CONGENITAL HEART DISEASE

Anindita Soetadji
Division of cardiology, Child-health Department
Diponegoro University/Dr.Kariadi Hospital
Indonesia
 Peter Drucker:

Do the right thing, its effective

Do the thing right, its effisien
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
Flow calculation (Fick formula)
Resistance
PVR
SVR
FETAL PERINATAL
CIRCULATION
Pulmonaary 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 ventricular septal defect
or patent ductus arteriosus
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
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 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 ascending aorta.
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
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 (1)

characteristic of the disease: 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.
 Cyanotic Tetralogy of Fallot Acyanotic Tetralogy of Fallot

The heart size is normal or X-ray findings of acyanotic

smaller than normal, ulmonary TOF are indistinguishable
vascular markings are
from those of a small to
decreased. Black lung fields
are seen in TOF with moderate VSD (but patients
pulmonary atresia. with TOF have RVH rather
A concave main PA segment than LVH on the ECG).
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 APCAS
ToF with MAPCAs
 1
NATURAL HISTORY
1. Infants with acyanotic TOF gradually 5. Growth retardation may be
become cyanotic. Patients who are present if cyanosis is severe.[*]
already cyanotic become more
cyanotic as a result of the worsening
condition of the infundibular stenosis 6. Brain abscess and
and polycythemia. cerebrovascular accident rarely
occur.[*]
2. Polycythemia develops secondary to
cyanosis.[*] 7. SBE is occasionally a
complication.[*]
3. Physicians need to watch for the
development of relative iron- 8. Some patients, particularly those
deficiency state (i.e., hypochromia) with severe TOF, develop AR.
(see Chapter 11 ).[*]
9. Coagulopathy is a late
4. Hypoxic spells may develop in infants complication of a long-standing
(see Chapter 11 ). 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?
 EXERCISE AND
SQUATTING IN TOF
PATIENTS
Hemodynamic changes with squatting. An adult patient 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
systemic venous return. With exercise, 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 the
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
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
Ross procedure Konno procedure

For aortic stenosis or severe

aortic insufficiency
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.