Penyakit Jantung Bawaan - I

Penyakit Jantung Bawaan (PJB)

 Kelainan kongenital terbanyak

(1/3 dari total penyakit bawaan)
 16% bayi prematur menderita PJB
(PJB pada prematur 2 X bayi cukup bulan)
 30% menunjukkan gejala kilinis pada hari
pertama - minggu pertama lahir
 kelainan bawaan mayor (25% adalah PJB berat)
 7% kematian neonatal

Lancet 2005;365:891-900
REQUIREMENTS FOR MANAGING CHD
UNDERSTANDING OF :
 Pathophysiology of the diseases
 The Clinical symptoms & signs of the
disease
 Natural history of the diseases
 Initial treatment (incl.emergency case)
 WHEN, WHERE and HOW to refer
The Role of Primary Physicians in
managing CHD in Children
 Early detection
 Initial treatment (if needed)
 Decision when to be referred.
 Follow up after intervention
(surgery OR catheter intervention)
Penyakit Jantung Bawaan (PJB)

Distribusi PJB berdasarkan umur saat diagnosis

• 0-6 hari: Transposition of Great Artery (19%)

Hypoplastic Left Heart Syndrome (14%)
Tetralogy of Fallot (8%)
Coarctation of the Aorta (7%)
Ventricular Septal Defect (3%)
Penyakit Jantung Bawaan (PJB)

Distribusi PJB berdasarkan umur saat diagnosis

• 7-13 hari: Coarctation of the Aorta (16%)

Ventricular Septal Defect (14%)
Hypoplastic Left Heart Syndrome (8%)
Transposition of Great Artery (7%)
Tetralogy of Falllot (7%)
Penyakit Jantung Bawaan (PJB)

Distribusi PJB berdasarkan umur saat diagnosis

• 14-28 hari: Ventricular Septal Defect (16%)

Coarctation of the Aorta (12%)
Tetralogy of Fallot (7%)
Transposition of Great Arteries (7%)
Patent Ductus Arteriosus (5%)
Penyakit Jantung Bawaan (PJB)

• Angka kejadian: 8-10 tiap 1000 kelahiran

hidup (1 tiap 100 kelahiran)
• Indonesia: 50.000 kasus/ tahun
• 30% PJB dikatakan normal saat pulang
Penyakit Jantung Bawaan (PJB)

• No murmur does not exclude CHD

• The presence of murmur does not mean that
there is CHD
PJB pada Bayi

• PF rutin gagal mendeteksi:

> 50% PJB pada neonatus
> 1/3 PJB pada usia 6 minggu
• Pemeriksaan normal tidak menyingkirkan PJB
• Bayi dengan bising jantung saat lahir atau usia 6
minggu  rujuk untuk evaluasi jantung
• Bayi dengan sindrom Down prevalens PJB tinggi

Arch Dis Child Fetal Neonatal 1999;80:F49-F53

Perbedaan Sirkulasi Janin dan Neonatus
Perbedaan Sirkulasi Janin dan Neonatus
• 4 shunts in fetal circulation :
- placenta
- ductus venosus
- foramen ovale
- ductus arteriosus
• Placent receives largest amount
of combined R and L ventricular
output (55%),has lowest vascular
resistance in fetus
• Blood is oxygenated in the
placenta
• SVC – 15% of combined
ventricular output
• IVC – 70%
 Combined ventricular output
RV is
larger
– 55%

RV
pressur
e = LV
pressur
e

LV –
45%
 Changes in Circulation after Birth

• Primary change :
a shift of blood flow for gas exchange from the
placenta to the lungs.
Changes in Circulation after Birth

●
↑ in systemic vascular resistance
Removal of ●
Cessation of blood flow in UV
resulting in closure of the ductus
placenta venosus  ↓ RAP

●
↓ PVR, ↑ PBF and fall in PA pressure
Lung ●
↑ PBF & ↑ pulmonary venous return  ↑
LAP > RAP  Functional closure of foramen
expansion ovale
●
↑ arterial oxygen saturation  closure of PDA
Changes in PA pressure, PBF and PVR
Pulmonary Vascular Resistance

●
Direct transmission of LV pressure to PA through
the defect  delay fall in PVR  high PA pressure
Large VSD
 CHF doesn’t develop until 6 or 8 weeks of age or
older

Small VSD
●
No direct transmission of the LV
pressure to PA  PVR falls normally
 Closure of The Ductus Arteriosus
• Functional closure of DA : within 10-15 hours after birth
by constriction of the medial smooth muscle in the
ductus

• Anatomic closure is completed by 2 to 3 weeks of age by

permanent changes in the endothelium and subintimal
layers of the ductus

• Oxygen, prostaglandin E2 (PGE2) levels and maturity of

the newborn are important factors in closure of the
ductus
Klasifikasi PJB

• Asianosis/Tidak Biru/Non-Kompleks/Isolated

– Aliran darah paru normal

• Pulmonary Stenosis (PS)
• Aortic Stenosis (AS)
• Coarctation of the Aorta (CoA)

– Aliran darah paru meningkat

• Patent Ductus Arteriosus (PDA)
• Atrial Septal Defect (ASD)
• Ventricular Septal Defect (VSD)
Klasifikasi PJB
• Sianosis/Biru/Kompleks
– Aliran darah paru normal
• TGA tanpa PS
– Aliran darah paru meningkat
• TGA dengan VSD
• Truncus arteriosus
• Total anomaly pulmonary vein drainage
– Aliran darah paru berkurang
• ToF
• Pulmonary atresia
• Ticuspid atresia
PJB Kritis pada Neonatus

• PJB kompleks  aliran darah ke paru/ sistemik

tergantung PDA
– Duct dependent pulmonary circulation
• Atresia pulmonalis
– Duct dependent systemic circulation
• Hypoplastic left heart syndrom
– Duct dependent mixing circulation
• Transposition of great artery
 PJB Kritis

Sirkulasi Paru Tergantung Sirkulasi Sistemik Tergantung Sirkulasi MixingTergantung

Duktus Arteriosus Duktus Arteriosus Duktus Arteriosus
Penyakit Jantung Bawaan (PJB)

• Deteksi Dini
– Diagnosis prenatal
• Fetal ekokardiografi
Penyakit Jantung Bawaan (PJB)

• Diagnosis
– Riwayat penyakit
– Pemeriksaan fisis
– Pemeriksaan penunjang
• Analisis gas darah DD/
• EKG
• Foto Rontgen toraks
• Ekokardiografi
• Kateterisasi
• Lain-lain: MS CT-scan, MRI
 History taking
• Gestational and Natal History
- Infections
(Maternal Rubella, CMV, herpesvirus, coxsackievirus B)
- Medications
(Amphetamines, phenytoin, retinoic acid, valproic acid)
- Excessive alcohol intake
- Maternal conditions
(diabetic, lupus erythematosus)
• Postnatal History
Tanda dan Gejala PJB
• BB sulit naik
• Toleransi latihan berkurang
– Bayi Masalah minum
– Intermittent feeding
– Prolonged feeding
– Anak besar  Dyspneu on exertion
• Takipnea
• Ortopneu
• Sianosis
• Perfusi sistemik menurun
• ISPA berulang
• Bising jantung
• Lain-lain: kejang
• Growth pattern in infants with CHD :
- cyanotic patients : disturbances in both height
and weight
- Acyanotic patients (particularly those with large
L  R shunt) : more problems with weight gain
than linear growth
- Acyanotic with pressure overload lesions
without intracardiac shunt grow normally
Sianosis
• Sianosis
– Kebiruan pada kulit dan membran mukosa
– Hb-reduksi di atas 5 g/dL pada vena kulit (normal Hb-
reduksi 2 g/dL).
• Sianosis sentral
– Dihubungkan dengan desaturasi darah arteri
• Sianosis perifer
– Saturasi darah arteri normal
– Peningkatan ambilan oksigen pada jaringan
» Renjatan
» Hipovolume
» Vasokonstriksi akibat kedinginan
Sianosis Sentral vs Perifer

• Sentral
– Mukosa mulut
– lidah
• Perifer
– Akral

Lefkowitz B, 2000
Sianosis

• Hb tinggi: mudah timbul sianosis

• Hb rendah: sianosis (-)
• Contoh:
– Hb 15 g/dL sianosis muncul pada SaO2 80%
– Hb 20 g/dL sianosis muncul pada SaO2 85%
– Hb 6 g/dL sianosis muncul pada SaO2 50%
Sianosis
• Untuk timbul sianosis Hb-reduksi 5 g/dl
• Normal Hb-reduksi 2 g/dl, jadi perlu 3 g/dl lagi
• Formula: Desaturasi x Hb = 3
Desaturasi = 3/Hb
• Contoh:
– Hb 15 g/dL
– Desaturasi = 3/15 = 0,2 atau 20%
– SaO2= 100-20 = 80%
– Jadi Pada Hb 15 g/dL, Sianosis muncul pada SaO2 80%
 Clubbing Fingers
• Caused by soft tissue growh under the nail bed
as a consequences of central cyanosis
• Mechanism for soft tissue growht is unclear
• Hypothesis : megakaryocytes present in
systemic venous blood
 Cytoplasma of megakaryocytes contains
growth factors

Normal

Platelet are formed from the cytoplasm of

megakaryocytes by fragmentation during
their passage through pulmonary circulation
Clubbing Fingers
• Usually doesn’t occur until a child is 6
months or older
• It is seen first and most pronounced in
thumb
• Early stage : it appears as shininess and
redness of fingertips
• Fully developed : fingers & toes become
thick, wide and have convex nail beds
• Clubbing is also seen in patients with liver
disease, subacute bacterial endocarditis and
hereditary basis without cyanosis
Steps in Management of Cyanotic Newborns

• Chest X-Ray
• ECG
• Arterial blood gases in room air
• Hyperoxitest
• Umbilical artery line
• Prostaglandin E1
Chest X Ray
 Arterial blood gases in room air
confirm or reject central cyanosis

Elevated PCO2  pulmonary or CNS problems

Low PO2  sepsis, circulatory shock or severe

hypoxemia
 70%
100%

Normal

70% 100%
Penyakit Paru Sianosis Sentral
Kelainan Jantung

70% 80% 70% 100%

70% 80% 70% 80%

 70% 100%

Sianosis
Perifer
70% 100%

80%
Udara Kamar
– 21% O2
Kelainan Paru 100% O2

70% 80% 70%

100%

70% 80% 70% 100%

Udara Kamar Kelainan Jantung 100% O2
– 21% O2

70% 70%
100% 100%

70% 80% 70%

80%
 Uji Hiperoksia
Oxygen Ventilation PaCO2 PaO2 Values
Concentration Status Goal
(%) PPHN Lung RL Cardiac
Disease

21 %-room air Spontaneous 40 40 40 40

100 %-hyperoxia Spontaneous or 40 40 >100 40

MV
100 %-pre and Spontaneous or 40 >10-15 <5 <5
postductal shunt MV

100 %- MV 20-25 >100 >150 40

hyperoxia, (Mechanical
hyperventilation ventilation)

Thompson TR, The Cyanotic Newborn Infant

http://www.med.umn.edu/img/assets/9223