Penyakit Jantung SianotikSianosis adalah . Sianosis akan tampak bila Hb tereduksi > 5 g/dL. Pada kasus anemia, Hb menurun dan

Hb tereduksi < 5 g/dL sehingga tidak akan tampak sianosis. Sianosis dapat disebabkan karena penyakit jantung atau karena syok, atau bronchopneumonia berat.

Sianosis dapat dibagi menjadi: Sianosis perifer

Merupakan sianosis yang terjadi karena perfusi yang buruk, seperti misalnya saat mandi pagi-pagi akan menyebabkan vasokonstriksi pada perifer dan terjadi sianosis perifer. Sianosis perifer dapat dilihat pada akral.

Sianosis sentralMerupakan sianosis yang terjadi walaupun perfusi masih baik. Sianosis sentral dapat dilihat pada mukosa mulut.

Sianosis diferensialMerupakan sianosis dimana terjadi perbedaan warna tangan dan kaki.

Penyakit jantung sianosis terdiri dari: Tetralogi Fallot Double Outlet Right Ventricle Transposisi arteri besar

Pada referat ini hanya akan dibahas tetralogi Fallot.Tetralogi Fallota. Definisi

Secara klasik, tetralogi Fallot terdiri dari: Ventricular Septal Defect (VSD) Pulmonal Stenosis Overriding aorta Hipertrofi ventrikel kanan

b. Patofisiologic. Manifestasi klinik

d. DiagnosisDari anamnesis didapatkan:

Sianosis Squatting pada anak besar

Dari pemeriksaan fisik didapatkan: Sianosis Bunyi Jantung 2 terdengar tunggal Bising Sistolik ejection murmur

Dari pemeriksaan roentgen thorax didapatkan: Tidak ada kardiomegali Penurunan corakan vaskuler paru Segmen pulmonal cekung Boot shaped

e. Terapif. Komplikasi Cerebrovascular accident, terjadi setelah serangan sianotik Abses otak Endokarditis enfektif Anemia relatif Trombosis paru

Perdarahang. Prognosis

Tetralogy of Fallot

Contents of this page: Illustrations Alternative names Definition Causes, incidence, and risk factors Symptoms

Signs and tests

Treatment Expectations (prognosis) Complications Calling your health care provider Prevention

References

Illustrations

Heart, section through the middle

Tetralogy of Fallot

Cyanotic 'Tet spell'

Alternative names    Return to top

TET; TOF

Definition    Return to top

Tetralogy of Fallot refers to four types of heart defects present at birth (congenital).

Causes, incidence, and risk factors    Return to top

Tetralogy of Fallot is classified as a cyanotic heart defect because the condition causes too little oxygen levels in the blood, which leads to cyanosis (a bluish-purple coloration to the skin).

The classic form of Tetralogy includes 4 defects within the heart structures:

Ventricular septal defect (hole between the right and left ventricles) Narrowing of the pulmonary outflow tract (tube that connects the heart with the lungs) An aorta (tube that carries oxygenated blood to the body) that grows from both ventricles, rather than exclusively

from the left ventricle A thickened muscular wall of the right ventricle (right ventricular hypertrophy)

At birth, infants may not show the signs of the cyanosis, but later may develop sudden frightening episodes (called "Tet spells") of bluish skin from crying or feeding.

Tetralogy of Fallot occurs in approximately 5 out of 10,000 infants.

The cause of most congenital heart defects is unknown. Multiple factors seem to be involved. Prenatal factors associated with higher than normal risk for this condition include maternal rubella or other viral illnesses during pregnancy, poor prenatal nutrition, maternal alcoholism, mother over 40 years old, and diabetes.

There is a high incidence of chromosomal disorders in children with tetralogy of Fallot, such as Down syndrome and Di George's syndrome (a partial gene deletion that results in heart defects, low calcium levels, and immune deficiency.)

Symptoms    Return to top

Difficult feeding (poor feeding habits) Failure to gain weight Poor development Cyanosis which becomes more pronounced during periods of agitation Passing out Sudden death Clubbing of fingers (skin or bone enlargement around the finger nails) Squatting during episodes of cyanosis

Signs and tests    Return to top

A physical examination with a stethoscope almost always reveals a heart murmur.

Tests may include:

EKG (electrocardiogram) may show the thickening of the right ventricle muscle CBC may show an increase in red blood cells Chest x-ray may show a "boot shaped" heart and dark lungs Cardiac catheterization helps show blood vessels in the lungs and heart Echocardiogram provides a definite diagnosis

Treatment    Return to top

Surgery to repair heart defects is always done when the infant is very young. Sometimes more than one surgery is needed. The first surgery may be done to help increase blood flow to the lungs, and a surgery to correct the problem is done at a later time. Corrective surgery is done to widen part of the narrowed pulmonary tract and close the ventricular septal defect.

Tips for parents of children with tetralogy of Fallot:

If a child does become blue, immediately place the child on his or her side and put the knees up to the chest. Calm the baby and seek medical attention

Feed the child slowly Give smaller, more frequent meals Decrease the child's anxiety by remaining calm Minimize crying by trying to anticipate the child's needs Recruit others to care for the child to prevent yourself from becoming exhausted

Expectations (prognosis)    Return to top

Most cases can be corrected with surgery. Babies that have surgery usually do well. Without surgery, death usually occurs when the person reaches age 20.

Patients who have continued, severe leakiness of the pulmonary valve may need the valve replaced.

Regular follow up with a cardiologist to monitor for life-threatening arrhythmias (irregular heart rhythms) is recommended.

Complications    Return to top

Delayed growth and development Seizures during periods of insufficient oxygen

Calling your health care provider    Return to top

Call your health care provider if new unexplained symptoms develop or if the patient is having an episode of cyanosis (blue skin).

Prevention    Return to top

There is no known prevention.

References    Return to top

Townsend CM, Beauchamp RD, Evers BM, Mattox KL. Sabiston Textbook of Surgery: The Biological Basis of Modern Surgical Practice. 17th ed. St. Louis, MO: WB Saunders; 2004:1823-1825.

Zipes DP, Libby P, Bonow RO, Braunwald E, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 7th ed. St. Louis, Mo; WB Saunders; 2005:1515.

Update Date: 6/27/2006 Updated by: Anne J. L. Chun, M.D., Assistant Professor of Pediatrics, Division of Pediatric Cardiology, New York University School of Medicine, New

York, NY. Review provided by VeriMed Healthcare Network.

http://www.nlm.nih.gov/medlineplus/ency/article/001567.htm

Cardiac catheterization

Contents of this page: Illustrations Alternative names Definition How the test is performed

How to prepare for the test

How the test will feel Why the test is performed What abnormal results mean What the risks are

Special considerations

Illustrations

Cardiac catheterization

Cardiac catheterization

Alternative names    Return to top

Catheterization - cardiac; Heart catheterization

Definition    Return to top

Cardiac catheterization involves passing a catheter (a thin flexible tube) into the right or left side of the heart. In general, this procedure is performed to obtain diagnostic information about the heart or its blood vessels or to provide treatment in certain types of heart conditions.

Cardiac catheterization can be used to determine pressure and blood flow in the heart's chambers, collect blood samples from the heart, and examine the arteries of the heart with an x-ray technique called fluoroscopy. Fluoroscopy provides immediate ("real-time") visualization of the x-ray images on a screen and provides a permanent record of the procedure.

How the test is performed    Return to top

You will be given a mild sedative prior to the test to help you relax. An intravenous (IV) line is inserted into one of the blood vessels in your arm, neck, or groin after the site has been cleansed and numbed with a local anesthetic.

A catheter is then inserted through the IV and into your blood vessel. The catheter is carefully threaded into the heart using an x-ray machine that produces real-time pictures (fluoroscopy). Once the catheter is in place, contrast material is injected and pictures are taken.

How to prepare for the test    Return to top

Food and fluid are restricted 6 to 8 hours before the test. The procedure takes place in the hospital and you will be asked to wear a hospital gown. Sometimes, admission the night before the test is required. Otherwise, you will be admitted as an outpatient or an inpatient the morning of the procedure.

Your health care provider should explain the procedure and its risks. A witnessed, signed consent for the procedure is required.

Tell your doctor if you are allergic to seafood, if you have had a bad reaction to contrast material in the past, if you are taking Viagra, or if you might be pregnant.

How the test will feel    Return to top

The study is carried out in a laboratory by a trained cardiologist or radiologist and technicians or nurses.

You will be awake and able to follow instructions during the catheterization. A mild sedative is usually given 30 minutes before the procedure to help you relax. The procedure may last from 1 to several hours.

You may feel some discomfort at the site where the IV is placed. Local anesthesia will be used to numb the site, so the only sensation should be one of pressure at the site. You may experience some discomfort from having to remain still for a long time.

After the test, the catheter is removed. You might feel a firm pressure at the insertion site, used to prevent bleeding. If the IV is placed in your groin, you will usually be asked to lie flat on your back for a few hours after the test to avoid bleeding. This may cause some mild back discomfort.

Why the test is performed    Return to top

Cardiac catheterization is usually performed to evaluate heart valves, heart function and blood supply, or heart abnormalities in newborns. It may also be used to determine the need for heart surgery.

Therapeutic catheterization may be used to repair certain types of heart defects, open a stenotic heart valve, and open blocked arteries or grafts in the heart.

What abnormal results mean    Return to top

The procedure can identify heart defects or disease, such as coronary artery disease, valve problems, ventricular aneurysms, or heart enlargement.

The procedure also may be performed for the following:

Primary pulmonary hypertension Pulmonary valve stenosis Pulmonary embolism Tetralogy of Fallot Transposition of the great vessels Tricuspid regurgitation Ventricular septal defect

What the risks are    Return to top

Cardiac catheterization carries a slightly increased risk when compared with other heart tests. However, the test is very safe when performed by an experienced team.

Generally, the risk of serious complications ranges from 1 in 1,000 to 1 in 500. The risks include the following:

Cardiac arrhythmias Cardiac tamponade Trauma to the artery caused by hematoma Low blood pressure Reaction to contrast medium Hemorrhage Stroke Heart attack

Considerations associated with any type of catheterization include the following:

In general, there is a risk of bleeding, infection, and pain at the IV site. There is always a very small risk that the soft plastic catheters could actually damage the blood vessels.

Blood clots could form on the catheters and later block blood vessels elsewhere in the body. The contrast material could damage the kidneys (particularly in patients with diabetes).

Special considerations    Return to top

Cardiac catheterization may include coronary angiography.

Update Date: 7/17/2006 Updated by: Glenn Gandelman, MD, MPH, Assistant Clinical Professor of Medicine, New York Medical College, Valhalla, NY. Review provided by

VeriMed Healthcare Network.

http://www.nlm.nih.gov/medlineplus/ency/article/003419.htm

Tetralogy of Fallot With Pulmonary AtresiaLast Updated: July 17, 2006

Rate this Article

Email to a Colleague

Get CME/CE for article

Synonyms and related keywords: tetralogy of Fallot, TOF, tetralogy of Fallot with pulmonary atresia, TOF-PA, pulmonary atresia with ventricular septal defect, VSD, end-stage tetralogy of Fallot, Fallot tetralogy, Fallot's tetralogy, Fallot tetrad, Fallot's tetrad

  AUTHOR INFORMATION Section 1 of 11   

Author Information Introduction Clinical Differentials Workup Treatment Medication Follow-up Miscellaneous Pictures Bibliography

Author: Michael Pettersen, MD, Director of Echocardiography, Assistant Professor, Department of Pediatrics, Children's Hospital of Michigan, Wayne State University School of Medicine

Coauthor(s): Aparna Kulkarni, MD, Fellow, Department of Cardiology, Children's Hospital of Michigan Michael Pettersen, MD, is a member of the following medical societies: American Academy of Pediatrics, American Heart Association, and American Society of Echocardiography Editor(s): Ira H Gessner, MD, Professor, Department of Pediatrics, University of Florida College of Medicine; Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine.com, Inc; Ameeta Martin, MD, Associate Professor, Department of Pediatrics, Section of Pediatric Cardiology, University of Nebraska College of Medicine; Gilbert Herzberg, MD, Assistant Professor, Department of Pediatrics, Section of Pediatric Cardiology, New York Medical College; and Stuart Berger, MD, Professor of Pediatrics, Division of Cardiology, Medical College of Wisconsin; Chief of Pediatric Cardiology, Medical Director of Pediatric Heart Transplant Program, Medical Director of The Heart Center, Children's Hospital of Wisconsin

Disclosure

  INTRODUCTION Section 2 of 11   

Author Information Introduction Clinical Differentials Workup Treatment Medication Follow-up Miscellaneous Pictures Bibliography

Background: Tetralogy of Fallot (TOF) is comprised of a malaligned ventricular septal defect (VSD), anterior shift of the aorta over the VSD (overriding aorta), obstruction of the right ventricular outflow tract, and right ventricular hypertrophy. Pulmonary atresia (PA) with VSD is considered the extreme end of the anatomic spectrum of TOF. TOF-PA is worthy of separate consideration. Because of the wide variability of pulmonary blood supply, diagnosis and surgical management of TOF-PA is more difficult than that of classic TOF.

Embryology

The lungs develop from the foregut and carry their nutrient supply from the paired dorsal aortae. The paired sixth aortic arches also give rise to branches that form an anastomosis with the pulmonary

vascular tree on day 27 of gestation. Over time, the branches from the descending thoracic arch become smaller, and the sixth aortic arch becomes larger.

The aorta and pulmonary arteries form from the distal bulbus cordis and the truncus arteriosus, which are positioned above the right ventricle. The bulbotruncal ridges separate the great arteries, and the aortic component rotates posteriorly. However, faulty rotation of the bulbus-truncus in TOF results in incomplete transfer of the aorta above the left ventricle. Malalignment of the infundibular septum to the trabecular septum is present, resulting in a malalignment VSD. Anterior displacement of the bulbotruncal region has been postulated to cause the infundibular stenosis. Another theory that has been suggested to cause TOF is underdevelopment of the subpulmonic infundibulum that results in maldevelopment of the conal septum. Little or no evidence exists to support this hypothesis, however.

Anatomy

Anatomy of the pulmonary arteries and the source of pulmonary artery blood supply may be highly variable in TOF-PA. Persistence of descending thoracic branches accounts for the abnormal pulmonary arterial supply in this condition. Major aortopulmonary collateral arteries may anastomose at any site in the pulmonary vascular tree. Most frequently, the right and left pulmonary arteries are patent and maintain free communication with each other; they are termed confluent pulmonary arteries. The pulmonary arteries may also be hypoplastic and nonconfluent. No antegrade blood flow is present from the right ventricle to the pulmonary arteries. The ductus arteriosus (DA) often is an important source of blood supply, although occasionally it is absent.

Classification of PA-VSD depends on the predominant source of blood supply to the bronchopulmonary segments. These range from the native confluent pulmonary arteries supplied solely by the DA to nonconfluent pulmonary arteries with multiple major aortopulmonary collaterals supplying pulmonary blood flow[took out for consistency]. Rare sources of pulmonary blood flow include an aortopulmonary window, a persistent fifth aortic arch, and coronary–to–pulmonary artery fistulae. Identification of the pulmonary arterial supply is essential in planning the type of surgical repair.

Pathophysiology: Clinical presentation in TOF-PA depends on the source and volume of pulmonary blood flow. This usually occurs via the DA and/or aortopulmonary collaterals. The newborn infant, in whom the DA is the sole source of pulmonary blood flow, becomes increasingly cyanotic as the DA closes. Early recognition of the diagnosis along with prompt institution of prostaglandin E1 (PGE1) infusion is life saving in this instance. Conversely, when the aortopulmonary collaterals constitute the source of pulmonary blood flow, the clinical presentation may vary from cyanosis with inadequate pulmonary blood flow to no cyanosis with increased pulmonary blood flow. Uncommonly, pulmonary blood flow is increased sufficiently to cause symptoms due to pulmonary overcirculation. Older infants and children commonly present with cyanosis. Hypoxia usually progresses further as the child outgrows the source of pulmonary blood flow. Early surgical intervention has improved survival in these patients.

Frequency:

In the US: The Baltimore Washington Infant study reported an incidence of 0.07 per 1000 live births for TOF-PA. This condition accounts for 1.5% of all forms of congenital heart disease and 20% of all forms of TOF.

Mortality/Morbidity: Survival before the advent of modern surgical techniques occurred rarely, with less than 5% of patients reaching age 25 years. In patients with operable pulmonary arteries, survival rates with satisfactory quality of life now reach 90%.

Patients with inadequate pulmonary blood flow and marked cyanosis develop complications affecting multiple organ systems, including hematologic, skeletal, renal, and neurologic, causing significant morbidity and mortality.

In patients with large aortopulmonary collaterals and excessive pulmonary blood flow, CHF may result in failure to thrive.

Patients with TOF-PA and nonconfluent PAs are subject to increased morbidity and mortality related to the frequent need for multiple cardiac surgeries. The risks of cardiopulmonary bypass and anesthesia are present at each stage of the repair.

Race: No known race predilection exists.

Sex: No specific male or female preponderance of TOF-PA has been noted.

Age: TOF-PA becomes symptomatic at birth in most cases. Diagnosis usually occurs at this time.

  CLINICAL Section 3 of 11   

Author Information Introduction Clinical Differentials Workup Treatment Medication Follow-up Miscellaneous Pictures Bibliography

History: Clinical presentation is variable and largely dependent on the source and volume of pulmonary blood flow.

An infant with tetralogy of Fallot with pulmonary atresia (TOF-PA) is often symptomatic within the first hours to days of life.

o Severe cyanosis becomes apparent immediately after birth as the DA begins to close. In the presence of significant aortopulmonary collaterals, cyanosis may be mild to moderate. If adequate collaterals or additional sources of pulmonary blood flow are lacking, closure of the DA may produce hypoxemia too severe for survival.

o On rare occasions, patients with well-developed aortopulmonary collaterals or persistent patency of the DA may present with heart failure. Symptoms develop several weeks after birth as pulmonary vascular resistance decreases and pulmonary blood flow increases.

o The older infant and child with adequate pulmonary blood flow supplied by aortopulmonary collaterals presents with a history of cyanosis. Impaired exercise tolerance and growth failure may occur.

Patients who have undergone palliative surgical procedures may present with variable symptomatology.

o Most palliative procedures are intended to augment pulmonary blood flow by placement of systemic-to-pulmonary artery shunts. These shunts may distort the pulmonary vasculature or may cause stenosis and result in hypoxia.

o Elevated pulmonary vascular resistance has been noted in the presence of large systemic-to-pulmonary connections. This problem was prevalent with the Waterston (direct anastomosis of the ascending aorta to the pulmonary artery) and the Potts (direct anastomosis of the descending aorta to the pulmonary artery) shunts, both of which have been largely abandoned.

Physical:

Physical findings vary according to the source and volume of pulmonary blood flow.

o Obvious profound cyanosis may be noted in the neonatal period. This becomes severe as the ductus narrows. Patients with significant aortopulmonary collaterals may be mildly cyanotic initially but become increasingly cyanotic if they outgrow their source of pulmonary blood flow.

o Peripheral pulses and blood pressures are usually normal during the first few days of life. Patients with increased pulmonary blood flow may be noted to have bounding pulses.

o Auscultation reveals a normal first heart sound with a single second heart sound. A systolic murmur may be present at the left lower sternal border. The typical right ventricular outflow tract murmur of classic TOF is not heard. A soft continuous murmur from the DA may occur at the left base. A continuous murmur from the aortopulmonary collaterals may be heard in the back.

o Growth and development often are delayed.

Causes:

Many patients with TOF-PA have associated syndromes and extracardiac malformations.

o Conotruncal cardiac malformations associated with a chromosome arm 22q11 deletion have been incorporated under an acronym of CATCH22 (cardiac defect, abnormal face, thymic hypoplasia, cleft palate, hypocalcemia, microdeletion of band 22q11). Patients with TOF-PA have a higher incidence of this syndrome than patients with classic TOF. The prevalence of deletion 22q11 is 16% in TOF-PA with confluent pulmonary arteries and 41% in patients with TOF-PA and multiple aortopulmonary collateral arteries.

o Other syndromic associations include VATER syndrome (vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, and renal and radial anomalies), CHARGE syndrome (coloboma, heart disease, atresia choanae, retarded growth and retarded development and/or CNS anomalies, genital hypoplasia, and ear anomalies and/or deafness), Alagille syndrome, cat's-eye syndrome, de Lange syndrome, Klippel-Feil syndromes, and trisomy 21.

o Maternal diabetes mellitus; maternal phenylketonuria; and maternal ingestion of retinoic acid, trimethadione, or sex hormones increase the risk of conotruncal abnormalities. Infants of mothers with diabetes mellitus have a 20-fold higher risk than infants of mothers without diabetes mellitus.

The recurrence risk of siblings with TOF is 3-4%. The recurrence risk increases further if syndromic variants are present.

Variable patterns of inheritance may be observed.

  DIFFERENTIALS Section 4 of 11   

Author Information Introduction Clinical Differentials Workup Treatment Medication Follow-up Miscellaneous Pictures Bibliography

Heterotaxy, Asplenia Heterotaxy, Polysplenia Pulmonary Atresia With Intact Ventricular Septum Pulmonary Stenosis, Valvar Total Anomalous Pulmonary Venous Connection Transposition of the Great Arteries Tricuspid Atresia

Other Problems to be Considered:

Double outlet right ventricle with severe pulmonary stenosis or atresiaSingle ventricle with severe pulmonary stenosis or atresia

Lab Studies:

Obtain a complete blood cell count to determine hemoglobin and hematocrit.

In infants who are sick, an arterial blood gas can assess pO2, acid-base status.

Imaging Studies:

The chest radiograph depicts a normal-sized boot-shaped heart with decreased pulmonary vascular markings. A concavity in the region of the main pulmonary artery is observed. Approximately 26-50% of these patients have a right-sided aortic arch. Increased pulmonary vascularity may be observed in the presence of large aortopulmonary collaterals.

Two-dimensional echocardiography with color flow and 2-dimensional Doppler is the most important tool in the diagnosis.

o The parasternal long axis view reveals a large aortic valve that overrides a large malalignment VSD. Two-dimensional and color flow imaging demonstrates lack of patency of the right ventricular outflow tract.

o The suprasternal and high parasternal views provide information regarding the pulmonary trunk, right and left pulmonary artery size, and their confluence. The pulmonary arteries usually appear hypoplastic and may not be visualized at all.

o Color-flow imaging identifies sources of pulmonary artery blood flow including the DA and aortopulmonary collaterals. Significant hypoplasia of the central pulmonary arteries or presence of a small patent ductus arteriosus (PDA) is highly predictive of the presence of aortopulmonary collaterals. If collaterals are suspected, echocardiography

alone is inadequate for complete delineation of pulmonary blood flow, and further imaging by MRI or angiography is recommended.

o Determination of the side of the aortic arch is important, particularly if an initial aorta-pulmonary artery shunt is planned.

In centers with expertise, MRI may be used as a noninvasive method of visualizing the pulmonary arteries and their collateral supply.

Other Tests:

ECG findings are similar to those of other patients with tetralogy of Fallot (TOF). Right ventricular hypertrophy with right axis deviation is usually present. Biventricular hypertrophy may occur in infants with cardiac failure from excessive pulmonary blood flow. TOF-PA can be differentiated from PA with an intact septum because patients with the latter diagnosis have diminutive anterior QRS forces and left ventricular hypertrophy.

Fluorescent in situ hybridization (FISH) analysis may be performed to detect a chromosome arm 22q deletion.

Procedures:

Indications: Cardiac catheterization with angiography is recommended in most patients before surgical repair. Careful delineation of all sources of pulmonary blood supply is necessary to facilitate surgical planning. This includes determination of the presence, size, and confluence of the native pulmonary arteries and the presence of major aortopulmonary collaterals that may need to be incorporated into the repair.

Technique: A femoral venous approach may be used to perform the right heart catheterization. The catheter does not pass across the pulmonary valve but can easily pass across the VSD into the left ventricle and aorta.

o To visualize the VSD, a ventriculogram should be obtained with injection in the left ventricle. Coronary artery anatomy is delineated by an aortic root injection.

o Angiographic depiction of the pulmonary arteries may necessitate a retrograde arterial approach. This also allows easier access to imaging of both surgical shunts and aortopulmonary collaterals. Biplane angiography that includes both lung fields is important in defining the complete anatomy of both pulmonary arteries. Determining the confluence and patency of pulmonary arteries is of utmost importance. Further selective angiograms may be obtained to delineate the systemic-to-pulmonary collateral flow and anatomy.

o In some patients, ventriculography and aortography do not demonstrate central true pulmonary arteries. In these patients, pulmonary vein wedge angiography may provide this information. An end-hole catheter is passed across the atrial septum and wedged into a pulmonary vein. (Bilateral injections may be necessary.) A forceful injection of contrast by hand causes contrast to flow retrograde through the pulmonary veins reaching the central pulmonary arteries.

Results: Venous catheterization usually reveals normal right atrial pressures. Right and left ventricular pressures are equal because of the presence of a large VSD. Aortic pressure is

normal if pulmonary blood flow is normal or decreased. A wide pulse pressure may be observed in the presence of a large DA. Pulmonary pressures are low with normal pulmonary vascular resistance but may be elevated in the presence of a large systemic-to-pulmonary shunt.

o Unless an atrial septal defect is present, oxygen saturation in the right atrium is low. Systemic arterial saturation depends on the amount of pulmonary blood flow.

o Ventriculography reveals the position of the VSD. The pulmonary arteries may be depicted as confluent or nonconfluent. Areas of stenoses or hypoplasia in the pulmonary arteries may be observed. Details of the systemic to pulmonary collateral supply are delineated, and special attention may be brought to dual supply of a lung segment. Intercommunications between the different collateral vessels and the peripheral pulmonary artery segments may be observed.

Postcatheterization precautions: General postcatheterization precautions include hemorrhage, pain, nausea and vomiting, and arterial or venous obstruction from thrombosis or spasm. Give special attention to the hydration status of infants who require multiple angiograms to outline their pulmonary arterial anatomy. Attempt to limit the amount of contrast to 5-6 mL/kg.

o These patients are hypoxemic and may require oxygen during and after the procedure.

o Give special attention to obtaining hemostasis and applying a pressure dressing at the access sites postcatheterization.

Complications: Taking appropriate precautions often avoids the potential complications of cardiac catheterization, including blood vessel injury, perforation, tachyarrhythmias, bradyarrhythmias, and vascular occlusion.

  TREATMENT Section 6 of 11   

Author Information Introduction Clinical Differentials Workup Treatment Medication Follow-up Miscellaneous Pictures Bibliography

Medical Care:

Newborn infants with cyanosis due to congenital heart disease almost always benefit from administration of PGE1 to maintain ductal patency while a definitive diagnosis is made. Once the diagnosis of tetralogy of Fallot with pulmonary atresia (TOF-PA) is made, maintain PGE1 infusion through initial surgery.

Older infants with increased pulmonary blood flow may require treatment for heart failure.

Surgical Care: Neonates with adequate-sized confluent pulmonary arteries may be amenable to primary definitive surgical repair. A palliative procedure with a systemic–to–pulmonary artery shunt may be performed while awaiting complete repair at a later date. The ultimate surgical goals are to incorporate as many pulmonary artery segments as possible into a pulmonary artery confluence, to place a conduit from the right ventricle to the pulmonary artery confluence, and to close the VSD.

When the pulmonary arteries are hypoplastic, nonconfluent, and supplied by aortopulmonary collaterals, a multistaged repair is often required. Hypoplastic pulmonary arteries generally require palliative shunting to induce enlargement and growth of these vessels so they can be successfully incorporated into the complete repair. The shunts used may be modified Blalock-

Taussig or central shunts, and they may be unilateral or bilateral. If the pulmonary arteries have grown after placement of the palliative shunts, unifocalization of the pulmonary arteries can be performed; this is done by incorporating the aortopulmonary collaterals and connecting them to the conduit from the right ventricle.

For complete repair to be performed in a child who has undergone palliation, the central pulmonary arterial area must be greater than 50% of normal; predominantly left-to-right intracardiac shunting must be present; the equivalent of an entire lung must be supplied by the central pulmonary artery confluence; and stenotic lesions in the pulmonary artery outflow must be addressed.

Some centers have shifted toward performing a single-stage repair, wherein all the multiple aortopulmonary collaterals (MAPCAs) are ligated at the aorta. These MAPCAs are then mobilized toward the posterior mediastinum to construct a pulmonary artery confluence, followed by insertion of a pulmonary allograft to establish continuity between these neopulmonary arteries and the right ventricle. The VSD is closed. These centers have reported good results. Infants with postunifocalization pulmonary arteries that, combined, are only mildly hypoplastic (>200 mm2/m2) have a lower mortality rate and acceptable right ventricular pressures. Most patients, however, require repeat catheterizations for balloon dilation or stent placements in stenotic pulmonary artery segments to alleviate elevated right ventricular pressures.

Consultations:

Pediatric cardiology consultation is advised.

Consult a geneticist to evaluate the presence of syndromic associations and gene deletions, especially in the presence of associated anomalies or dysmorphic features.

Once the anatomy of a child with TOF-PA is determined by echocardiography and angiography findings, consultation with a cardiovascular surgeon is required. The caregivers need to be aware of the possibility of a multistage repair and repeated surgeries and catheterizations.

If anomalies involving other systems are present, consultations and follow-up with the appropriate specialists are required.

Diet:

Infants who are born with multiple systemic-to-pulmonary collaterals and are in cardiac failure because of pulmonary overcirculation require caloric supplementation to establish a normal growth pattern. Caloric intake as high as 130-150 kcal/kg/d may be required.

Children that undergo palliative procedures also require optimization of their caloric intake. Adequate nutritional supplementation in the form of total parental nutrition must also be ascertained in the perioperative period. These patients often have a prolonged postoperative recovery course.

Activity: Exercise tolerance and need for restrictions on physical activity depend on the type of repair and hemodynamic state of the patient.

Patients with cyanosis will have significantly limited exercise capacity.

Children and adults who have had complete repair of TOF-PA may have limited exercise tolerance due to ventricular dysfunction, chronotropic impairment, right ventricular outflow tract obstruction/conduit stenosis, or distal pulmonary artery stenoses.

  MEDICATION Section 7 of 11   

Author Information Introduction Clinical Differentials Workup Treatment Medication Follow-up Miscellaneous Pictures Bibliography

Newborns with tetralogy of Fallot with pulmonary atresia may require the DA as the source of pulmonary blood flow. A PGE1 (Alprostadil) infusion maintains patency of the ductus.

Infants with multiple systemic pulmonary collaterals may develop symptomatic heart failure requiring medical therapy.

Drug Category: Prostaglandins -- PGE1 (Alprostadil) promotes dilatation of the DA in infants with ductal-dependent cardiac abnormalities. It is also a vasodilator.

Drug Name

Alprostadil (Prostin VR Pediatric Injection) -- First-line palliative therapy to temporarily maintain patency of DA before surgery. Beneficial in infants who have congenital defects that restrict pulmonary or systemic blood flow and who depend on a patent DA for adequate oxygenation and lower body perfusion. Produces vasodilation and increases cardiac output. Each 1-mL ampule contains 500 mcg/mL.

Adult Dose Not indicated

Pediatric DoseInitial dose: 0.05-0.1 mcg/kg/min IVMaintenance dose: 0.01-0.4 mcg/kg/min IVInfuse IV into large vein or umbilical cord

ContraindicationsDocumented hypersensitivity; hyaline membrane disease; respiratory distress syndrome

InteractionsLimited data exist; use caution with concurrent use of antiplatelet drugs or anticoagulants

Pregnancy X - Contraindicated in pregnancy

Precautions

Adverse effects and toxicity include apnea, seizures, fever, hypotension, leukocytosis, fever, and pulmonary overcirculation; neonates are usually intubated prophylactically because of potential risk of apnea (10-12%); prolonged use is occasionally necessary (in hypoplastic left heart syndrome transplant candidates) and may be associated with third spacing of fluid; monitor blood oxygenation and arterial pressure

Drug Category: Diuretic agents -- These agents promote excretion of water and electrolytes by the kidneys. They are used to treat heart failure or hepatic, renal, or pulmonary disease when sodium and water retention results in edema or ascites. Children who have CHF symptoms often require multiple diuretics for effective control.

Drug Name

Furosemide (Lasix) -- Increases excretion of water by interfering with chloride-binding cotransport system, which in turn inhibits sodium and chloride reabsorption in ascending loop of Henle and distal renal tubule. Individualize dose to patient. Depending on response, administer adult doses at increments of 20-40 mg, no sooner than 6-8 h after previous dose, until desired diuresis occurs. When treating infants, titrate with 1-mg/kg/dose increments until satisfactory effect achieved.

Adult Dose20-80 mg/d PO/IV/IM; titrate up to 600 mg/d for severe edematous states

Pediatric Dose

1-2 mg/kg/dose PO; not to exceed 6 mg/kg/dose; do not administer more frequently than q6h1 mg/kg/dose IV/IM slowly under close supervision; not to exceed 6 mg/kg/d

ContraindicationsDocumented hypersensitivity; hepatic coma; anuria; severe electrolyte depletion

Interactions Metformin decreases concentrations; interferes with hypoglycemic effect of antidiabetic agents and antagonizes muscle-relaxing effect of tubocurarine; auditory toxicity appears to be increased with coadministration with aminoglycosides; hearing loss

of varying degrees may occur; anticoagulant activity of warfarin may be enhanced when taken concurrently with this medication; increased plasma lithium levels and toxicity are possible when taken concurrently with this medication

PregnancyC - Safety for use during pregnancy has not been established.

Precautions

Perform frequent serum electrolyte, CO2, glucose, creatinine, uric acid, calcium, and BUN determinations during first few months of therapy and periodically thereafter

Drug Name

Spironolactone (Aldactone) -- For management of edema resulting from excessive aldosterone excretion. Competes with aldosterone for receptor sites in distal renal tubules, increasing water excretion while retaining potassium and hydrogen ions.

Adult Dose 25-200 mg/d PO qd or divided bid

Pediatric Dose 1.5-3.5 mg/kg/d PO qd or divided q6-12h

ContraindicationsDocumented hypersensitivity; anuria; renal failure; hyperkalemia

InteractionsMay decrease effect of anticoagulants; potassium and potassium-sparing diuretics may increase toxicity of spironolactone

Pregnancy D - Unsafe in pregnancy

Precautions Caution in renal and hepatic impairment

Drug Name

Hydrochlorothiazide (HydroDIURIL, Esidrix, Microzide) -- Inhibits reabsorption of sodium in distal tubules, causing increased excretion of sodium and water as well as potassium and hydrogen ions.

Adult Dose 25-100 mg PO qd; not to exceed 200 mg/d

Pediatric Dose<6 months: 2-3 mg/kg/d PO divided bid>6 months: 2 mg/kg/d PO divided bid

ContraindicationsDocumented hypersensitivity; anuria; renal decompensation

Interactions

May decrease effects of anticoagulants, antigout agents, and sulfonylureas; thiazides may increase toxicity of allopurinol, anesthetics, antineoplastics, calcium salts, loop diuretics, lithium, diazoxide, digitalis, amphotericin B, and nondepolarizing muscle relaxants

PregnancyC - Safety for use during pregnancy has not been established.

PrecautionsCaution in renal disease, hepatic disease, gout, diabetes mellitus, and erythematosus

Drug Category: Inotropic agents -- Positive inotropic agents increase the force of contraction of the myocardium and are used to treat acute and chronic CHF. Poor ventricular function may necessitate the use of inotropic medications.

Drug Name

Digoxin (Lanoxin) -- Cardiac glycoside with direct inotropic effects and indirect effects on the cardiovascular system. Acts directly on cardiac muscle, increasing myocardial systolic contractions. Indirect actions result in increased carotid sinus nerve activity and enhanced sympathetic withdrawal for any given increase in mean arterial pressure.

Adult Dose 0.125-0.375 mg PO qd

Pediatric Dose5-10 years: 20-35 mcg/kg PO>10 years: 10-15 mcg/kg POMaintenance dose: Use 25-35% of PO loading dose

ContraindicationsDocumented hypersensitivity; beriberi heart disease; idiopathic hypertrophic subaortic stenosis; constrictive pericarditis; carotid sinus syndrome

Interactions

IV calcium may produce arrhythmias in digitalized patientsMedications that may increase levels include alprazolam, benzodiazepines, bepridil, captopril, cyclosporine, propafenone, propantheline, quinidine, diltiazem, aminoglycosides, PO amiodarone, anticholinergics, diphenoxylate, erythromycin, felodipine, flecainide, hydroxychloroquine, itraconazole, nifedipine, omeprazole, quinine, ibuprofen, indomethacin, esmolol, tetracycline, tolbutamide, and verapamilMedications that may decrease levels include aminoglutethimide, antihistamines, cholestyramine, neomycin, penicillamine, aminoglycosides, PO colestipol, hydantoins, hypoglycemic agents, antineoplastic treatment combinations (eg, carmustine, bleomycin, methotrexate, cytarabine, doxorubicin, cyclophosphamide, vincristine, procarbazine), aluminum or magnesium antacids, rifampin, sucralfate, sulfasalazine, barbiturates, kaolin/pectin, and aminosalicylic acid

PregnancyC - Safety for use during pregnancy has not been established.

Precautions Hypokalemia may reduce positive inotropic effect of digitalis; hypercalcemia predisposes patient to digitalis toxicity, and hypocalcemia can make digoxin ineffective until serum calcium levels are within the reference range; magnesium replacement therapy must be instituted in patients with hypomagnesemia to prevent digitalis toxicity; incomplete AV block may progress to complete block when treated with

digoxin; exercise caution in hypothyroidism, hypoxia, and acute myocarditis; adjust dose in renal impairment; highly toxic (overdoses can be fatal)

  FOLLOW-UP Section 8 of 11   

Author Information Introduction Clinical Differentials Workup Treatment Medication Follow-up Miscellaneous Pictures Bibliography

Further Inpatient Care:

Admit for testing and surgical intervention.

Significant pulmonic valve regurgitation often occurs regardless of the type of conduit placed between the right ventricle and the pulmonary arteries. Some patients develop substantial right ventricular dilation and right ventricular dysfunction. Surgical placement of a pulmonic valve may significantly benefit these patients. Transcatheter placement of a pulmonic valve currently is under development.

Further Outpatient Care:

Infants with multiple aortopulmonary collaterals may require outpatient medical management of heart failure.

Residual right ventricular hypertension with right ventricular dysfunction from hypoplastic pulmonary arteries may be present.

After each stage of surgical reconstruction, echocardiographic and Doppler evaluation of hemodynamic adequacy should be performed. After complete repair, the patient needs to be evaluated for the development of right ventricle–to–pulmonary artery conduit stenosis as well as pulmonic regurgitation.

A few patients may never reach the stage of complete repair because of very hypoplastic pulmonary arteries. These patients often are hypoxemic and polycythemic and may require oxygen supplementation.

Transfer:

Transfer to a tertiary care center is indicated for complete diagnostic evaluation and surgical intervention.

Complications:

Residual right ventricular dysfunction from hypoplastic pulmonary arteries or conduit stenosis

Cyanosis, hypoxemia, and polycythemia

Atrioventricular conduction abnormalities, right bundle branch block, ventricular arrhythmias in the postoperative patients

Significant pulmonic valve regurgitation

Prognosis:

The prognosis depends on the specific anatomy and type of intervention.

Long-term follow up data are not widely available; however, recent outcome does seem to be more favorable. Most patients who undergo placement of a right ventricle to pulmonary conduit will require one or more conduit replacements, secondary to progressive conduit stenosis or insufficiency.

Patient Education:

Educate patients and their families about anatomic details and long-term prognosis, the potential need for multiple surgeries and catheterizations, and postoperative complications.

At all patient care visits, emphasize the need for bacterial endocarditis prophylaxis.

For excellent patient education resources, visit eMedicine's Heart Center. Also, see eMedicine's patient education article Tetralogy of Fallot.

  MISCELLANEOUS Section 9 of 11   

Author Information Introduction Clinical Differentials Workup Treatment Medication Follow-up Miscellaneous Pictures Bibliography

Medical/Legal Pitfalls:

Failure to consider the diagnosis, especially in a newborn with cyanosis

Special Concerns:

Genetic counseling is strongly recommended in patients of childbearing age; the chance that patients with tetralogy of Fallot (TOF) could have an offspring with CHD is as high as 15%.

Patients with residual right ventricular dysfunction or pulmonary hypertension are advised to avoid pregnancy because it carries significant mortality risk.

All patients with TOF-PA are required to take appropriate antibiotic bacterial endocarditis prophylaxis.

Exercise recommendations must be tailored to individual patients by considering the presence of cyanosis, right ventricle hypertension, right ventricle dysfunction, or dysrhythmias.

  PICTURES Section 10 of 11   

Author Information Introduction Clinical Differentials Workup Treatment Medication Follow-up Miscellaneous Pictures Bibliography

Caption: Picture 1. Parasternal long axis two-dimensional echocardiographic image demonstrating a large malalignment ventricular septal defect with overriding of the aorta over the ventricular septum.

 Picture Type: MovieCaption: Picture 2. Subcostal sagittal plane two-dimensional echocardiographic image showing pulmonary valve atresia, with confluent and well-developed pulmonary artery branches.

 

Picture Type: MovieCaption: Picture 3. Suprasternal long axis color flow echocardiographic image showing a large patent ductus arteriosus supply confluent pulmonary arteries.

 Picture Type: MovieCaption: Picture 4. Aortopulmonary view angiogram, with injection in the descending thoracic aorta demonstrating multiple aortopulmonary collaterals supplying pulmonary blood flow.

 Picture Type: MovieCaption: Picture 5. Parasternal long axis two-dimensional echocardiographic image in a patient status post complete repair of tetralogy of Fallot with pulmonary atresia. A patch is visualized closing the ventricular septal defect.

 Picture Type: MovieCaption: Picture 6. Parasternal long axis color compare echocardiographic image showing the pulmonary artery conduit arising from the right ventricle.

 Picture Type: Moviehttp://www.emedicine.com/ped/topic2539.htm

Tetralogy of FallotLast Updated: March 22, 2006

Rate this Article

Email to a Colleague

Get CME/CE for article

Synonyms and related keywords: TOF, Fallot tetrad, Fallot's tetrad, congenital heart disease, tetralogy of Fallot, maldevelopment of right ventricular infundibulum, subaortic ventricular septal defect, right ventricular infundibular stenosis, aortic valve positioned to override the right ventricle, right ventricular hypertrophy, right-to-left shunting, right ventricular outflow tract obstruction, cyanosis, hypertrophy of the infundibular septum, dyspnea, retarded growth, aortic ejection click, systolic thrill, systolic ejection murmur, clubbing, scoliosis, squatting position, retinal engorgement, hemoptysis, conotruncal abnormalities, DiGeorge syndrome, branchial arch abnormalities, fetal hydantoin syndrome, fetal carbamazepine syndrome, fetal alcohol syndrome, maternal phenylketonuria birth defects

  AUTHOR INFORMATION Section 1 of 11   

Author Information Introduction Clinical Differentials Workup Treatment Medication Follow-up Miscellaneous Pictures Bibliography

Author: Mark Spektor, DO, Assistant Professor, Consulting Staff, Department of Emergency Medicine, SUNY - Downstate, Kings County Hospital Center; Consulting Staff, Department of Emergency Medicine, University Hospital in Brooklyn, Director of Emergency Medicine, NYHHS - VA Medical Center

Coauthor(s): Kurt Pflieger, MD, Active Staff, Department of Pediatrics, Lake Pointe Medical Center Mark Spektor, DO, is a member of the following medical societies: American College of Emergency Physicians, American College of Physician Executives, and Society for Academic Emergency Medicine Editor(s): Theodore Gaeta, DO, MPH, Residency Director, Clinical Associate Professor of Emergency Medicine in Medicine, Department of Emergency Medicine, New York Methodist Hospital; Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine; Gary Setnik, MD, Chair, Department of Emergency Medicine, Mount Auburn Hospital; Assistant Professor, Division of Emergency Medicine, Harvard Medical School; John Halamka, MD, Chief Information Officer, CareGroup Healthcare System, Assistant Professor of Medicine, Department of Emergency Medicine, Beth Israel Deaconess Medical Center; Assistant Professor of Medicine, Harvard Medical School; and Charles V Pollack, Jr, MD, MA, FACEP, Associate Professor of Emergency Medicine, University of Pennsylvania School of Medicine; Chairman, Department of Emergency Medicine, Pennsylvania Hospital

Disclosure

  INTRODUCTION Section 2 of 11   

Author Information Introduction Clinical Differentials Workup Treatment Medication Follow-up Miscellaneous Pictures Bibliography

Background: Tetralogy of Fallot (TOF) is a complex of anatomic abnormalities arising from the maldevelopment of the right ventricular infundibulum.

In 1888, Fallot described the anatomy as consisting of a subaortic ventricular septal defect (VSD), right ventricular infundibular stenosis, aortic valve positioned to override the right ventricle, and right ventricular hypertrophy (RVH). See Image 1 for a schematic illustration of these abnormalities.

Pathophysiology: Wide variation exists in the basic anatomic morphology, pathophysiology, clinical signs and symptoms, and surgical methods of therapy. Pathophysiology is dependent primarily upon severity of the right ventricular outflow tract (RVOT) obstruction. Right-to-left shunting is typical.

Frequency:

In the US: TOF represents approximately 10% of cases of congenital heart disease.

Mortality/Morbidity: Natural history is variable.

Natural history is determined mainly by the degree of RVOT obstruction.

Approximately 25% of untreated patients with TOF and RVOT obstruction die within the first year of life, 40% by 4 years, 70% by 10 years, and 95% by 40 years.

Sex: Incidence is slightly higher in males than females.

Age: Newborns

  CLINICAL Section 3 of 11   

Author Information Introduction Clinical Differentials Workup Treatment Medication Follow-up Miscellaneous Pictures Bibliography

History:

Cyanosis develops within the first few years of life. First presentation may include poor feeding, fussiness, tachypnea, and agitation.

Symptoms generally progress secondary to hypertrophy of the infundibular septum.

Cyanosis occurs and demands surgical repair.

Dyspnea on exertion is common.

Squatting is uniquely characteristic of a right-to-left shunt that presents in the exercising child.

Hypoxic "tet" spells are potentially lethal, unpredictable episodes that occur even in noncyanotic patients with TOF. These spells can be aborted with relatively simple procedures.

The rare patient may remain marginally and imperceptibly cyanotic, or acyanotic and asymptomatic, into adult life.

Severe cyanosis may present at birth in a patient with TOF and associated pulmonary atresia.

Birth weight is low.

Growth is retarded.

Development and puberty may be delayed.

Physical:

Right ventricular predominance on palpation May have a bulging left hemithorax

Systolic thrill at the lower left sternal border

Aortic ejection click

Single S2 - Pulmonic valve closure not heard

Systolic ejection murmur - Varies in intensity inversely with the degree of RVOT obstruction

o More cyanotic patients have greater obstruction and a softer murmur. o An acyanotic patient with TOF (pink tet) has a long, loud, systolic murmur with a thrill

along the RVOT.

Cyanosis and clubbing - Variable

Squatting position

Scoliosis - Common

Retinal engorgement

Hemoptysis

Causes:

As one of the conotruncal malformations, TOF can be associated with a spectrum of lesions known as CATCH 22 (cardiac defects, abnormal facies, thymic hypoplasia, cleft palate, hypocalcemia). Cytogenetic analysis may demonstrate deletions of a segment of chromosome band 22q11 (DiGeorge critical region).

Ablation of cells of the neural crest has been shown to reproduce conotruncal malformations.

These abnormalities are associated with the DiGeorge syndrome and branchial arch abnormalities.

TOF frequently is associated with the following:

o Fetal hydantoin syndrome

o Fetal carbamazepine syndrome

o Fetal alcohol syndrome

o Maternal phenylketonuria (PKU) birth defects

  DIFFERENTIALS Section 4 of 11   

Author Information Introduction Clinical Differentials Workup Treatment Medication Follow-up Miscellaneous Pictures Bibliography

Acute Respiratory Distress Syndrome Anemia, Acute Anemia, Sickle Cell Aortic Stenosis Asthma Patent Ductus Arteriosus Pediatrics, Apnea Pediatrics, Bacteremia and Sepsis Pediatrics, Bronchiolitis Pediatrics, Crying Child Pediatrics, Foreign Body Ingestion Pediatrics, Pneumonia Pediatrics, Reactive Airway Disease Pediatrics, Respiratory Distress Syndrome Pneumothorax, Iatrogenic, Spontaneous and Pneumomediastinum Pulmonic Valvular Stenosis Shock, Cardiogenic Shock, Septic

Other Problems to be Considered:

Ebstein malformation of the tricuspid valvePulmonary atresiaVentricular septal defectPseudotruncus arteriosus

Lab Studies:

Oximetry and arterial blood gases

o Oxygen saturation is variable, but pH and pCO2 are normal unless the patient is in extremis, such as during a tet spell.

o Oximetry is particularly useful in the dark-skinned patient or the anemic patient whose level of cyanosis is not apparent.

o Cyanosis is not evident until 3-5 g/dL of reduced hemoglobin is present.

o A decrease in systemic vascular resistance (SVR) during exercise, bathing, or fever potentiates a right-to-left shunt and causes hypoxemia.

Hematology

o Prolonged cyanosis causes reactive polycythemia that increases the oxygen-carrying capacity.

o Hyperviscosity and coagulopathy often ensue and are particularly deleterious in patients with a right-to-left intracardiac shunt.

o Stroke and brain abscess are natural corollaries.

Imaging Studies:

Chest roentgenography

o Coeur en sabot (boot-shaped heart) secondary to uplifting of the cardiac apex from RVH and the absence of a normal main pulmonary artery segment (see Picture 2)

o Normal heart size due to the lack of pulmonary blood flow and congestive heart failure

o Decreased pulmonary vascularity

o Right atrial enlargement

o Right-sided aortic arch (20-25% of patients) with indentation of leftward-positioned tracheobronchial shadow

o May be normal in acyanotic TOF or may resemble findings of small- to moderate-sized VSD with mild RVH, right atrial enlargement, and increased pulmonary vascular markings

Echocardiography reveals a large VSD with an overriding aorta and variable degrees of RVOT obstruction.

Other Tests:

Electrocardiogram (see Picture 3)

o Right axis deviation (+120° to +150°)

o Right or combined ventricular hypertrophy

o Right atrial hypertrophy

Procedures:

Cardiac catheterization

o Assesses pulmonary annulus size and pulmonary arteries

o Assesses the severity of RVOT obstruction

o Locates the position and size of the VSD

o Rules out possible coronary artery anomalies

  TREATMENT Section 6 of 11   

Author Information Introduction Clinical Differentials Workup Treatment Medication Follow-up Miscellaneous Pictures Bibliography

Prehospital Care:

Any infant with cyanosis and/or respiratory distress requires oxygen.

Blow-by O2 (BBO2) is the least objectionable. Use the open-end of a cannula or tube.

Permit the baby to remain with the mother or father.

Do not provoke the infant by attempting to start an intravenous (IV) line, especially if not skilled in pediatric IV starts.

An intraosseous insertion could be an immediate lifesaving tool.

Emergency Department Care: The ED physician should be able to recognize and treat a hypercyanotic episode as one of the very few pediatric cardiology emergencies that may present to the ED.

Hypoxic tet spell: Hypercyanotic episodes are characterized by paroxysms of hyperpnea, prolonged crying, intense cyanosis, and decreased intensity of the murmur of pulmonic stenosis.

o Mechanism - Secondary to infundibular spasm and/or decreased SVR with increased right-to-left shunting at the VSD, resulting in diminished pulmonary blood flow

o If left untreated, may result in syncope, seizure, stroke, or death

Treatment for the acute setting of hypercyanosis includes the following:

o Knee-chest position: Place the baby on the mother's shoulder with the knees tucked up underneath. This provides a calming effect, reduces systemic venous return, and increases SVR.

o Oxygen is of limited value since the primary abnormality is reduced pulmonary blood flow.

o Morphine sulfate, 0.1-0.2 mg/kg IM/SC, may reduce the ventilatory drive and decrease systemic venous return.

o Phenylephrine, 0.02 mg/kg IV, is used to increase SVR.

o Treat acidosis with sodium bicarbonate, which may reduce the respiratory center stimulating effect of acidosis.

o General anesthesia is a last resort.

Consultations: Pediatric cardiology/surgery

  MEDICATION Section 7 of 11   

Author Information Introduction Clinical Differentials Workup Treatment Medication Follow-up Miscellaneous Pictures Bibliography

The goals of therapy are to reduce the ventilatory drive, decrease systemic venous return, and increase peripheral venous return.

Drug Category: Analgesics -- These agents reduce ventilatory drive. Pain control ensures patient comfort and promotes pulmonary toilet. Most analgesics have sedating properties, which are beneficial for patients who are having hypercyanotic episodes.

Drug Name

Morphine sulfate (Duramorph, Astramorph, MS Contin) -- DOC for narcotic analgesia because of its reliable and predictable effects, safety profile, and ease of reversibility with naloxone.Administered IV, may be dosed in number of ways and commonly titrated until desired effect obtained.

Pediatric Dose 0.05-0.2 mg/kg dose IV prn; not to exceed 15 mg/dose

Contraindications

Documented hypersensitivity; hypotension; potentially compromised airway with uncertain rapid airway control; respiratory depression; nausea; emesis; constipation; urinary retention

Interactions Phenothiazines may antagonize analgesic effects; TCAs, MAOIs, and other CNS depressants may potentiate adverse effects

Pregnancy B - Usually safe but benefits must outweigh the risks.

Precautions

Avoid in hypotension, respiratory depression, nausea, emesis, constipation, and urinary retention; caution in atrial flutter and other supraventricular tachycardias; has vagolytic action and may increase ventricular response rate

Drug Category: Alpha-adrenergic agonist -- These agents improve hemodynamic status by improving myocardial contractility and increasing heart rate, resulting in increased cardiac output. Peripheral resistance is increased by vasoconstriction. Increased cardiac output and increased peripheral resistance increase blood pressure.

Drug NamePhenylephrine (Neo-Synephrine) -- Strong postsynaptic alpha-receptor stimulant with little beta-adrenergic activity; produces vasoconstriction of arterioles, increasing peripheral venous return.

Pediatric Dose5-20 mcg/kg/dose IV bolus q10-15min prn0.1 mg/dose IV/SC q1-2h prn0.1-0.5 mcg/kg/min IV infusion

ContraindicationsDocumented hypersensitivity; severe hypertension; ventricular tachycardia

Interactions Bretylium may potentiate action on adrenergic receptors, possibly resulting in arrhythmias; MAOIs may significantly enhance adrenergic effects, and pressor response may be increased 2- to

3-fold; guanethidine may increase pressor response of direct-acting vasopressors, possibly resulting in severe hypertension

Pregnancy C - Safety for use during pregnancy has not been established.

Precautions

Caution in elderly patients, hyperthyroidism, myocardial disease, bradycardia, partial heart block or severe arteriosclerosis; in hypovolemia, not substitute for replacement of blood, fluids and electrolytes, and plasma (these should be restored promptly when loss has occurred)

  FOLLOW-UP Section 8 of 11   

Author Information Introduction Clinical Differentials Workup Treatment Medication Follow-up Miscellaneous Pictures Bibliography

Further Inpatient Care:

Palliative surgery

o Blalock-Taussig shunt

o Pott procedure

o Waterston shunt

Total surgical correction with patch closure of the VSD and relief of the ventricular outflow obstruction is preferred (see Picture 4).

Further Outpatient Care:

Good dental hygiene

Endocarditis prophylaxis

Arrhythmia prophylaxis may be warranted.

Complications:

Erythrocytosis

Brain abscess

Acute gouty arthritis

Infective endocarditis

Cerebrovascular thrombosis

Delayed puberty

Postoperative complications

o Congestive heart failure (right or left, residual outflow obstruction, VSD, and/or pulmonic regurgitation

o Atrial flutter, ventricular arrhythmias, right bundle-branch block, or left anterior hemiblock

o Infective bacterial endocarditis

Prognosis:

If right ventricular outflow tract obstruction is severe, the mortality rate is high without palliative or corrective surgery.

Patient Education:

For excellent patient education resources, visit eMedicine's Heart Center. Also, see eMedicine's patient education article Tetralogy of Fallot.

  MISCELLANEOUS Section 9 of 11   

Author Information Introduction Clinical Differentials Workup Treatment Medication Follow-up Miscellaneous Pictures Bibliography

Special Concerns:

Hypoxic tet spells

Physical and cognitive growth impairment

Brain abscess and stroke, secondary to the right-to-left shunt

Infective endocarditis

Polycythemia

  PICTURES Section 10 of 11   

Author Information Introduction Clinical Differentials Workup Treatment Medication Follow-up Miscellaneous Pictures Bibliography

Caption: Picture 1. Anatomic findings in tetralogy of Fallot.

View Full Size Image

eMedicine Zoom View (Interactive!)

Picture Type: ImageCaption: Picture 2. Uplifted apex and absence of pulmonary artery segment typifies the "coeur en sabot" (ie, boot-shaped heart) of tetralogy of Fallot.

View Full Size Image

eMedicine Zoom View (Interactive!)

Picture Type: X-RAYCaption: Picture 3. Typical preoperative ECG for tetralogy of Fallot.

View Full Size Image

eMedicine Zoom View (Interactive!)

Picture Type: ECGCaption: Picture 4. Typical findings on postoperative ECG for tetralogy of Fallot.

View Full Size Image

eMedicine Zoom View (Interactive!)

Picture Type: ECGhttp://www.emedicine.com/EMERG/topic575.htm

Tetralogy of Fallot (Disease)

Heart, section through the middle

Tetralogy of Fallot

Cyanotic ´Tet spell´

Definition

A type of heart defect present at birth (congenital) consisting of four different abnormalities. It usually results in insufficiently oxygenated blood being pumped to the body causing cyanosis (bluish discoloration of the skin).

Alternative Names

TET; TOF

Causes And Risk

The cause of most congenital heart defects is unknown. Multiple factors seem to be involved. Prenatal factors associated with higher than normal risk for this condition include maternal rubella or other viral illnesses during pregnancy, poor prenatal nutrition, maternal alcoholism, mother over 40 years old, and diabetes.

There is a higher incidence of tetralogy of Fallot in children with Down syndrome (a common genetic disorder which results from having an extra 21st chromosome).

Tetralogy of Fallot is classified as a cyanotic heart defect because the condition causes insufficiently oxygenated blood to be pumped to the body, which leads to cyanosis (a bluish-purple coloration to the skin) and shortness of breath.

The classic form of Tetralogy includes 4 defects within the heart structures:

Ventricular septal defect (hole between the right and left ventricles) Narrowing of the pulmonic outflow tract (tube that connects the heart with the lungs) An aorta (tube that carries oxygenated blood to the body) that arises from both ventricles, rather than

exclusively from the left ventricle A thickened muscular wall of the right ventricle (right ventricular hypertrophy)

There is flow of deoxygenated (blue) blood into the general body circulation and decreased blood flow to the lungs.

At birth, infants may not show the signs of the cyanosis, but later may develop sudden frightening episodes of bluish skin from crying or feeding (called "Tet spells"). Tetralogy of Fallot occurs in approximately 5 out of 10,000 infants.

Prevention

There is no known prevention.

Symptoms

Difficult feeding (poor feeding habits) Failure to gain weight Poor development Cyanosis which becomes more pronounced during periods of agitation Passing out Sudden death Clubbing of fingers (skin or bone enlargement around the finger nails) Shortness of breath aggravated by exercise Squatting during episodes of cyanosis

Signs And Tests

A physical examination with a stethoscope almost always reveals a heart murmur.

Tests:

EKG (elctrocardiogram) showing the thickening of the right ventricle muscle CBC showing increased red blood cells Chest X-ray showing a "boot shaped" heart and dark lungs Cardiac catheterization Echocardiogram for the definitive diagnosis

Treatment

Surgery to repair the defects in the heart is always performed relatively early in life. Sometimes a preliminary surgery to create increased blood flow to the lungs is done before definitive corrective surgery. Corrective surgery widens the narrowed pulmonary valve, and the ventricular septal defect is closed.

Parents of children with tetralogy of Fallot can be assisted in coping with the symptoms of the disease. Some interventions to consider include:

If a child does become blue, the parent should immediately place the child on his/her side and put the knees up to the chest, calm the baby and seek medical attention

Feeding the child slowly Giving smaller, more frequent meals Decreasing the child´s anxiety by remaining calm Minimizing crying by trying to anticipate the child´s needs Recruiting others to care for the child to prevent parental exhaustion and burn-out

Prognosis

Most cases can be surgically corrected. Prognosis (probable outcome) with surgery is good. Without surgery, death usually occurs around 20 years old.

Complications

Delayed growth and development Seizures during periods of insufficient oxygen

Call Health Care Provider

Call your health care provider if new unexplained symptoms develop or if the patient is having an episode of cyanosis (blue skin).

Disclaimer

Review Date: 5/7/2002

http://www.browardhealth.org/18677.cfm

Tetralogy Of Fallot Description of Tetralogy Of Fallot Causes and Risk Factors of Tetralogy Of Fallot Symptoms of Tetralogy Of Fallot Diagnosis of Tetralogy Of Fallot Treatment of Tetralogy Of Fallot Questions To Ask Your Doctor About Tetralogy Of Fallot

Definition of Tetralogy Of FallotA congenital cardiac anomaly that consists of four defects: pulmonic stenosis, ventricular septal defect, malposition of the aorta so that it arises from the septal defect or the right ventricle, and right ventricular hypertrophy.

Description of Tetralogy Of FallotTetralogy of Fallot is actually four defects in combination.

First, the septum that divides the two ventricles is incomplete (so there is a ventricular septal defect), and oxygen-poor blood is thus allowed to mix with oxygen-rich blood.

Second, the passageway from the right ventricle to the lungs is markedly narrowed.

Third, the origin of the aorta is shifted toward the right side of the heart from the left.

Fourth, the muscle in the wall of the right ventricle is thickened and stiffened.

Only the first two of these defects cause significant trouble or require an operation.

Tetralogy of Fallot constitutes about 10 percent of all congenital heart disease. It is the most common cyanotic heart defect; nearly 3,000 new cases a year occur in the U.S..

A French physician, Etienne Fallot, described this defect in 1888.

Causes and Risk Factors of Tetralogy Of FallotThe cause of this congenital abnormality is not known.

Symptoms of Tetralogy Of FallotThese defects result in decreased blood flow to the lungs and circulation of blue (unoxygenated) blood to the body tissues; both of these effects cause bluish skin (cyanosis), clubbing (bulging of the nailbeds) of the fingers and toes, shortness of breath, and extreme fatigue.

Diagnosis of Tetralogy Of FallotThe condition is suspected on the basis of the child's symptoms and a physical examination. A chest x-ray shows a characteristic shape of the heart. An ECG, echocardiography, and in some cases cardiac catheterization are performed to determine the extent of the abnormality.

Treatment of Tetralogy Of FallotInfants may require surgery (for example, the Blalock-Taussig shunt procedure) to improve blood flow to the lungs and decrease cyanosis. Once the child is past infancy, corrective open heart surgery is performed. The results of successful complete repair of Tetralogy of Fallot are good: cyanosis disappears, exercise tolerance improves, and people may lead normal lives.

Without an operation, only about 30 percent of people with Tetralogy of Fallot would survive to the age of 40 years. Surgery results in almost 90 percent of patients surviving for at least 25 years from the time of surgery; generally, the results are best if the defect is corrected before the patient is 12 years old. If an infant has severe symptoms at an early age, placement of a temporary shunt may be required to provide more blood flow to the lungs.

The long-term corrective procedure involves open-heart surgery, including two steps: closing the hole between the two ventricles and opening up the artery from the right ventricle to the lungs. The long-term results of the operation are good; most patients grow normally and have normal lives. A minority of patients have difficulties later in life with heart failure or heart rhythm disorders and may require additional surgery or continued medication.

If surgery is considered necessary, it is usually performed electively when the child is between the ages of 2 and 4. The holes most often can be closed with a suture, but if they are particularly large, a small patch made from the patient's own pericardial (outside wrapping of the heart) tissue or a Dacron patch can be used.

The operation provides a complete cure, and it is extremely rare for the holes to open up again. Antibiotic treatment to prevent infection need not be required for more than a few months after the operation, and the patient should be able to lead a full and active life.

Patients receive antibiotics before dental or surgical procedures (bacterial endocarditis prophylaxis). Other medications may also be prescribed.

http://scc.healthcentral.com/bcp/main.asp?page=ency&id=711&ap=93&brand=27

Chronic hypoxia caused by right-to-left shunting is associated with decreased neurologic function. Episodes of acute hypoxia from infundibular spasm are life threatening. Polycythemia associated with chronic hypoxia causes hypercoagulability and thrombosis. Right-to-left shunting that bypasses the filtering of pulmonary capillaries is associated with a higher incidence of systemic infection such as a brain abscess.http://www.emedicine.com/radio/byname/tetralogy-of-fallot.htm

Tetralogy of Fallot

From Wikipedia, the free encyclopedia

Jump to: navigation, searchTetralogy of Fallot

diagram of a healthy heart and one suffering from Tetralogy of fallot

ICD-10 Q 21.3

ICD-9 745.2

OMIM 187500

DiseasesDB 4660

MedlinePlus 001567

eMedicine emerg/575

The tetralogy of Fallot is a congenital heart defect which classically has four anatomical components. It is the most common cyanotic heart defect and the most common cause of blue baby syndrome.

It was first described by Niels Stensen in 1672. In 1888 the French physician Etienne Fallot accurately detailed its four anatomical characteristics.

Contents[hide]

1 Anatomic Morphology 2 Epidemiology and Etiology 3 Pathophysiology 4 Treatment

o 4.1 Emergency Management of Tet Spells o 4.2 Palliative Surgery o 4.3 Surgical Repair

5 External links [edit]

Anatomic Morphology

As classically described, tetralogy of Fallot involves four heart malformations:

1. A ventricular septal defect (VSD): a hole between the two bottom chambers (ventricles) of the heart.

2. Pulmonic stenosis : Right ventricular outflow tract obstruction, a narrowing at or just below the pulmonary valve. The degree of stenosis varies between individuals with TOF and is the primary cause of symptoms.

3. Overriding aorta : The aorta is positioned over the VSD instead of in the left ventricle.

4. Right ventricular hypertrophy (RVH): The right ventricle is more muscular than normal and may also be dilated. This causes a characteristic coeur-en-sabot (boot-shaped) appearance as seen by chest X-ray.

There is anatomic variation between the hearts of individuals with tetralogy of Fallot. The degree of right ventricular outflow tract obstruction varies between patients and is generally the primary determinant of clinical symptoms and disease progression. In addition, this condition is also sometimes associated with other anatomical analomies, such as:

o stenosis of the left pulmonary artery

(in 40% of patients) o a bicuspid pulmonary valve (in 40%

of patients) o right-sided aortic arch (in 25% of

patients) o coronary artery anomalies (in 10%

of patients) o an atrial septal defect, in which case

the syndrome is sometimes called the pentalogy of Fallot

o an atrioventricular septal defect o anomalous pulmnary venous return o forked ribs and scoliosis

Tetralogy of fallot with pulmonary atresia (pseudotruncus arteriosus) is a severe variant in which there is complete obstruction of the right ventricular outflow tract and absence of of the pulmonary trunk. In these individuals, there is complete right to left shunting of blood. The lungs are perfused via extensive collaterals from the systemic arteries. These individuals are severely cyanotic and will have a continuous murmur on physical exam due to the collateral circulation to the lungs.

[edit]

Epidemiology and Etiology

Tetralogy of Fallot occurs in approximately 3 to 6 per 10,000 births and represents 5-7% of congenital heart defects. Its cause is thought to be due to environmental or genetic factors or a combination. It is associated with chromosome 22 deletions and diGeorge syndrome. It occurs slightly more often in males than in females.

Our current understanding of the embryology of this disease is that it is a result of anterior malalignment of the conal septum, resulting in the clinical combination of a VSD, pulmonary stenosis, and an overriding aorta. The development of right ventricular hypertrophy is a result of progressive right heart failure arising from this combination, and can be minimized or even averted by early surgical repair.

[edit]

Pathophysiology

The tetralogy of Fallot generally results in low oxygenation of blood due to mixing of oxygenated and deoxygenated blood in the left ventricle and preferential flow of blood from the ventricles to the aorta because of obstruction to flow through the pulmonary valve. This is known as a right-to-left shunt. It is often evidenced by a bluish tint to the baby's skin (cyanosis). However there are "pink tets" in which the degree of obstruction in the right ventricular outflow tract is low. Blood flows preferentially from the ventricles to the lungs and only minimal desaturation occurs in the systemic circulation because of mixing of saturated and desaturated blood in the ventricles. This degree of desaturation may be undetectable to the eye and requires a pulse oximeter to identify it.

Even children who are generally not too deeply cyanosed (blue) may develop acute severe cyanosis or hypoxic "tet spells". The precise mechanism of spelling is in doubt, but certainly this is a dangerous event and presumably results from an increase in resistance to blood flow to the lungs with increased preferential flow of desaturated blood to the body.

Untreated tetralogy of Fallot, over the long term, results in progressive right ventricular hypertrophy and dilatation due to the increased resistance on the right ventricle. This progresses to right heart failure and death.

[edit]

Treatment

Tetralogy of Fallot is treated on two levels: with immediate emergency care for its aforementioned "hypoxic spells" or "tet spells" and with surgery for its long term progressive effects.

Actuarial survival for untreated tetralogy of Fallot is approximately 75% after the first year of life, 60% by four years, 30% by ten years, and 5% by forty years.

[edit]

Emergency Management of Tet Spells

Consequential acute hypoxia may be treated with beta-blockers such as propranolol, but acute episodes may require rapid intervention with oxygen, morphine to reduce ventilatory drive and

phenylephrine to increase blood pressure. There are also simple procedures such as the knee-chest position which reduces systemic venous return (to reduce the right-to-left shunting), increases systemic vascular resistance (and hence blood pressure) and provides a calming effect when the procedure is performed by the parent.

[edit]

Palliative Surgery

The condition was initially thought untreatable until surgeon Alfred Blalock, cardiologist Helen B. Taussig, and lab assistant Vivien Thomas at Johns Hopkins University developed a shunt procedure, which involved joining the left subclavian artery leaving the heart to the left pulmonary artery leading to the lungs. This gave a large portion of the partially oxygenated blood leaving the heart a second chance at oxygenation, and greatly relieved symptoms in patients. The first Blalock-Taussig shunt surgery was performed on three-year old Eileen Saxon on November 29, 1944.

The Pott shunt and the Waterson procedure are other shunt procedures which were developed for the same purpose.

[edit]

Surgical Repair

The Blalock-Taussig procedure was the first surgery to be performed on the great vessels surrounding the heart, and became historically important because it demonstrated to the medical community that heart surgery was indeed possible. The first total repair of tetralogy of Fallot was performed by C. Walton Lillehei at the University of Minnesota in 1954 on a 10-month boy. Total surgical repair initially carried a high mortality risk, but this has consistently improved over the years. Surgery is now often carried out in infants 1 year of age or younger with a <5% perioperative mortality. The surgery generally involves making incisions into the heart muscle, relieving the right ventricular outflow tract stenosis by careful resection of muscle, and repairing the VSD using a Gore-Tex or Dacron patch or a homograft. Additional reparative or reconstructive work is done on some patients, since the anatomy varies.

Patients who have undergone "total" repair of tetralogy of Fallot often have good or excellent cardiac function after the operation with some to no exercise intolerance and have the potential to lead normal lives. Surgical success greatly depends on the particular anatomy of the patient and the surgeon's skill and experience with this type of repair.

While current surgical techniques greatly improve the hemodynamic function of the defective heart, it does not completely correct the defect. Patients with repaired tetralogy of Fallot often have a leaky pulmonary valve, some degree of residual right outflow tract stenosis, and damage to the electrical system of the heart from the surgical incisions.

Long-term follow up studies show that these patients are at risk for sudden cardiac death and heart failure. Therefore, long-term follow-up care by a cardiologist with expertise in congenital heart disease is recommended to monitor these risks and to recommend any action, such as interventional procedures or re-operation, if it becomes necessary.

As with patients that have undergone any heart surgery, antibiotic prophylaxis is indicated during dental treatment in order to prevent infective endocarditis.

http://en.wikipedia.org/wiki/Tetralogy_of_Fallot

Congenital Cardiovascular Defects

What is a congenital cardiovascular defect?

Congenital means inborn or existing at birth.  Among the terms you may hear are congenital heart defect, congenital heart disease and congenital cardiovascular disease.  The word "defect" is more accurate than "disease."  A congenital cardiovascular defect occurs when the heart or blood vessels near the heart don't develop normally before birth.

What causes congenital cardiovascular defects?

Congenital cardiovascular defects are present in about 1 percent of live births. They're the most common congenital malformations in newborns.  In most cases scientists don't know why they occur.  Sometimes a viral infection causes serious problems.  German measles (rubella) is an example.  If a woman contracts German measles while pregnant, it can interfere with how her baby's heart develops or produce other malformations.  Other viral diseases also may cause congenital defects.

Heredity sometimes plays a role in congenital cardiovascular defects.  More than one child in a family may have a congenital cardiovascular defect, but this rarely occurs. Certain conditions affecting multiple organs, such as Down's syndrome, can involve the heart, too.  Some prescription drugs and over-the-counter medicines, as well as alcohol and "street" drugs, may increase the risk of having a baby with a heart defect.  Researchers are studying other factors.

What are the types of congenital defects?

Most heart defects either obstruct blood flow in the heart or vessels near it, or cause blood to flow through the heart in an abnormal pattern.  Rarely defects occur in which only one ventricle (single ventricle) is present, or both the pulmonary artery and aorta arise from the same ventricle (double outlet ventricle).  A third rare defect occurs when the right or left side of the heart is incompletely formed – hypoplastic heart.

Cyanotic defects

Another type of heart defect is congenital cyanotic (si"ah-NOT'ik) heart defects.  In these defects, blood pumped to the body contains less oxygen than normal.  This causes a condition called cyanosis (si"ah-NO'sis), a blue discoloration of the skin.  Infants with cyanosis are often called "blue babies."

Examples of cyanotic defects are tetralogy of Fallot, transposition of the great arteries, tricuspid atresia, pulmonary atresia, truncus arteriosus and total anomalous pulmonary venous connection.

Tetralogy of Fallot (TE'TRAL'o-je of fal-O') has four components.  The two major ones are a large hole, or ventricular septal defect, that lets blood pass from the right to the left ventricle without going through the lungs; and a narrowing (stenosis) at or just beneath the pulmonary valve.  This narrowing partially blocks the blood flow from the heart's right side to the lungs.  The other two components are: the right ventricle is more muscular than normal; and the aorta lies directly over the ventricular septal defect.

This results in cyanosis (blueness), which may appear soon after birth, in infancy or later in childhood.  These "blue babies" may have sudden episodes of severe cyanosis with rapid breathing.  They may even become unconscious.  During exercise, older children may become short of breath and faint.  These symptoms occur because not enough blood flows to the lungs to supply the child's body with oxygen.

Some infants with severe tetralogy of Fallot may need an operation to give temporary relief by increasing blood flow to the lungs with a shunt.  This is done by making a connection between the aorta and the pulmonary artery.  Then some blood from the aorta flows into the lungs to get more oxygen.  This reduces the cyanosis and allows the child to grow and develop until the problem can be fixed when they are older.

Most children with tetralogy of Fallot have open-heart surgery before school age.  The operation involves closing the ventricular septal defect and removing the obstructing muscle.  After surgery the long-term outlook varies, depending largely on how severe the defects were before surgery.  Lifelong medical follow-up is needed.

People with tetralogy of Fallot, before and after treatment, are at risk for getting an infection within the aorta or the heart valves (endocarditis).  To help prevent this, they'll need to take antibiotics before certain dental and surgical procedures.

Transposition of the great arteries — The positions of the pulmonary artery and the aorta are reversed.  The aorta is connected to the right ventricle, so most of the blood returning to the heart from the body is pumped back out without first going to the lungs.  The pulmonary artery is connected to the left ventricle, so most of the blood returning from the lungs goes back to the lungs again.

Infants born with transposition survive only if they have one or more connections that let oxygen-rich blood reach the body.  One such connection may be a hole between the two atria, called atrial septal defect, or between the two ventricles, called ventricular (ven-TRIK'u-ler) septal defect.  Another may be a vessel connecting the pulmonary artery with the aorta, called patent ductus arteriosus (PA'tent DUK'tus ar-te"re-O'sis).  Most babies with transposition of the great arteries are extremely blue (cyanotic) (si"ah-NOT'ik) soon after birth because these connections are inadequate.

To improve the body's oxygen supply, a special procedure called balloon atrial septostomy (sep-TOS'to-me) is used.  Two general types of surgery may be used to help fix the transposition.  One is a venous switch or intra-atrial baffle procedure that creates a tunnel inside the atria.  Another is an arterial switch.  After surgery, the long-term outlook varies quite a bit.  It depends largely on how severe the defects were before surgery. Lifelong follow-up is needed.

People with transposition of the great arteries, before and after treatment, are at risk for getting an infection on the heart's walls or valves (endocarditis).  To help prevent this, they'll need to take antibiotics before certain dental and surgical procedures.

http://www.americanheart.org/presenter.jhtml?identifier=4565

Congenital Cardiovascular Defects Treatments

Many children with congenital heart and blood vessel defects may need medical treatment such as diuretics, digoxin or other drugs. Diuretics help the body excrete water and salts by promoting urination. Digoxin strengthens the heart's contractions, slows the heart rate and helps remove extra fluid from body tissues. Some children may need surgery.

What surgical procedures are used?

The following surgical procedures are described in this section:

 Arterial switch  Pulmonary artery banding

 Balloon atrial septostomy  Ross procedure

 Balloon valvuloplasty  Shunt or shunting procedure

 Damus-Kaye-Stansel procedure  Venous switch or intra-atrial baffle

 Fontan procedure or operation  

Arterial (ar-TE're-al) switch -- A surgical procedure in which the major arteries are switched in babies whose great arteries are transposed. The aorta is connected to the left ventricle, which pumps oxygen-rich (red) blood to the body. The pulmonary artery is connected to the right ventricle, which pumps venous (bluish) blood to the lungs. This arterial switch may be done in the first few weeks after birth or, depending on various factors, slightly later. If there's a large ventricular (ven-TRIK'u-ler) septal defect or other defects related to the transposition, the repair gets more complicated. Then other surgical procedures may be needed.

Balloon atrial septostomy (A'tre-al sep-TOS'to-me) -- A special procedure used during heart catheterization to improve the body's oxygen supply in babies whose great arteries are transposed. It enlarges the atrial opening and helps reduce cyanosis (si"ah-NO'sis) (blueness).

Balloon valvuloplasty (VAL'vu-lo-plas-te) -- A procedure in which a special catheter (a tube introduced into a blood vessel and threaded to the heart) containing a deflated balloon is inserted into the opening of a narrowed heart valve. When the balloon is inflated, the valve is stretched open; then the balloon is removed. The procedure is used with favorable results to improve blood flow in pulmonary stenosis (sten-O'sis). It's also used in some cases of aortic stenosis, where the long-term results are still being studied.

Damus-Kaye-Stansel procedure -- A surgical technique used to repair congenital transposition of the great arteries of the heart by dividing (cutting) the pulmonary artery in two, and attaching the closest (proximal) section to the ascending aorta and connecting the farthest (distal) section to the right ventricle.

Fontan procedure or operation -- A surgical procedure in which the right atrium is connected to the pulmonary artery either directly or with a conduit. This allows blood to bypass an incomplete or underdeveloped right ventricle, as in tricuspid atresia (ah-TRE'zhuh) and pulmonary atresia. The atrial defect is also closed to relieve cyanosis (si"ah-NO'sis) (blueness).

Pulmonary artery banding -- A procedure in which a surgeon places a band around the pulmonary artery to narrow it and reduce the blood flow and high pressure in the lungs. This is done to relieve such defects as ventricular (ven-TRIK'u-ler) septal defect, atrioventricular (A'tre-o-ven-TRIK'u-ler) canal defect, and tricuspid atresia (ah-TRE'zhuh). When the child is older, doctors can remove the band and fix the defect with open-heart surgery.

Ross procedure -- A procedure in which a person's diseased or abnormal aortic valve is replaced with the patient's own pulmonary valve (pulmonary autograft). A homograft valve (valve from a human donor) is then placed where the pulmonary valve was.

Shunt or shunting procedure -- An operation that forms a passage between blood vessels to divert blood from one part of the body to another. It's used to reduce the cyanosis (si"ah-NO'sis) (blueness) in infants with severe tetralogy of Fallot (TE'TRAL'o-je of fal-O') and those with tricuspid atresia (ah-TRE'zhuh) or pulmonary atresia.

Venous switch or intra-atrial baffle -- A procedure that creates a tunnel inside the atria to help correct transposition of the great arteries. It redirects oxygen-rich (red) blood to the right ventricle and aorta, and redirects venous (bluish) blood to the left ventricle and pulmonary artery. In the Mustard procedure, the intra-atrial baffle is made of tissue from the pericardium (pair"e-KAR'de-um). In the Senning procedure, the intra-atrial baffle is made of flaps from the atrial wall.

http://www.americanheart.org/presenter.jhtml?identifier=4580

Definition    Return to top

Congenital heart diseases are abnormalities of the heart's structure and function caused by abnormal or disordered heart development before birth.

Causes, incidence, and risk factors    Return to top

Congenital heart disease (CHD) is a broad term that can describe a number of different abnormalities affecting the heart. Congenital heart disease is, by definition, present at birth although its effects may not be obvious immediately. In some cases, such as coarctation of the aorta, it may not present itself for many years and a few lesions such as a small ventricular septal defect (VSD) may never cause any problems and are compatible with normal physical activity and a normal life span.

According to the American Heart Association, approximately 35,000 babies are born each year with some type of congenital heart defect. Congenital heart disease is responsible for more deaths in the first year of life than any other birth defects. Many of these defects need to be followed carefully; though some heal over time, others will require treatment

Some congenital heart diseases can be treated with medication alone, while others require one or more surgeries. The risk of death from congenital heart disease surgery has dropped from approximately 30% in the 1970s to less than 5% in most cases today.

Congenital heart disease is often divided into two types: those with cyanosis (blue discoloration caused by a relative lack of oxygen) and those without cyanosis. The following lists cover the most common of the congenital heart diseases:

Cyanotic:

Tetralogy of Fallot Transposition of the great vessels Tricuspid atresia Total anomalous pulmonary venous return Truncus arteriosus Hypoplastic left heart Hypoplastic right heart Ebstein's anomaly

Non-cyanotic:

Ventricular septal defect (VSD) Atrial septal defect (ASD) Patent ductus arteriosus (PDA) Aortic stenosis Pulmonic stenosis Coarctation of the aorta Atrioventricular canal (endocardial cushion defect)

These abnormalities may occur as single defects or in various combinations. VSD is the most commonly diagnosed congenital heart defect (about one-third of all cases) and it is seen almost three times as often as ASD and PDA, which are the next most common.

The majority of congenital heart diseases occur as an isolated defect and are not associated with other diseases. However, they can also be a part of various genetic and chromosomal syndromes, such as Down syndrome, trisomy 13, Turner's syndrome, Marfan syndrome, Noonan syndrome, Ellis-van Creveld syndrome.

Drugs, chemicals, and infections during pregnancy can also cause congenital heart abnormalities. Fetal rubella, maternal alcohol use (fetal alcohol syndrome), and use of retinoic acid (for acne) are some causes of congenital heart disease in an infant.

Symptoms    Return to top

See the individual congenital conditions.

Signs and tests    Return to top

See the individual congenital conditions.

Treatment    Return to top

See the individual congenital conditions. Most types require medications and/or surgery to repair the defect.

Expectations (prognosis)    Return to top

The prognosis varies depending on the type and extent of the defect.

Complications    Return to top

Many of these disorders respond well to treatment. See the individual disorders.

Calling your health care provider    Return to top

Call your health care provider if you suspect that your child has a heart problem.

Prevention    Return to top

Avoid alcohol and other drugs during pregnancy. Physicians should be made aware that a woman is pregnant before prescribing for any medications for her. The immune status for rubella should evaluated early in the pregnancy. If the mother is not immune, she must avoid any possible exposure to rubella and should be immunized immediately following delivery.

There may be some hereditary factors that play a role in congenital heart disease. It is rare but not impossible for more than one child in a family to have a congenital heart defect. Experts believe that some prescription and over-the-counter medications and street drugs used during pregnancy increase the risk of heart defects.

There is, however, no definitive cause that can be identified for most congenital heart defects. Congenital heart diseases continue to be investigated and researched.

One of the most important factors in determining the outcome of a baby born with a congenital heart disease is whether the defect was found and followed during the pregnancy. Therefore, it is of the utmost importance that expectant mothers receive good prenatal care. Many of these defects can be discovered on routine ultrasound examinations performed by an obstetrician. The delivery can then be anticipated and the appropriate medical personnel (such as a pediatric cardiologist, a cardiothoracic surgeon, ans a neonatologist) can be present, ready to intervene as necessary. This can make the difference between life and death for some babies.

Update Date: 5/17/2004 Updated by: Elchanan Bruckheimer MBBS, Director of Pediatric Cardiac Catheterization, Schneider Children's Medical Center Israel, Petach Tikva,

Israel. Review provided by VeriMed Healthcare Network.

http://www.nlm.nih.gov/medlineplus/ency/article/001114.htm

What Is a Congenital Heart Defect?

A congenital heart defect is a structural problem (or defect) in the heart that is present at birth. A baby's heart begins to develop shortly after conception. During development, structural defects can occur. These defects can involve the walls of the heart, the valves of the heart, and the arteries and veins near the heart. Congenital heart defects can disrupt the normal flow of blood through the heart. The blood flow can:

Slow down

Go in the wrong direction or to the wrong place

Be blocked completely

Congenital heart defect is the most common type of major birth defect. Each year, more than 30,000 babies in the United States are born with congenital heart defects.

Types of Congenital Heart Defects

There are many types of congenital heart defects. They include:

Abnormal passages in the heart or between blood vessels

Problems with the heart valves

Problems with the placement or development of blood vessels near the heart

Problems with development of the heart itself

To better understand the effects of these problems, see "How the Heart Works."

Some of these problems are described below.

Abnormal passages in the heart or between blood vessels

Atrial septal defect (ASD) is a hole in the wall that separates the upper chambers (atria (AY-tree-uh)) of the heart. This

causes blood to leak from one atrium to the other.

Ventricular septal defect (VSD) is a hole in the wall that separates the lower chambers (ventricles (VEN-trih-kuls)) of the

heart. This causes blood to leak from one ventricle to the other.

Atrioventricular septal defect (AVSD) includes an ASD, VSD, and abnormal development of the atrioventricular valves

(tricuspid (tri-CUSS-pid) and mitral (MI-trul)). This causes blood to flow abnormally inside the heart. An AVSD is also known as

an atrioventricular canal defect.

Patent ductus arteriosus (PDA) is a persistent connection between the aorta and the pulmonary (PULL-mun-ary) artery. This

connection is called the ductus arteriosus and is normally present before birth. In most babies, the vessel closes within a few

hours or days after birth. In some children, the vessel fails to close, resulting in PDA.

Problems with the heart valves

Congenital heart defects can involve any of the valves and include the following types of problems:

Stenosis. The valve opening is narrow and does not open completely.

Atresia. The valve does not form, so there is no opening for blood to pass from one chamber to another.

Regurgitation. The valve does not close completely, so blood can leak back through the valve.

Examples of particular heart valve problems include:

Aortic valve stenosis is a narrowing of the aortic (ay-OR-tik) valve in the heart that causes it to open incompletely. This can

reduce blood flow to the body.

Pulmonary valve atresia is a defect in which a solid sheet of tissue forms in place of the pulmonary valve. This prevents

blood in the right side of the heart from traveling normally to the lungs to pick up oxygen.

Pulmonary valve stenosis is a narrowing of the pulmonary valve. The narrowing slows the flow of blood from the right side of

the heart to the lungs. The heart must pump harder to push blood through the smaller opening.

Tricuspid valve atresia is a defect in which a solid sheet of tissue forms in place of the tricuspid valve. Without the tricuspid

valve, blood entering the right atrium cannot travel normally to the right ventricle and then to the lungs to pick up oxygen.

Ebstein's anomaly is a defect in which the tricuspid valve is both displaced and abnormally formed. The valve leaks and

allows blood to flow back into the right atrium instead of to the lungs to pick up oxygen.

Problems with placement or development of blood vessels near the heart

Transposition of the great vessels is a defect in which the location of the "great vessels" (the aorta and pulmonary artery)

coming off the heart is switched. The aorta comes off the right ventricle instead of the left ventricle. The pulmonary artery

comes off the left ventricle instead of the right ventricle. Therefore, blood without oxygen is continually pumped to the body,

instead of blood with oxygen.

Tetralogy of Fallot is a combination of four defects:

o Pulmonary valve stenosis is the narrowing of the pulmonary valve. The narrowing slows the flow of blood from the

right ventricle to the lungs.

o VSD is a hole in the wall that separates the left and right ventricles.

o Overriding aorta is a defect in which the aorta is positioned between the left and right ventricles, over the VSD.

o Right ventricular hypertrophy is the thickening of the right ventricle. The thickening is caused by the heart having to

work harder because of the other defects.

Truncus arteriosus is a defect of the great vessels. The aorta and pulmonary artery do not form as separate arteries. Instead,

a large artery, called the truncus, comes from the heart. As the truncus leaves the heart, it may branch into arteries that carry

blood to the body and to the lungs.

Coarctation of the aorta is a narrowing of the aorta. It slows or blocks the flow of blood from the heart to the body.

Anomalous pulmonary venous return is a defect in which one or more of the four pulmonary veins, which normally return

oxygen-rich blood from the lungs to the heart, return to the wrong chamber in the heart.

Problems with development of the heart

Hypoplastic left heart syndrome is a combination of defects in which the left side of the heart does not develop properly.

Defects usually include mitral atresia, aortic atresia, and a tiny left ventricle.

o Mitral atresia occurs when a solid sheet of tissue forms instead of the mitral valve, which separates the left atrium and

the left ventricle.

o Aortic atresia occurs when a solid sheet of tissue forms instead of the aortic valve, which separates the left ventricle

from the aorta.

Single ventricle describes a group of heart defects in which only one ventricle is present instead of two. It can be a single right

or a single left ventricle. The other ventricle is usually absent or very tiny. Hypoplastic left heart syndrome is an example of a

single ventricle defect.

Today, the outlook for an infant born with a heart defect is much better than it was 30 years ago. Rapid advances in infant and childhood surgery, better tests, and new medicines help most children with congenital heart defects. Many children born with more complex or severe heart defects now reach adulthood. Today, there are more than 1 million adults living with congenital heart defects.

http://www.nhlbi.nih.gov/health/dci/Diseases/chd/chd_what.html

Congenital Heart Defects

More than 32,000 infants (one out of every 125 to 150) are born with heart defects each year in the United States. The defect may be so slight that the baby appears healthy for many years after birth, or so severe that its life is in immediate danger.

Heart defects are among the most common birth defects, and are the leading cause of birth defect-related deaths. However,  advances in diagnosis and surgical treatment over the past 40 years have led to dramatic increases in survival for children with serious heart defects. Between 1987 and 1997, the death rates from congenital heart defects dropped 23 percent.

What is a congenital heart defect?A condition is called congenital when it is present at birth. Heart defects originate in the early part of pregnancy when the heart is forming. Congenital heart defects can affect any of the different parts or functions of the heart.

How does the heart work?The heart is a muscle that pumps blood to the body. It is divided into four hollow parts called chambers. Two chambers are located on the right side of the heart, and two are on the left.

Within the heart are four valves (one-way openings) that let the blood go forward and keep it from going back. Blood goes from the heart to the lungs where it picks up oxygen. The blood carrying oxygen, which appears bright red, goes back to the heart. The heart then pumps the oxygen-rich blood through the body by way of arteries. As the oxygen is used up by the body's tissues and organs, the blood becomes dark and returns by way of veins to the heart, where the process starts over again.

How do heart defects affect a child?Some babies and children with heart defects experience no symptoms. The heart defect may be diagnosed if the doctor hears an abnormal sound, referred to as a murmur. Children with normal hearts also can have heart murmurs. These are called "innocent" or "functional" murmurs. A physician may suggest tests to rule out a heart defect.

Certain heart defects prevent the heart from pumping adequate blood to the lungs or other parts of the body. This can cause congestive heart failure. An affected child may experience a rapid heartbeat and breathing difficulties, especially during exercise (or in infants, during feeding—sometimes resulting in inadequate weight gain). Swelling of the legs or abdomen or around the eyes also may occur.

Some heart defects result in a pale grayish or bluish coloring of the skin (called cyanosis), usually appearing soon after birth or during infancy. On occasion, it may be delayed until later in childhood. It is a sign of defects that prevent the blood from getting enough oxygen. Children with cyanosis may tire easily. Symptoms such as shortness of breath and fainting often worsen when the child exerts himself. Some youngsters may squat frequently to ease their shortness of breath.

What causes congenital heart defects?In most cases, scientists do not know what makes a baby's heart develop abnormally. Both genetic and environmental factors appear to play roles.

Among the few environmental factors known to contribute to congenital heart defects are a virus and certain drugs. Women who contract rubella (German measles) during the first three months of pregnancy have a high risk of having a baby with a heart defect. Other viral infections also may contribute.

Certain medications also increase the risk. These include the acne medication Accutane, lithium (used to treat certain forms of mental illness) and, possibly, certain anti-seizure medications. Drinking alcohol in pregnancy also can increase the risk of heart defects—babies with fetal alcohol syndrome (FAS) often have them. Studies also suggest that use of cocaine in pregnancy increases the risk of these birth defects.

Certain chronic illnesses in the mother also can increase the risk of heart defects. For example, women with diabetes are at increased risk of having a baby with a heart defect, although this risk can be reduced or eliminated if the diabetes is closely controlled, starting before pregnancy. Women with an inborn error of body chemistry called phenylketonuria (PKU) also are at high risk of having a baby with a heart defect, unless they follow a special diet before pregnancy and during the first trimester. Several studies suggest that women who do not consume enough of the B vitamin folic acid before and during the early weeks of pregnancy are at increased risk of having a baby with a heart defect.

While most families have no more than one child with a heart defect, these malformations are more likely to occur in siblings or offspring of people who have heart defects than in unaffected families. This fact has long suggested that genetics plays a role in heart defects, at least in those families. In fact, scientists have recently discovered more than 100 mutations (changes) in more than a dozen genes that directly impair the heart. Many of these mutations cause cardiomyopathy (enlargement of the heart) or heart rhythm disturbances that can be fatal in childhood, adolescence or adulthood.

However, scientists also have pinpointed several mutations that affect the formation of the heart, leading to congenital heart malformations. For example, in 1999 a March of Dimes grantee at the University of Texas Southwestern Medical Center in Dallas discovered a gene that appears to contribute to a common, important group of malformations affecting the heart’s outflow tract and the blood vessels arising from it. Researchers at Harvard Medical School identified a gene responsible for the heart defect called atrial septal defect (a hole between the upper chambers of the heart) in four families with multiple members affected by heart disease. The same researchers also identified another gene mutation that causes atrial septal defects accompanied by arm and hand malformations (Holt-Oram syndrome).

Researchers appear to be on the brink of discovering the genes that underlie numerous heart defects. They have recently identified several genes that direct development of the embryonic heart in mice. This should greatly improve our understanding of these genes’ human counterparts—and possibly lead to ways to prevent the various heart defects that mutations of those genes may cause.

Heart defects also can be part of a wider pattern of birth defects. For example, more than one-third of children with the chromosomal abnormality Down syndrome (characterized by mental retardation and physical birth defects) have heart defects, as do about a quarter of girls with another chromosomal abnormality called Turner syndrome (short stature, lack of sexual development and other problems). In fact, approximately 10 percent of children with heart defects have a chromosomal abnormality. Children with Down, Turner and certain other chromosomal abnormalities should be routinely evaluated for heart defects. Heart defects also are common in children with a variety of inherited disorders, including: Noonan (short stature, learning disabilities), Alagille (liver and other problems), Marfan (skeletal and eye defects) and Williams (mental retardation) syndromes.

How are congenital heart defects treated?The outlook has never been brighter for babies and children with congenital heart defects. Today, most heart defects can be corrected, or at least helped, by surgery, medicine or devices such as artificial valves and pacemakers.

In the last 30 years, advances in treatment of heart defects have enabled nearly 1 million U.S. children with significant heart defects to survive into adulthood. Half the children who require surgical repair of a heart defect now undergo surgery before age two. Until fairly recently, it was often necessary to make temporary repairs and postpone corrective surgery until later in childhood. Early corrective surgery often prevents development of additional complications and allows the child to live a more normal life sooner. Some of the most common defects include:

Patent ductus arteriosus. Before birth, much of a fetus’s  blood goes through a passageway (ductus arteriosus) from one blood vessel to another instead of through the lungs, because the lungs are not yet in use. The passageway should close soon after birth, so the blood can take the normal route from heart to lungs and back. If it doesn't close, blood doesn't flow correctly. This problem occurs most frequently in premature babies. In some cases, drug treatment can help close the passageway. If that doesn't work, surgery can close it.

Septal defects. If the defect is a hole in the wall (septum) that divides the two upper or two lower chambers, the blood can't circulate as it should and the heart has to work too hard. A surgeon can close the hole by sewing or patching it. Small holes may heal by themselves or not need repair at all.

Coarctation of the aorta. Part of the aorta, the large artery that sends blood from the heart to the rest of the body, may be too narrow for the blood to flow evenly. A surgeon can cut away the narrow part and sew the open ends together, replace the constricted section with man-made material, or patch it with part of a blood vessel taken from elsewhere in the body. Sometimes, this narrowed area can be widened by inflating a balloon on the tip of a catheter inserted through an artery.

Heart valve abnormalities. Some babies are born with heart valves that do not close normally or are narrowed, closed or blocked and prevent blood from flowing smoothly. Surgeons usually can repair the valves or replace them with man-made ones. Balloons on catheters also are frequently used to fix faulty valves.

Tetralogy of Fallot. A combination of four heart defects keeps some blood from getting to the lungs, so that a baby has episodes of cyanosis and may grow poorly. New surgical techniques allow early repair of this complex heart defect, so that most affected children live normal or near-normal lives.

Transposition of the great arteries. Here, the positions of the two major arteries leaving the heart are reversed, so that  each arises from the wrong pumping chamber. Recent surgical advances have enabled correction of this otherwise lethal defect in the early newborn period.

Hypoplastic left heart syndrome. A combination of defects results in a left ventricle (the heart’s main pumping chamber) that is too small to support life. This defect is the most common cause of death from congenital heart disease. New surgical procedures and heart transplants have begun to save some of these babies, but the long-term outlook for these babies remains uncertain.

Children and adults with certain heart defects, even after surgical repair, remain at increased risk of infection involving the heart and its valves. Parents of children with heart defects and adults with repaired heart defects should discuss with their doctor whether they need to take antibiotics before certain dental and surgical procedures in order to prevent these infections.

Is there a prenatal test for congenital heart defects?A special form of sonography (looking at the fetus by means of sound waves) called echocardiography can accurately identify  many heart defects. If certain heart problems, such as a heart that is beating too fast or too slowly, are diagnosed before birth, medications may restore a normal heart rhythm before the fetal heart starts to fail. In other cases, where the heart defect can't be treated before birth, knowing that it exists enables doctors to be ready to give the baby the treatment it needs as soon as it is born.

Can congenital heart defects be prevented?While most congenital heart defects cannot yet be prevented, there are some steps a woman can take that may help reduce her risk of having a baby with a heart defect. A woman should be tested prior to pregnancy for immunity to rubella, and vaccinated if she is not immune. Pregnant women should avoid alcohol and unprescribed drugs. Those with chronic health conditions such as diabetes, seizure disorders and PKU should consult their doctors before they attempt to conceive so that their medications and/or diets can be adjusted. Any woman who could become pregnant should take a multivitamin containing 400 micrograms of folic acid daily to reduce the risk of serious birth defects of the brain and spinal cord and,

possibly, other birth defects including heart defects.

Genetic counselors can tell parents of affected children roughly what the chances are that any future child of theirs will have a heart defect. Siblings of an affected child are slightly more likely than other children to have the same kind of heart defect as their brother or sister. In some cases, if the affected child's heart defect is part of a syndrome of other defects, the recurrence risk may be higher. Parents who themselves have a heart defect also are at increased risk of having a child with a heart defect.

What research is under way on congenital heart defects?Scientists funded by the March of Dimes are among many who are trying to learn more about the causes of heart defects, so that they can develop better ways of preventing and treating them. For example, several March of Dimes grantees are studying genes that may underlie specific heart defects. While nearly all heart defects are attributed to interactions of unknown genes with usually unknown environmental factors, few causal genes have yet been linked with specific heart defects. Grantees also are seeking to develop better ways to treat babies with serious heart defects.

References American Heart Association. Congenital cardiovascular disease. Heart and Stroke A-Z Guide. American Heart Association, 2000.

Brickner, M.E., et al. Congenital heart disease in adults, part 1. New England Journal of Medicine, volume 342, number 4, January 27, 2000, pages 256-263.

Brickner, M.E., et al. Congenital heart disease in adults, part 2. New England Journal of Medicine, volume 342, number 5, February 3, 2000, pages 334-342.

Lewin, M.B. The genetic basis of congenital heart disease. Pediatric Annals, volume 29, number 8, August 2000, pages 469-480.

Morris, C.D., et al. Thirty-year incidence of infective endocarditis after surgery for congenital heart defect. Journal of the American Medical Association, volume 279, number 8, February 25, 1998, pages 599-603.

09-265-00  1/01

Cyanosis Cyanosis is a condition in which the lips, fingers, and toes appear blue. It happens in some people with congenital heart defects that cause the blood to circulate abnormally.

In normal circulation, oxygen-poor blood enters the right side of the heart. The right side of the heart pumps blood to the lungs, where the blood picks up oxygen. From there, it enters the left side of the heart, which pumps the oxygen-rich blood to the rest of the body.

In people with congenital heart defects, cyanosis can happen if the defect allows oxygen-poor blood from the right side of the heart to enter the left side of the heart directly, instead of traveling to the lungs for more oxygen. In the left side of the heart, the oxygen-poor blood mixes with oxygen-rich blood to be pumped through the body.

Although oxygen-poor blood is not blue, it is not as bright red as oxygen-rich blood. The low oxygen level in the blood is what makes the lips, fingers, and toes look blue.

Congenital heart defects that cause cyanosis include

Tetralogy of Fallot Transposition of the great arteries Persistent truncus arteriosus Tricuspid atresia Pulmonary atresia Total anomalous pulmonary venous connection

Hypoplastic left heart syndrome http://www.texasheartinstitute.org/HIC/Topics/Cond/cyanosis.cfm

Tetralogy of Fallot

Tetralogy of Fallot is made up of 4 heart defects:

A hole in the wall between the lower chambers (the ventricles), which lets oxygen-poor blood mix with oxygen-rich blood. This is called a ventricular septal defect.  

A narrowed outlet to the pulmonary artery, usually combined with an abnormal pulmonary valve. This can block blood flow from the lower-right chamber (the right ventricle) into the lungs.  

An aorta that straddles the wall (septum) between the lower chambers (the ventricles). This lets oxygen-poor blood flow into the aorta (the main blood supplier to the body).  

Thickened and enlarged heart muscle tissue in the lower-right chamber (the right ventricle).

The narrowed pulmonary valve limits blood flow to the lungs, and the ventricular septal defect allows oxygen-poor blood to be pumped into the body along with oxygen-rich blood. Together, these defects make the level of oxygen in the blood too low. When oxygen-poor blood is pumped into the body, the fingers, toes, and lips may appear blue. This condition is called cyanosis.

How is it treated?

Infants with tetralogy of Fallot usually need surgery. One type of surgery that is used to temporarily fix the condition is called a shunt procedure. This is a short-term solution that allows more blood to reach the lungs until the defects can be corrected. This reduces cyanosis and lets the child grow until the problem can be fixed when he or she is older.

Open heart surgery to correct the defects is usually performed between the ages of 8 months and 5 years. The ventricular septal defect is usually covered with a patch, the pulmonary valve is widened, and a patch may also be placed on the right ventricle to increase blood flow to the lungs. Studies have shown that the earlier surgery is done, the better the heart works later in life.

http://www.texasheartinstitute.org/HIC/Topics/Cond/tetralog.cfm

CHD1:Common congenital heart defectsCongenital heart defects are abnormalities that develop before birth. They can occur in the heart's chambers, valves or blood vessels. A baby may be born with only one defect or several that tend to occur in combination. Of the dozens of heart defects, some are mild and may need minimal or no medical treatment even through adulthood, while others are life-threatening, either immediately to the newborn or over time. Here's a look at some of the more common congenital heart defects.

http://www.mayoclinic.com/health/congenital-heart-defects/CC00026CHD 5:Pulmonary stenosisIn this condition, the flow of blood from the right ventricle to the pulmonary artery is obstructed by narrowing at the pulmonary valve. When there's an obstruction (stenosis), the right ventricle must pump harder to get blood into the pulmonary artery. The defect may occur along with other defects, such as thickening of the muscle of the right ventricle immediately below the valve.

In many cases, pulmonary stenosis is mild and doesn’t require treatment. But because it can cause heart failure, arrhytmias or enlargement of the right heart chambers, surgery may be necessary to repair the stenosis or replace the valve. Special balloons to widen the valve (balloon valvuloplasty) may also be used.

http://www.mayoclinic.com/health/congenital-heart-defects/CC00026&slide=5

Transposition of the great arteries

With this defect, the positions of the aorta and the pulmonary artery (the great arteries) are reversed (transposed). The aorta arises from the right ventricle instead of the left and the pulmonary artery arises from the left ventricle instead of the right. This creates a circulatory pattern that prevents nourishing oxygenated blood from reaching the body.

This condition would quickly be fatal to a newborn except it's generally accompanied by another defect — commonly a septal defect or patent ductus arteriosus — that does allow oxygen-rich blood to get to the body. Surgical repair is usually necessary shortly after birth.

By Mayo Clinic Staff Jun 7, 2005 © 1998-2006 Mayo Foundation for Medical Education and Research (MFMER). All rights reserved.  A single copy of these materials may be reprinted for noncommercial personal use only. "Mayo," "Mayo Clinic," "MayoClinic.com," "Mayo Clinic Health Information," "Reliable information for a healthier life" and the triple-shield Mayo logo are trademarks of Mayo Foundation for Medical Education and Research. 

CC00026

http://www.mayoclinic.com/health/congenital-heart-defects/CC00026&slide=8

Tetralogy of Fallot

This defect is a combination of four (tetralogy) congenital abnormalities. The four defects typically are ventricular septal defect (VSD), pulmonary stenosis, a misplaced aorta and a thickened right ventricular wall (right ventricular hypertrophy). They usually result in an insufficient amount of oxygenated blood reaching the body.

Complications of tetralogy of Fallot (fuh-LOE) include cyanosis — sometimes called "blue baby syndrome," since the lips, fingers and toes may have a bluish tinge from lack of oxygen — as well as poor eating, inability to tolerate exercise, arrhythmias, delayed growth and development, and stroke. Surgical repair of the defects is required early in life.

By Mayo Clinic Staff Jun 7, 2005 © 1998-2006 Mayo Foundation for Medical Education and Research (MFMER). All rights reserved.  A single copy of these materials may be reprinted for noncommercial personal use only. "Mayo," "Mayo Clinic," "MayoClinic.com," "Mayo Clinic Health Information," "Reliable information for a healthier life" and the triple-shield Mayo logo are trademarks of Mayo Foundation for Medical Education and Research. 

CC00026

http://www.mayoclinic.com/health/congenital-heart-defects/CC00026&slide=9

Hypoplastic left heart syndrome

In this condition, the left side of the heart is underdeveloped (hypoplastic), including the aorta, aortic valve, left ventricle and mitral valve. As a result, the body doesn't receive enough oxygenated blood. In the first few days after a baby is born, the ductus arteriosus remains open (patent), allowing normal circulation, so the baby may seem fine initially. But when the ductus arteriosus naturally closes, signs and symptoms begin, including a bluish cast to the skin from lack of oxygen, difficulty breathing and poor feeding. This condition may be accompanied by an atrial septal defect.

Treatment options for this life-threatening condition are a heart transplant or a multistage surgical procedure done during the first few years of life.

By Mayo Clinic Staff Jun 7, 2005 © 1998-2006 Mayo Foundation for Medical Education and Research (MFMER). All rights reserved.  A single copy of these materials may be reprinted for noncommercial personal use only. "Mayo," "Mayo Clinic," "MayoClinic.com," "Mayo Clinic Health Information," "Reliable information for a healthier life" and the triple-shield Mayo logo are trademarks of Mayo Foundation for Medical Education and Research. 

CC00026

http://www.mayoclinic.com/health/congenital-heart-defects/CC00026&slide=12

Truncus arteriosus

This is a defect in which the normally distinct pulmonary artery and aorta merge into one single great vessel (truncus) arising from the right and left ventricles. In addition, there's usually a large ventricular septal defect, essentially turning the right and left ventricles into a single chamber. This allows oxygenated and unoxygenated blood to mix. Too much blood may flow to the lungs, flooding them and making it difficult to breathe. It can also result in life-threatening pulmonary hypertension.

Surgery is needed to close the septal defect with a patch and to separate the pulmonary arteries from the trunk. A conduit is placed to connect the right ventricle to the pulmonary artery. Because the conduit doesn't grow with the child, repeat surgery may be necessary over time.

MORE ON THIS TOPIC

Congenital heart defects: When your baby's born with a heart malformation Aortic valve stenosis Heart arrhythmias Heart transplant: A treatment for end-stage heart failure Heart Disease Center

By Mayo Clinic Staff Jun 7, 2005 © 1998-2006 Mayo Foundation for Medical Education and Research (MFMER). All rights reserved.  A single copy of these materials may be reprinted for noncommercial personal use only. "Mayo," "Mayo Clinic," "MayoClinic.com," "Mayo Clinic Health Information," "Reliable information for a healthier life" and the triple-shield Mayo logo are trademarks of Mayo Foundation for Medical Education and Research. 

CC00026

http://www.mayoclinic.com/health/congenital-heart-defects/CC00026&slide=13

How the Heart Works

Your child’s heart is a muscle about the size of your child's fist. The heart works like a pump and beats about 100,000 times a day.

The heart has two sides, separated by an inner wall called the septum. The right side of the heart pumps blood to the lungs to pick up oxygen. Then, oxygen-rich blood returns from the lungs to the left side of the heart, and the left side pumps it to the body.

The heart has four chambers and four valves, and it is connected to various blood vessels. Veins are the blood vessels that carry blood from the body to the heart, while arteries are the vessels that carry blood away from the heart to the body.

Illustration: Healthy Heart Cross-Section

Heart Chambers

The heart has four chambers or "rooms"—two on the left side of the heart and two on the right.

The atria (AY-tree-uh) are the two upper chambers that collect blood as it comes into the heart.

The ventricles are the two lower chambers that pump blood out of the heart to the lungs or other parts of the body.

Heart Valves

Four valves control the flow of blood from the atria to the ventricles and from the ventricles into the two large arteries connected to the heart.

The four valves are:

The tricuspid (tri-CUSS-pid) valve is in the right side of the heart, between the right atrium and the right ventricle.

The pulmonary valve is in the right side of the heart, between the right ventricle and the entrance to the pulmonary artery that

carries blood to the lungs.

The mitral (MI-trul) valve is in the left side of the heart, between the left atrium and the left ventricle.

The aortic (ay-OR-tik) valve is in the left side of the heart, between the left ventricle and the entrance to the aorta, the artery

that carries blood to the body.

Valves are like doors that open and close. They open to allow blood to flow through to the next chamber or to one of the arteries, and then they shut to keep blood from flowing backwards.

When your heart's valves open and close, they make the familiar "lub-DUB" or "lub-DUPP" sounds that your doctor can hear by using a stethoscope.

The first sound is made by the tricuspid and mitral valves closing at the beginning of systole (SIS-toe-lee). Systole is when the

heart contracts, or squeezes, and pumps blood out of the heart.

The second sound is made by the aortic and pulmonary valves closing at the beginning of diastole (di-AS-toe-lee). Diastole is

when the heart relaxes and fills with blood.

Arteries

The arteries are the major blood vessels connected to your heart.

The pulmonary artery carries blood pumped from the right side of the heart to the lungs to pick up a fresh supply of oxygen.

The aorta is the main artery that carries oxygen-rich blood pumped from the left side of the heart out to the body.

The coronary arteries are the other important arteries attached to the heart. They carry oxygen-rich blood to the heart muscle,

which must have its own blood supply to function.

Veins

The veins are major blood vessels connected to your heart.

The pulmonary veins carry oxygen-rich blood from the lungs to the left side of the heart so the blood can be pumped out to the

body.

The vena cava is a large vein that carries oxygen-poor blood from the body back to the heart.

The Heart With Tetralogy of Fallot

In tetralogy of Fallot, there are four specific defects in the heart.

Pulmonary valve stenosis is a narrowing of the pulmonary valve and the area below the valve. This narrowing slows

the flow of blood from the right side of the heart to the lungs. The heart must pump harder to push blood through the smaller

opening to the lungs where the blood picks up oxygen.

Ventricular septal defect (VSD) is a hole in the wall that separates the lower chambers (ventricles) of the heart.

Overriding aorta is a defect in the position of the large artery (aorta) that takes oxygen-rich blood to the body. In a normal

heart, the aorta attaches to the left lower chamber of the heart (ventricle). In tetralogy of Fallot, the aorta sits between the left

and right ventricles, over the VSD. This causes mixing of oxygen-rich blood and oxygen-poor blood.

Right ventricular hypertrophy is the thickening of the right lower chamber of the heart (ventricle). Unlike other muscles in your

body, when the heart thickens, it does not work well. The heart has to pump harder to move blood through the narrowed

pulmonary valve and the area below it.

http://www.nhlbi.nih.gov/health/dci/Diseases/tof/tof_heartworks.html