PENYAKIT JANTUNG BAWAANPENYAKIT JANTUNG BAWAAN

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

Pusat Jantung Regional RS M Djamil Padang

22

Tujuan pembelajaranTujuan 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

• 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

33

Acyanotic defects of CHDAcyanotic defects of CHD

44

Cyanotic defects of CHDCyanotic defects of CHD

55

EpidemiologiEpidemiologi

• 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

• 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

66

Cont…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%

• 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%

77

Etiologi / Faktor risikoEtiologi / Faktor risiko

• Sebagian besar kasus tidak diketahui

• Obat-obatan• Penyakit ibu• Pajanan sinar X• Genetik / sindrom tertentu• Multifaktorial

• Sebagian besar kasus tidak diketahui

• Obat-obatan• Penyakit ibu• Pajanan sinar X• Genetik / sindrom tertentu• Multifaktorial

Etiologi ???

88

Chromosomal aberrationsChromosomal aberrations

• Trisomy 13 syndrome (Patau’s syndrome) : 25% CHD : VSD, PDA, ASD• Trisomy 18 ( Edward’s syndrome) : 90% CHD : VSD, PDA,

dextrocardia• Trisomy 21 ( Down syndrome) : 50% CHD : ECD , VSD• Turner’s syndrome (XO) : 35% CHD : CoA, AS, ASD• Klinefelter’s variant (XXXXY) : 15% CHD : PDA , ASD

• Trisomy 13 syndrome (Patau’s syndrome) : 25% CHD : VSD, PDA, ASD• Trisomy 18 ( Edward’s syndrome) : 90% CHD : VSD, PDA,

dextrocardia• Trisomy 21 ( Down syndrome) : 50% CHD : ECD , VSD• Turner’s syndrome (XO) : 35% CHD : CoA, AS, ASD• Klinefelter’s variant (XXXXY) : 15% CHD : PDA , ASD

99

Hemodinamik PJBHemodinamik PJB

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

relaksasi ventrikel

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

relaksasi ventrikel

1010

1111

Fetal CirculationFetal Circulation

1212

Beban volume berlebihanBeban volume berlebihan

• Shunt dari kiri-kanan– Beban volume di ventrikel– Sirkulasi berlebihan ke pulmonal– Penyempitan arteriole paru– Peningkatan tahanan aliran darah

paru

• Shunt dari kiri-kanan– Beban volume di ventrikel– Sirkulasi berlebihan ke pulmonal– Penyempitan arteriole paru– Peningkatan tahanan aliran darah

paru

1313

Cont ……Cont ……

• Shunt kiri-kanan :– Tingkat atrium

• DSA tipe sinus venosus / PAPVD– Tingkat ventrikel : VSD– Tingkat pb darah besar

• PDA• Trunkus arteriosus• AP window

• Shunt kiri-kanan :– Tingkat atrium

• DSA tipe sinus venosus / PAPVD– Tingkat ventrikel : VSD– Tingkat pb darah besar

• PDA• Trunkus arteriosus• AP window

1414

LA LV

RV RA

PA AO

Systemic

Lungs

Qp > Qs

Atrial septal defect

1515

LA LV

RV RA

PA AO

Systemic

Lungs

Qp > Qs

Ventricular Septal defect

1616

Cont….Cont….

• Shunt kanan-kiri : jika tahanan arteriole paru

> tahanan sirkulasi sistemik sianosis ( Eisenmenger sindrome )

• Shunt kanan-kiri : jika tahanan arteriole paru

> tahanan sirkulasi sistemik sianosis ( Eisenmenger sindrome )

1717

Cont…Cont…

• Lesi CampuranKlinis :

- sianosis- gagal jantung kongestif- corakan pembuluh darah paru meningkat

Jenis kelainan : TGA Trunkus arteriosus Anomali total muara VP

• Lesi CampuranKlinis :

- sianosis- gagal jantung kongestif- corakan pembuluh darah paru meningkat

Jenis kelainan : TGA Trunkus arteriosus Anomali total muara VP

1818

Lesi ObstruktifLesi 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

• 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

1919

Cont….Cont….

• Obstruksi saluran keluar ventrikel :– Stenosis aorta / pulmonal– Hipertensi sistemik / pulmonal– Koarktasio Ao/P

• Gangguan kontraksi ventrikel– Kardiomiopati

• Obstruksi saluran keluar ventrikel :– Stenosis aorta / pulmonal– Hipertensi sistemik / pulmonal– Koarktasio Ao/P

• Gangguan kontraksi ventrikel– Kardiomiopati

2020

Tetralogy of FallotTetralogy of Fallot

2121

Pathology of TOFPathology of TOF

Leftward 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.

2222

Pathology of TOFPathology 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

• 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

2323

Manifestasi klinisManifestasi klinis

• Tergantung jenis PJB • Sianotik / non-sianotik• Gangguan tumbuh kembang• ISPA berulang• Cepat lelah• Sesak• Gagal jantung

• Tergantung jenis PJB • Sianotik / non-sianotik• Gangguan tumbuh kembang• ISPA berulang• Cepat lelah• Sesak• Gagal jantung

2424

Clinical Manifestation of TOF 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

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.

Park MK. Cyanotic congenital heart defects. Pediatric cardiology for practitioners. 2002.

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…Clinical Manifestation…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

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.

Park MK. Cyanotic congenital heart defects. Pediatric cardiology for practitioners. 2002.

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Pemeriksaan penunjangPemeriksaan penunjang

• Hematology / AGD• Foto toraks• Elektrokardiografi ( EKG )• Ekokardiografi• Kateterisasi

• Hematology / AGD• Foto toraks• Elektrokardiografi ( EKG )• Ekokardiografi• Kateterisasi

2727

PA and Lateral chest x-rayPA and Lateral chest x-ray

2828

Ventricular Septal Defect

CardiomegalyApex down wardProminence pulmonary artery segmentIncreased pulmonary vascularmarking

2929

CXR : Boot-shapedConcave pulmonary

segmentApex upturnedDecreased pulmonary

blood flow

CXR : Boot-shapedConcave pulmonary

segmentApex upturnedDecreased pulmonary

blood flow

Tetralogy FallotTetralogy Fallot

3030

Chest x-ray of TOFChest x-ray of TOF

3131

Normal ECGNormal ECG

3232

Your attention

Continued..

..

3333

Kuliah pengantar IIKuliah pengantar II

PJB• Diagnosis• Tatalaksana• Prognosis / komplikasi

PJB• Diagnosis• Tatalaksana• Prognosis / komplikasi

3434

Diagnosis 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

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

3535

Cont…Cont…

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

• EKG :– Posisi jantung– Hipertrofi / Dilatasi– dll

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

• EKG :– Posisi jantung– Hipertrofi / Dilatasi– dll

3636

Tetralogy FallotTetralogy 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

• 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

3737

Hypoxic Spell 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

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.

3838

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

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

Atrial septal DefectAtrial septal Defect

3939

Atrial Septal Defect

Auscultation :1st HS N or loud

widely split and fixed 2nd HS

Ejection Sistolic Murmur

4040

Atrial Septal Defect

Diagram of ASD

Sinus venosus defect

Secundum ASD

Primum ASD

4141

Right atrial enlargementProminence the MPA segmentIncreased pulmonary vascular marking

Atrial Septal DefectChest X-Ray

4242

Ventricular Septal DefectVentricular 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

• 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

4343

Small VSD

Large VSD

Ventricular Septal Defect

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

4444

Ventricular septal DefectVentricular septal Defect

Diagnosis Differential

PDA with PH Tetralogy Fallot non cyanotic Inoscent murmur

Diagnosis Differential

PDA with PH Tetralogy Fallot non cyanotic Inoscent murmur

4545

Patent Ductus ArteriosusPatent Ductus Arteriosus

• Clinical findings

Small defect: Symptom (-) Growth and development normal

Significant defect:Decreased exercise tolerantWeigh gained not good

Specific case: pulsus seler at 4th extremities and continuous murmur

• Clinical findings

Small defect: Symptom (-) Growth and development normal

Significant defect:Decreased exercise tolerantWeigh gained not good

Specific case: pulsus seler at 4th extremities and continuous murmur

4646

Patent Ductus Arteriosus

Auscultation : continuosus murmur at upper LSB 2

4747

Diagnosis DifferentialAP-window

Arterio-venous fistulae

Management premature : indomethacin

PDA closure : surgery

transcatheter closure

Diagnosis DifferentialAP-window

Arterio-venous fistulae

Management premature : indomethacin

PDA closure : surgery

transcatheter closure

Patent Ductus ArteriosusPatent Ductus Arteriosus

4848

Indomethacin Indomethacin

• Hari I : 0,2 mg/kgbb/hari• Hari II – VII : 0,1 mg/kgbb/hari

– evaluasi dengan ekokardiografi– efektif pada bayi prematur

• Hari I : 0,2 mg/kgbb/hari• Hari II – VII : 0,1 mg/kgbb/hari

– evaluasi dengan ekokardiografi– efektif pada bayi prematur

4949

Tatalaksana Tatalaksana

• Tergantung jenis kelainan PJB• Medikamentosa

– Mengurangi preload / afterload– Inotropik– Mengurangi serangan hipoksia :

propranolol– Penutupan duktus : indometasin /

ibuprofen– Mempertahankan duktus :

prostaglandin E1

• Tergantung jenis kelainan PJB• Medikamentosa

– Mengurangi preload / afterload– Inotropik– Mengurangi serangan hipoksia :

propranolol– Penutupan duktus : indometasin /

ibuprofen– Mempertahankan duktus :

prostaglandin E1

5050

Cont….Cont….

• Intervensi– Bedah :

• paliatif : BT-shunts , PA Banding

• Korektif : Biventrikular repair, one and half vent repair, dll

– Non-Bedah• Amplatzer• Ballon• dll

• Intervensi– Bedah :

• paliatif : BT-shunts , PA Banding

• Korektif : Biventrikular repair, one and half vent repair, dll

– Non-Bedah• Amplatzer• Ballon• dll

5151

DSV

Heart failure (+) Heart failure (-)

Anti failure

Fail Success

PAB

Evaluate in 6 mths

Surgical closure/Transcatheter closure

Aortic valve prolaps

Infundibular stenosis

PH SmallerSpontaneousclosure

Cath

PVD(-) PVD(+) Cath

Cath

Reactive Non-reactive

Conservative

FR>1.5FR<1.5

5252

ASD

Small Shunt Large Shunt

Observation

EvaluationAt age 5-8 yrs

Cath

FR<1.5 FR>1.5

Conservative

Infants Children/Adults

Heart Failure (-)

Heart Failure (+)

Age >1yrsW >10kg

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

Conservative

Anti failure

FailSuccess

PH (-) PH (+)

PVD (-)

PVD (+)

Hyperoxia

Reac-tive

Nonreactive

SurgicalClosure

5353

PDA

Neonates/Infants Children/Adults

Heart failure (+) Heart failure (-)

Premature Full term

Anti failureIndometacin

Success Fail

Spontaneous closure

Anti failure

SuccessFail

Surgical ligation

Transcatheter closure

PH (-) PH (+)

LR RL

Hyperoxia

Reactive Nonreactive

Conservative

Age >12wksW >4kg

5454

Normal color flow image

4-chamber

Color Doppler Techniques & Evaluation

5555

Ventricle septal defect

5656

Kateterisasi PDAKateterisasi PDA

5757

Kateterisasi ToF-PAKateterisasi ToF-PA

5858

Complications / prognosis Complications / prognosis

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

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

5959

Non-surgical closure using the amplatzer

6060

Intervensi non-bedahIntervensi non-bedah

6161

Palliative surgeryPalliative surgery

6262

Bedah paliatif

6363

Total correction of TF

6464

Rujukan :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

• 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