PENYAKIT JANTUNG BAWAAN SIANOTIK

*Tujuan pembelajaranUmum : mampu mengidentifikasi / mengelola PJB dengan pendekatan dokter keluarga

Khusus : mampu menjelaskan EpidemiologiEtiologi / faktor risikoPatofisiologiPemeriksaan penunjangPrinsip diagnosis / Diagnosis bandingPenatalaksanaan / rujukanKomplikasi / prognosis

Penyakit Jantung Bawaan Biru ( Sianotik )*- Identifikasi : sianosis- Terdapat pirau dari kanan - kiri - Terdapat transposisi pembuluh darah besar- Terdapat mixingSianosis adalah : warna kebiruan pada mukosa yang terjadi akibat terdapatnya Hb tereduksi > 5 gr/dl dalam sirkulasi

*Cyanotic defects of CHD

*ContPJB sianotik (25%)TGA (transposition of Great Arteries) : 5% dari seluruh PJB. ( Lk : Pr = 3:1 )TOF (tetralogy of Fallot) : 10% ( PJB sianotik terbanyak)Lain-lain ( Total anomalous PV return, Tricuspid atresia, Pulmonal atresia, dll ) berkisar 1-3%

*Etiologi / Faktor risikoSebagian besar kasus tidak diketahuiObat-obatanPenyakit ibuPajanan sinar XGenetik / sindrom tertentuMultifaktorial

Etiologi ???

*Chromosomal aberrationsTrisomy 13 syndrome (Pataus syndrome) : 25% CHD : VSD, PDA, ASDTrisomy 18 ( Edwards syndrome) : 90% CHD : VSD, PDA, dextrocardiaTrisomy 21 ( Down syndrome) : 50% CHD : ECD , VSDTurners syndrome (XO): 35% CHD : CoA, AS, ASDKlinefelters variant (XXXXY): 15% CHD: PDA , ASDDiGeorge syndrome: IAA , Truncus arteriosus, TOF , dllAlagilles syndrome: peripheral PA stenosis

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*Fetal Circulation

*Hemodinamik PJB SianotikPirau kanan - kiriCommon mixing aliran darah balik sistemik dan pulmonal di tingkat atrium, ventrikel, pembuluh darahTransposisi pembuluh darah besar

*Cont.Shunt kanan-kiri : jika tahanan arteriole paru > tahanan sirkulasi sistemik sianosis ( Eisenmenger sindrome )

*ContLesi CampuranKlinis :- sianosis- gagal jantung kongestif- corakan pembuluh darah paru meningkat Jenis kelainan : TGA Trunkus arteriosus Anomali total muara VP

*Tetralogy of Fallot

*Pathology of TOFLeftward deviation malalignment of ventricular septal defect + aortic overridingAnterior deviation pulmonary stenosis right ventricle outflow tract obstruction right ventricular hypertrophy Bove EL, Lupinetti FM. Tetralogy of Fallot. Pediatric cardiac surgery. 1994.

*Pathology of TOFVSD in TOF is a perimembranous defectRV outflow tract obst is most frequenly infundibular stenosisThe PA branches are usually smallRight aortic arch is present in 25% of casesIn about 5% abnormal coronary arteries are present

*Clinical Manifestation of TOF Cyanotic of the skin and mucous membranesToF desaturation of arterial blood increased concentration of reduced hemoglobin > 5g/dL in circulationClinical manifestation depends on the source and volume of pulmonary blood flow ductus arteriosus and or aortopulmonary collaterals Park MK. Pathophysiology of cyanotic congenital heart defects. Pediatric cardiology for practitioners. 2002. Kulkarni A, Pettersen M. Tetralogy of Fallot with pulmonary atresia. www.emedicine.com. Park MK. Cyanotic congenital heart defects. Pediatric cardiology for practitioners. 2002.

*Clinical ManifestationNewborn infant in whom the ductus arteriosus is the sole source of pulmonary blood flow increasingly cyanotic as the DA closesSevere pulmonary stenosis or pulmonary atresia cyanotic at birth or soon after birth ToF with severe PS or pulmonary atresia duct-dependent congenital heart defect Park MK. Pathophysiology of cyanotic congenital heart defects. Pediatric cardiology for practitioners. 2002. Kulkarni A, Pettersen M. Tetralogy of Fallot with pulmonary atresia. www.emedicine.com. Park MK. Cyanotic congenital heart defects. Pediatric cardiology for practitioners. 2002.

*Dyspnea on exertionSquattingHypoxic spellsFailure to thrive

*Pemeriksaan penunjangHematology / AGDFoto toraksElektrokardiografi ( EKG )EkokardiografiKateterisasi

*PA and Lateral chest x-ray

*CXR : Boot-shapedConcave pulmonary segmentApex upturnedDecreased pulmonary blood flowTetralogy Fallot

*Normal ECG

*Normal color flow image4-chamber

Color Doppler Techniques & Evaluation

*Echocardiography

*Kateterisasi ToF-PA

Transposition of Great ArteryInsidence5% of CHDAnatomyAbnormality of formation of trunkal septum that cause aorta arising from RV and PA arising from LV

Transposition of Great artery

Hemodynamic normalHemodynamic of TGAseriesparallelTransposition of Great artery

Clinical aspects

More frequent in maleBirth weight usually normal normal or biggerCyanotic vary from mild to severeAuscultation : single 2nd HS and loudMurmur vary from silent to pansystolic murmur or continuous murmurTransposition of Great artery

DiagnosisClinically : Suspicious if neonates presents with cyanotic with birth weight normal or biggerMurmur (-)Single 2nd HS and loudTransposition of Great artery

Murmur (-)Single 2nd HS and loud

Transposition of Great artery

Transposition of Great arteryCXR :CardiomegalyEgg-on-side heartIncreased pulmonary vascular marking

Transposition of Great arteryECG :RADRVHEchocardiography : to confirm diagnosisCardiac catheterization: usually is not needed

Diagnosis Differential

trunkus arteriosus trikuspid atresia pulmonary atresia

Management

Surgery: arterial switchPaliative : Blalock-Taussig shuntTransposition of Great artery

Transposition of Great ArteryPGE1VSD(-)VSD(+) 1mth> 1mthCathLV2/3 systLV3 mths3 mthsCathPARI

Transposition of Great artery

*Cont.IntervensiBedah : paliatif : BT-shunts , PA BandingKorektif : Biventrikular repair, one and half vent repair, dllNon-BedahAmplatzerBallondll

*Palliative surgery

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Bedah paliatif

*Complications Blok jantung / RBBBResidual shunts Bacterial endocarditisPulmonary hypertensionbleeding problems / polycythemicDelayed growth and developmentCongestive Heart Failure

*Hypoxic Spell Hypoxic spells may develop before total repairIncreasing cyanosisDecreasing intensity of the heart murmurHyperpnoea (rapid and deep)Severe spell convulsion, cerebrovascular accident death

Park MK. Pathophysiology of cyanotic congenital heart defects. Pediatric cardiology for practitioners. 2002. Bove EL, Lupinetti FM. Tetralogy of Fallot. Pediatric cardiac surgery. 1994.

Prognosis Tergantung Derajat / kompleksitas penyakitTingkat kesulitan opeasiUsia saat koreksi

*Total correction of TF

***************Disease causes mortality rate 2.5 %, where most cases occurred to children and infant

Ther is no gender preference for this disease*In indonesia, DHF firstly reported from Jakarta & surabayaIn CM hospital, from 2004-2005 , there were 398 cases,where 5 of them were reported as infants cases

In this case: both patientss age was < 1 yo and they lived in DHF endemic area************As to pathogenesis, there are several theories available of which two are well known *