CONGENITAL HEART DISEASE

Anindita Soetadji
Division of cardiology, Child-health Department
Diponegoro University/Dr.Kariadi Hospital
Indonesia
Embriologi jantung
Siklus jantung
INSIDENS

• Insidens di berbagai tempat di dunia hampir sama

• Negara maju ≈ sedang berkembang, 6 – 10 / 1000 kelahiran hidup
• Non sianotik > sianotik (3 : 1)
Acyanotic •Shunt (L  R)
CHD •Obstruction

Cyanotic • PBF (plethoric)

CHD • PBF (oligemic)
Pemeriksaan
• Anamnesis
• Pemeriksaan fisik
• Pemeriksaan penunjang:
• Darah: darah lengkap, elektrolit, ASTO, CRP, BNP
• Thorax foto
• EKG, Holter monitoring
• Ekokardiografi (echocardiography)
• Transtorakal ekokardiografi
• Transesofageal ekokardiografi
• Ekokardiografi intrakardiak
• Feta ekokardiograffi
• Ekokardiografi kontras
• Doppler ekokardiografi, etc
• Kateterisasi jaantung
• CT-scan: MSCT
• MRI
Kateterisasi-angiografi
Chest x ray
Heart:
• Beware dextrocardia
• Cardiomegaly
• Shape: end on site, boot
shaped
Lung:
• Pletorhic
• Oligemic
• Lung oedema
Coarctation of the aorta
Normal heart
Normal hemodynamic
Normal hemodynamic
FETAL –PERINATAL CIRCULATION
 Control Ventiltation

Effects of birth
events on the
proportions on
combined
ventricular output
flowing through
the cardiac Oxygenation Cord occlusion
chambers and
great vessels in
fetal lambs.
Pulmonary resistance
NEONATAL CONDITIONS THAT MAY INTERFERE WITH THE
NORMAL MATURATION OF PULMONARY ARTERIOLES

• Hypoxia and/or altitude

• Lung disease (e.g., hyaline membrane disease)
• Acidemia
• Increased pulmonary artery pressure secondary to large shunt
• Increased pressure in the left atrium or pulmonary vein
Acyanotic CHD
Acyanotic CHD

Shunt Obstruction

• VSD • PS
• PDA • AS
• ASD • CoA
• AVSD
Ventricular septal defect (VSD)
INSIDENS

• PJB yang paling sering ditemukan

• 30 % dari PJB
• Sebagian besar kasus diagnosis tegak setelah lewat neonatus
• Minggu pertama kehidupan bising belum terdengar
KLASIFIKASI MENURUT FISIOLOGI

DSV kecil

DSV sedang resitensi vaskular paru bervariasi

DSV besar, peningkatan resistensi vaskular paru

ringan – sedang

DSV besar dengan resistensi vaskular paru berat.

Anatomy
MANIFESTASI KLINIK
Anamnesis
DSV Kecil DSV Sedang-besar

• Asimptomatik • TK terhambat
• Tumbuh kembang • Toleransi latihan ↓
normal • ISPA berulang
• GJK
• Sindrom Eisenmenger
(anak
besar/remaja/dewasa
muda)
Pemeriksaan fisik

DSV kecil DSV sedang-besar

• :
• Tum-bang normal • Gng tum-bang
• Tanda-tanda GJK:
• Takipneu, dispneu
• takikardi
• Sianosis & jari
tabuh  Sindrom
Eisenmenger
Pemeriksaan jantung

• Apeks bergeser ke kiri bawah

• Iktus melebar, kuat angkat
• Bila bising keras, dapat teraba thrill
• Bunyi jantung 1 normal, II normal
• PH  terdengar BJ II mengeras
Bising jantung
Cardiac findings of a large VSD
Radiologi
• tidak ada kelainan

DSV kecil

• kardiomegali, konus pulmonal menonjol, corakan

bronkovaskular
DSV sedang

• konus pulmonalis sangat menonjol, daerah paru perifer

iskemik, ukuran jantung dapat normal
DSV besar + hipertensi
pulmonal ( sindrom
Eisenmenger)
Posteroanterior and lateral views of chest roentgenograms of a ventricular septal
defect with a large shunt and pulmonary hypertension. The heart size is
moderately increased, with enlargement on both sides. Pulmonary vascular
markings are increased, with a prominent main pulmonary artery segment.
EKG:

• kecil normal
• sedang : LVH
• besar : RAD + BVH
Tracing from a 3-month-old infant with a large ventricular septal defect,
patent
ductus arteriosus, and pulmonary hypertension. The tracing shows
biventricular hypertrophy with left dominance. Note that V2 and V4 are in ½
standardization.
NATURAL HISTORY
1. Spontaneous closure (30% to 40%) of patients with
membranous VSDs and muscular VSDs during the first
6 months of life.

2. CHF , large VSDs, usually not until 6 to 8 weeks of age.

3. Pulmonary vascular obstructive disease may begin to

develop as early as 6 to 12 months of age in patients
with large VSDs, but the resulting right-to-left shunt
usually does not develop until the teenage years.

4. Infundibular stenosis may develop in some infants

with large defects

5. Infective endocarditis
Medical management
1. Treatment of CHF
• Digoxin, diuretics, after load reducing agent
• Frequent feedings of high-calorie formulas (nasogastric tube or oral
feeding)
• Anemia, oral iron therapy.
1. No exercise restriction is required in the absence of pulmonary
hypertension.

2. Maintenance of good dental hygiene and antibiotic prophylaxis

against infective endocarditis
Intervention

• Nonsurgical
1. Nonsurgical closure of selected muscular VSDs is possible using the
device

• Surgical
• Palliative : PA banding
• Corrective: VSD closure
PA band
Patent ductus arteriosus
PREVALENCE

• PDA occurs in 5% to 10% of all congenital heart defects, excluding

premature infants. (male/female ratio of 1:3).

• PDA is a common problem in premature infants

Hemodynamic changes

Always remember normal hemodynamic

PATHOLOGY

• There is a persistent patency of a normal fetal structure between the

left PA and the descending aorta, that is, about 5 to 10 mm distal to
the origin of the left subclavian artery.

• The ductus is usually cone shaped with a small orifice to the PA,
which is restrictive to blood flow.

• The ductus may be short or long, straight or tortuous.

History

• Patients are usually asymptomatic when the ductus is small.

• A large-shunt PDA may cause a lower respiratory tract infection,

atelectasis, and CHF (accompanied by tachypnea and poor weight
gain).

• Exertional dyspnea  large-shunt PDA

Physical Examination
Physical Examination
• Tachycardia and tachypnea may be present in infants with
CHF.
• Bounding peripheral pulses with wide pulse pressure
(with elevated systolic pressure and lower diastolic
pressure) are characteristic findings.
• The precordium is hyperactive.
• A systolic thrill may be present at the upper left sternal
border.
• The P2 is usually normal, but its intensity may be
accentuated if pulmonary hypertension is present.
• A grade 1 to 4/6 continuous (“machinery”) murmur is best
audible at the left infraclavicular area or upper left sternal border.

• Crescendo systolic at the upper left sternal border in small infants

or infants with pulmonary hypertension.

• Apical diastolic rumble means PDA shunt is large.

• Patients with a small ductus do not have the preceding findings.

• Pulmonary vascular obstructive disease  right-to-left ductal

shunt results in cyanosis only in the lower half of the body (i.e.,
differential cyanosis).
Electrocardiography

• similar to those in VSD

X-ray Studies

• X-ray findings are also similar to those of VSD

• Chest x-ray films may be normal with a small-shunt PDA.

• Cardiomegaly of varying degrees occurs in moderate- to large-shunt
PDA with enlargement of the LA, LV, and ascendingaorta.
• Pulmonary vascular markings are increased.
• With pulmonary vascular obstructive disease, the heart size becomes
normal, with a marked prominence of the PA segment and hilar
vessels.
NATURAL HISTORY
• Unlike that in premature infants, spontaneous closure of a PDA
does not usually occur in full-term infants and children. This is
because the PDA in term infants results from a structural
abnormality of the ductal smooth muscle rather than decreased
responsiveness of the premature ductus to oxygen.

• CHF or recurrent pneumonia or both develop if the shunt is large.

• Pulmonary vascular obstructive disease may develop if a large
PDA with pulmonary hypertension is left untreated.
• Infective endocarditis may occur.
• Although rare, an aneurysm of PDA may develop and possibly
rupture in adult life.
Echocardiography
examination

PDA
Tatalaksana

• Medikamentosa
• Diuretik
• Menurunkan afterload
• Korektif
• Transkateter : Oklusi PDA (PDA occluder, coil)
• Bedah: PDA ligasi
PDA occluder
Atrial septal defect
Type of ASD
Hemodynamic changes
Always remember the normal hemodynamic
Endocardial cushion defect
Hemodynamic changes
ECD
CoA
Interrupted Ao Arch
Aortic stenosis
HLHS
Ebstein Anomaly
Cyanotic defect
Tetralogy of Fallot
ToF
PREVALENCE

 TOF occurs in 5% to 10% of all congenital heart defects.

 This is probably the most

 common cyanotic heart defect
The four anatomic features characteristic of
the disease: (1)
stenosis of the
pulmonary
artery,

Van Praagh : (2)

ventricular
septal defect
The abnormal
(VSD)
superior,
anterior, and
leftward
position of (3) deviation to
the the right of the
infundibular origin of the
septum aorta,
(4)
hypertrophy
of the right
ventricle
 The general categories of TOF are:

1. Classic TOF with varying degrees of pulmonary stenosis,

2. TOF with common atrioventricular canal defect,
3. TOF with absent pulmonary valve
Clinical manifestation
Physical Examination

• Varying degrees of cyanosis, tachypnea, and clubbing (in older infants

and children) are present.

• An RV tap along the left sternal border and a systolic thrill at the
upper and mid-left sternal borders are commonly present (50%).
• An ejection click that originates in the aorta may be audible.
• The S2 is usually single because the pulmonary component is too
soft to be heard.
• A long, loud (grade 3 to 5/6) ejection-type systolic murmur is
heard at the middle and upper left sternal borders.
• This murmur originates from the PS but may be easily confused
with the holosystolic regurgitant murmur of a VSD.
• The more severe the obstruction of the RVOT, the shorter and softer
the systolic murmur.
• In a deeply cyanotic neonate with TOF with pulmonary atresia, heart
murmur is either absent or very soft, although a continuous murmur
representing PDA may be occasionally audible.
• In the acyanotic form, a long systolic murmur, resulting from VSD
and infundibular stenosis, is audible along the entire left sternal
border, and cyanosis is absent.

• Thus, auscultatory findings resemble those of a small-shunt VSD

(but, unlike VSD, the ECG shows RVH or BVH).
Comparison of ejection systolic murmurs in
tetralogy of Fallot (A) and isolated
pulmonary valve stenosis (B)
Electrocardiography
• Right axis deviation (RAD) (+120 to +150 degrees) is present in
cyanotic TOF.
• In the acyanotic form, the QRS axis is normal.
• RVH is usually present, but the strain pattern is unusual
(because RV pressure is not suprasystemic).
• BVH may be seen in the acyanotic form. RAH is occasionally
present.
Chest x-ray

Posteroanterior view of chest roentgenogram in tetralogy of Fallot.

The heart size is normal, and pulmonary vascular markings are decreased. A
hypoplastic main pulmonary artery segment contributes to the formation of
the “boot-shaped” heart.
• The heart size is normal or • X-ray findings of acyanotic TOF
smaller than normal, pulmonary are indistinguishable from those
vascCuylaarnomtiacrkTeintgrasloagreydoefcFraelaosted. ofAacysamnaoltlictoTemtroadloegryatoefVFSaDlo(tbut
“Black” lung fields are seen in patients with TOF have RVH
TOF with pulmonary atresia. rather than LVH on the ECG).
• A concave main PA segment with
an upturned apex (i.e., “boot-
shaped” heart or coeur en sabot)
is characteristic .
• Right atrial enlargement (25%)
and right aortic arch (25%) may
be present.
Acyanotic and cyanotic ToF

Acyanotic ToF Cyanotic ToF

Patterns of coronary artery
anatomy in TOF as imaged
from the parasternal short-
axis view

(Ant, anterior; CX, left

circumflex branch; L, left;
LAD, left anterior
descending coronary artery;
R, right; RCA, right coron)ary
artery; Post, posterior.
ToF/PA

There are four anatomic pulmonary subgroups.

Group I - The main, right and left pulmonary arteries are well developed, and the blood flow is
supplied by a large PDA.
Group II - The main PA is absent. The right and left pulmonary arteries are well developed, and
blood flow is supplied by a large PDA.
Group III - The ductus is either absent or very small. Both left and right pulmonary arteries are
diminutive or hypoplastic. The major source of pulmonary blood flow is supplied by aorto
pulmonary collaterals (APCAS).
Group IV - There are no true pulmonary arteries. Pulmonary blood flow is supplied entirely by
APCA’S
ToF with MAPCA’s
 1

NATURAL HISTORY
1. Infants with acyanotic TOF 5.
gradually become cyanotic.
Patients who are already cyanotic
become more cyanotic as a result
of the worsening condition of the 6.
infundibular stenosis and
polycythemia.
Growth retardation may be
present if cyanosis is severe.[*]
Brain abscess and
cerebrovascular accident rarely
occur.[*]

2. Polycythemia develops secondary 7. SBE is occasionally a

to cyanosis.[*] complication.[*]

3. Physicians need to watch for the 8. Some patients, particularly

development of relative iron-
deficiency state (i.e., hypochromia)
(see Chapter 11 ).[*]
9.
4. Hypoxic spells may develop in
infants (see Chapter 11 ).
those with severe TOF, develop
AR.
Coagulopathy is a late
complication of a long-standing
cyanosis.[*]
Murmur
ToF management
Palliative surgery
BT-shunt (Right BT shunt)
ToF correction
Mechanism of hypoxic
spell.
A decrease in the arterial
PO2stimulates the
respiratory center, and
hyperventilation results. Hyperpnea
increases systemic venous return. In
the presence of a fixed right
ventricular outflow tract (RVOT), the
increased systemic venous return
results in increased right-to- left (R-
L) shunt, worsening cyanosis. A
vicious circle is established. SVR,
systemic vascular resistance.
How to overcome cyanotic spell?
 E x e rcis e a nd s qu a ttin g
Hemo dy na m ic ch an ge sw it hsq ua t ing .A n a du ltpatient with tetralogy of Fallotwas studied during cardiac catheterization with
determinations of arterial oxygen saturation and arterial lactate levels. The latter was used as an indicator of the change in the
in To F pat ie n t s
system icve n ou sre tu rn .W ith e xe rcise,there is an immediate drop in the arterial saturation and an increase in systemic venous return.
With squatting (a knee-chest position), there is an immediate rise in arterial oxygen saturation and a drop in systemic venous return.
(From Guntheroth WG, Morgan BC, Mullins GL, Baum D: Venous return with knee-chest position and squatting in tetralogy of Fallot.
Am Heart J 75:313-318, 1968.) TRICUSPID ATRESIA
PA/IVS
Tricuspid Atresia
Haemodynamic of TA

Hemodynamics of tricuspid atresia with normally related (A) and transposed

(B) great arteries. Numbers within the diagram denote oxygen saturations, and those outside
diagram denote pressure values.
ECG of TA

• ECG that shows a superior QRS axis, RAH, and LVH and
Chest x-ray

• Chest x-ray films that show enlargement of the RA (with or without

left atrial enlargement), a concave PA segment, and decreased
pulmonary vascularity
Pulmonary atresia
DORV
Truncus arteriosus
Truncus arteriosus
TGA
D-TGA
L-TGA
TAPVR
TAPVR
 Hemodynamic of TAPVR

Hemodynamics of total anomalous pulmonary venous return without

(A) and with (B) obstruction to the pulmonary venous return.
In the nonobstructive type (A), the hemodynamics are similar to those of a large atrial septal
defect, with the exception of a mild systemic arterial desaturation. In the obstructive type (B),
the hemodynamics are characterized by pulmonary venous hypertension, pulmonary edema,
pulmonary arterial hypertension, and marked arterial desaturation. The heart size is not
enlarged on chest x-ray films. Severe right ventricular hypertrophy is present on the ECG
PS
Anomalus coronary artery
BT shunt
BCPS bidirectioal cavo pumonary shunt =
Glenn shunt
Norwood
Rastelli
Fontan
For aortic stenosis or severe aortic
insufficiency

Ross procedure Konno procedure

Cardiac Malposition

• The term cardiac malposition indicates that the heart is

abnormally located within the chest.

• Levocardia - The heart is located in the left chest (normal).

• Dextrocardia - The heart is located in the right chest.
• Mesocardia - The heart is located in the middle of the chest.

• The hemodynamics associated with cardiac malposition

range from normal to those incompatible with life, and are a
direct consequence of the intra cardiac defect.
• The diagnosis of cardiac malposition is made by chest x-ray.
Heterotaxy

• Visceral Heterotaxy – This term implies that not only the heart but
several of the abdominal viscera may be malpositioned.
• Patients with visceral heterotaxy show a high incidence of cardiac
malformation.
• The primary characteristics include abnormal position of certain
viscera and veins (lungs, liver, vena cava) and situs discordance
between organ systems.
• The spleen is almost always affected in patients with visceral
heterotaxy.
• The spleen may be absent (asplenia) or multi-lobed (polysplenia).
• Rarely is it of normal size or normally positioned.
Shones Complex
• Shones complex is an anatomic collection of multiple left sided
obstructive lesions including supravalvar mitral ring, parachute
mitral valve, subaortic stenosis and coarctation of the aorta.
Coarctasio aorta
Interrupted Aortic arch