PENYAKIT JANTUNG BAWAAN

Prof. dr. Asnil Sahim, Sp.JP (K)

Pusat Jantung Regional RS M Djamil Padang

Tujuan pembelajaran

Umum : mampu mengidentifikasi /

mengelola PJB dengan pendekatan dokter keluarga

Khusus : mampu menjelaskan

Epidemiologi Etiologi / faktor risiko Patofisiologi Pemeriksaan penunjang Prinsip diagnosis / Diagnosis banding Penatalaksanaan / rujukan Komplikasi / prognosis
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Acyanotic defects of CHD

Cyanotic defects of CHD

Epidemiologi PJB 0,8-1% dari bayi lahir hidup 75% merupakan PJB non-sianotik PJB non-sianotik VSD : 20% dari semua PJB PDA : 7% dari semua PJB ASD : 8% dari semua PJB

Cont

PJB 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 risiko

Sebagian besar kasus tidak diketahui Obat-obatan Penyakit ibu Pajanan sinar X Genetik / sindrom tertentu Multifaktorial

Etiologi ???
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Chromosomal aberrations
Trisomy 13 syndrome (Pataus syndrome) : 25% CHD : VSD, PDA, ASD Trisomy 18 ( Edwards syndrome) : 90% CHD : VSD, PDA, dextrocardia Trisomy 21 ( Down syndrome) : 50% CHD : ECD , VSD Turners syndrome (XO) : 35% CHD : CoA, AS, ASD Klinefelters variant (XXXXY) : 15% CHD : PDA , ASD

Hemodinamik PJB

Kelebihan beban volume Obstruksi aliran ke ventrikel Obstruksi aliran keluar ventrikel Gangguan kontraksi dan relaksasi ventrikel

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Fetal Circulation

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Beban volume berlebihan

Shunt dari kiri-kanan

Beban volume di ventrikel Sirkulasi berlebihan ke pulmonal Penyempitan arteriole paru Peningkatan tahanan aliran darah paru

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Cont

Shunt kiri-kanan :
Tingkat atrium
DSA tipe sinus venosus / PAPVD

Tingkat ventrikel : VSD Tingkat pb darah besar

PDA Trunkus arteriosus AP window

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Atrial septal defect

Lungs
PA

LA

LV

AO Systemic RV RA

Qp > Qs
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Ventricular Septal defect

Lungs
PA

LA

LV

AO

RV

RA

Systemic

Qp > Qs
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Cont.

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

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Cont
Lesi Campuran Klinis : - sianosis - gagal jantung kongestif - corakan pembuluh darah paru meningkat Jenis kelainan : TGA Trunkus arteriosus Anomali total muara VP
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Lesi Obstruktif
Lesi obstruktif dengan defek ki-ka Lesi obstruktif tanpa defek shunts tergantung beratnya defek

Contoh : obs aliran masuk ventrikel

Stenosis mitral / trikuspidal Cor triatrium Anomali Ebstein
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Cont.

Obstruksi saluran keluar ventrikel :

Stenosis aorta / pulmonal Hipertensi sistemik / pulmonal Koarktasio Ao/P

Gangguan kontraksi ventrikel

Kardiomiopati

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Tetralogy of Fallot

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Pathology of TOF
Leftward deviation malalignment of ventricular septal defect + aortic overriding Anterior deviation pulmonary stenosis right ventricle outflow tract obstruction right ventricular hypertrophy

Bove EL, Lupinetti FM. Tetralogy of Fallot. Pediatric cardiac surgery. 1994.

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Pathology of TOF
VSD in TOF is a perimembranous defect RV outflow tract obst is most frequenly infundibular stenosis The PA branches are usually small Right aortic arch is present in 25% of cases In about 5% abnormal coronary arteries are present
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Manifestasi klinis
Tergantung jenis PJB Sianotik / non-sianotik Gangguan tumbuh kembang ISPA berulang Cepat lelah Sesak Gagal jantung
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Clinical Manifestation of TOF

Cyanotic of the skin and mucous membranes ToF desaturation of arterial blood increased concentration of reduced hemoglobin > 5g/dL in circulation Clinical 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.24 Park MK. Cyanotic congenital heart defects. Pediatric cardiology for practitioners. 2002.

Clinical Manifestation

Newborn infant in whom the ductus arteriosus is the sole source of pulmonary blood flow increasingly cyanotic as the DA closes Severe 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. 25 Park MK. Cyanotic congenital heart defects. Pediatric cardiology for practitioners. 2002.

Pemeriksaan penunjang
Hematology / AGD Foto toraks Elektrokardiografi ( EKG ) Ekokardiografi Kateterisasi

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PA and Lateral chest x-ray

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Ventricular Septal Defect

Cardiomegaly Apex down ward Prominence pulmonary artery segment Increased pulmonary vascular marking
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Tetralogy Fallot

CXR : Boot-shaped Concave pulmonary segment Apex upturned Decreased pulmonary blood flow

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Chest x-ray of TOF

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Normal ECG

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Your attention

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Kuliah pengantar II
PJB Diagnosis Tatalaksana Prognosis / komplikasi

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Diagnosis Tahapan diagnosis PJB :

Evaluasi klinis : riwayat penyakit / anamnesis dan pemeriksaan fisik Pemeriksaan penunjang sederhana : EKG , foto toraks, darah tepi Ekokardiografi : M-mode , 2-dimensi, doppler (color flow mapping) Kateterisasi jantung : hemodinamik dan angiografi

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Cont

Foto toraks :
Kardiomegali ( LVH / RVH ) Vaskularisasi paru Cardiac silhouette

EKG :
Posisi jantung Hipertrofi / Dilatasi dll

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Tetralogy Fallot

Diagnosis

Clinically :
Most patient are symptomatic with cyanosis at birth or shortly thereafter dyspnea on exertion, squatting, or hypoxic spells develop later

Single 2nd HS, ejection systolic murmur

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Hypoxic Spell
Hypoxic spells may develop

before total repair

Increasing cyanosis Decreasing intensity of the heart murmur Hyperpnoea (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. 37

Atrial septal Defect

Clinical findings Asymptomatic A relatively slender body build is typical Auscultation : Normal 1st HS or loud Widely split and fixed 2nd HS Ejection systolic murmur

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Atrial Septal Defect

Auscultation :1st HS N or loud widely split and fixed 2nd HS Ejection Sistolic Murmur
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Atrial Septal Defect

Sinus venosus defect

Primum ASD

Secundum ASD

Diagram of ASD
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Atrial Septal Defect Chest X-Ray

Right atrial enlargement Prominence the MPA segment Increased pulmonary vascular marking
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Ventricular Septal Defect

Clinical findings Day 1st after birth: murmur (-) After 2-6 weeks : murmur (+) Murmur : pansystolic grade 3/6 or higher at LSB 3 Small muscular defect: early systolic murmur Significant defect: Mid diastolic murmur at apex

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Ventricular Septal Defect

Murmur: pansystolic grade 3/6 or higher at LSB 3

Small VSD

Large VSD

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Ventricular septal Defect

Diagnosis Differential PDA with PH Tetralogy Fallot non cyanotic Inoscent murmur

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Patent Ductus Arteriosus

Clinical findings
Small defect: Symptom (-) Growth and development normal Significant defect: Decreased exercise tolerant Weigh gained not good Specific case: pulsus seler at 4th extremities and continuous murmur

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Patent Ductus Arteriosus

Auscultation : continuosus murmur at upper LSB 2

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Patent Ductus Arteriosus

Diagnosis Differential
AP-window Arterio-venous fistulae

Management
premature : indomethacin PDA closure : surgery transcatheter closure

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Indomethacin
Hari I : 0,2 mg/kgbb/hari Hari II VII : 0,1 mg/kgbb/hari
evaluasi dengan ekokardiografi efektif pada bayi prematur

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Tatalaksana Tergantung jenis kelainan PJB Medikamentosa

Mengurangi preload / afterload Inotropik Mengurangi serangan hipoksia : propranolol Penutupan duktus : indometasin / ibuprofen Mempertahankan duktus : prostaglandin E1
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Cont.

Intervensi
Bedah :
paliatif : BT-shunts , PA Banding Korektif : Biventrikular repair, one and half vent repair, dll

Non-Bedah
Amplatzer Ballon dll

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DSV

Heart failure (+)

Anti failure

Heart failure (-)

Aortic valve prolaps

Fail Success PAB Evaluate in 6 mths

Infundibular stenosis

PH Spontaneous closure PVD(+)

Smaller

PVD(-) Cath

Cath

Cath
Reactive

FR<1.5 FR>1.5

Nonreactive Conservative

Surgical closure/Transcatheter closure

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ASD
Small Shunt
Infants Observation Evaluation At age 5-8 yrs Cath Heart Failure (-) Large Shunt Children/Adults

PH (-) Heart Failure (+) PVD (-) Anti failure

Fail

PH (+)
PVD (+) Hyperoxia

Success

FR<1.5

FR>1.5

Age >1yrs W >10kg

Surgical Closure

Reactive

Non reactive

Conservative

Transcatheter closure (Secundum ASD) / Surgical Closure(others)

Conservative
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PDA
Neonates/Infants Heart failure (+) Premature Anti failure Indometacin Success Heart failure (-) Full term Anti failure Fail Success Children/Adults PH (-) LR PH (+) RL

Hyperoxia
Non reactive

Fail

Reactive
Age >12wks W >4kg

Spontaneous closure

Surgical ligation

Transcatheter closure

Conservative
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Color Doppler Techniques & Evaluation

Normal color flow image

4-chamber

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Ventricle septal defect

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Kateterisasi PDA

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Kateterisasi ToF-PA

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Complications / prognosis
Blok jantung / RBBB Residual shunts Bacterial endocarditis Pulmonary hypertension bleeding problems / polycythemic Delayed growth and development Congestive Heart Failure

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Non-surgical closure using the amplatzer

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Intervensi non-bedah

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Palliative surgery

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Bedah paliatif

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Total correction of TF

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Rujukan :
Moss and Adams. Heart Diseases in Infant, Children, and Adolescents. Edisi-VII, Lippincot, 2008 Peter Koenig dkk, Essential Pediatric Cardiology. New York, 2004 Myung K Park, The Pediatric Cardiology for Practisioner, St Louis, 2003 John F Keane. Nadas Pediatric Cardiology. Philadelphia, Saunders. 2006

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Your attention

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