Congenital heart

disease
Desalegn M
Pediatrician

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 Epidemiology

• Congenital heart disease occurs in 0.8%

of live births.
• The incidence is higher in
• spontaneous abortuses (10–25%), and
• stillborns (3–4%),
• premature infants (about 2% excluding PDA).

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 Relative Frequency of congenital heart disease

% OF ALL
LESION LESIONS
Ventricular septal defect 35–30
Atrial septal defect (secundum) 6–8
Patent ductus arteriosus 6–8
Coarctation of aorta 5–7
Tetralogy of Fallot 5–7
Pulmonary valve stenosis 5–7
Aortic valve stenosis 4–7
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d-Transposition of great arteries 3–5
lesion % of all lesions

Hypoplastic left ventricle 1–3

Hypoplastic right ventricle 1–3

Truncus arteriosus 1–2

Total anomalous pulmonary venous return 1–2

Tricuspid atresia 1–2

Single ventricle 1–2

Double-outlet right ventricle 1–2

Others 5–10
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Congenital heart disease in fetal life

• Most congenital defects are well tolerated in the

fetus because of the parallel nature of the fetal
circulation.
• CHD becomes apparent after birth when the fetal
pathways are closed.

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Time of presentation

• At birth
• Present with severe respiratory distress
• Critical semilunar valve stenosis
• Hypoplastic left heart syndrome
• D-transposition with no shunt leision
• At 6-8 weeks
• Most left to right shunt lesions
• When the pulmonary vascular resistance decreases to less than the
systemic pressure.
• Symptomatology depends on the degree of shunt
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Dynamics of congenital heart disease

• The severity of various defects can change

dramatically with growth.
• Muscular VSDs become smaller or close
spontaneously.
• Semilunar valve stenosis mild in the newborn
period, may become worse if valve orifice growth
does not keep pace with patient growth.

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Etiology

• Multifactorial
• Heriditary/familial
• Chromosomal
• Teratogenic factors/environmental/maternal drug
use .
• Heart disease is found in more than 90% of patients
with trisomy 18, 50% of patients with trisomy 21, and
40% of those with Turner syndrome.
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 Cardiac defects in common syndromes

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CHARGE association (coloboma, heart, VSD, ASD, PDA, TOF, endocardial
atresia choanae, retardation, genital and cushion defect
ear anomalies)

DiGeorge sequence, CATCH 22 (cardiac Aortic arch anomalies, conotruncal

defects, abnormal facies, thymic aplasia, anomalies
cleft palate, and hypocalcemia)

Alagille syndrome (arteriohepatic dysplasia) Peripheral pulmonic stenosis

VATER association (vertebral, anal, tracheo VSD, TOF, ASD, PDA

esophageal, radial, and renal anomalies)

FAVS (facio-auriculo-vertebral
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 Environmental risks
• 2 to 4% of cases of CHD
• Environmental
• Adverse maternal conditions
• maternal diabetes mellitus
• systemic lupus erythematosus;
• phenylketonuria
• Teratogenic influences
• congenital rubella syndrome
• maternal ingestion of drugs (lithium, ethanol, warfarin, thalidomide,
antimetabolites, vitamin A derivatives, anticonvulsant agents).

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Gender differences

• Transposition of the great arteries and left-sided

obstructive lesions are slightly more common in
boys (65%), whereas shunt leisions and pulmonic
stenosis are more common in girls.
• No racial differences in CHD.

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Familial risks

• The risk of recurrence of congenital heart disease

increases if a 1st-degree relative is affected.
o One first degree relative is affected; risk is 2–6%.
o Two 1st-degree relatives affected : the risk may reach
20–30%.
o When a 2nd child is found to have congenital heart
disease, it will tend to be of a similar class as the
lesion in their 1st-degree relative.
• The degree of severity and associated defects may be
variable.
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Basis of classification of CHD

• Presence or absence of cyanosis

• Chest X ray (pulmonary blood flow)
• increased, normal, or decreased pulmonary
vascular markings.
• Electrocardiogram
• right, left, or biventricular hypertrophy

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Acyanotic CHD

• Can be classified according to the predominant

physiologic load that they place on the heart
• Lesions causing volume overload
• left-to-right shunt lesions(ASD,VSD,PDA).
• Atrioventricular valve regurgitation(AV septal
defect)
• Cardiomyopathies
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• lesions causing pressure over load
• ventricular outflow obstruction(AS,PS)
• coarctation of the aorta.

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left-to-right shunting lesions

• The pathophysiologic common

denominator in this group is
• Presence of a communication
between the systemic and
pulmonary sides of the circulation,
which results in shunting of fully
oxygenated blood back into the
lungs for a 2nd passage
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• The direction and magnitude of the shunt depend on
• the size of the defect and
• the relative pulmonary and systemic pressure and
vascular resistance
• the compliances of the 2 chambers connected by the
defect.
 These factors are dynamic and may change dramatically
with age

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Dynamic changes

• Intracardiac defects may grow smaller with time.

• Pulmonary vascular resistance decreases to normal
adult levels by several weeks of life and pts with
shunt lesion become symptomatic.
• Chronic exposure of the pulmonary circulation to
high pressure and blood flow results in a gradual
increase in pulmonary vascular resistance
(Eisenmenger physiology) with shunt reversal.
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Lesions resulting in increased pressure load

• Pathophysiologic common denominator of lesions

resulting in increased pressure load is an
obstruction to normal blood flow
• Pulmonic stenosis
• Aortic stenosis
• Coarctation of the aorta
• Tricuspid or mitral stenosis and cortriatriatum.
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 Cyanotic CHD

• Leisions with decreased pulmonary blood flow

• Tetralogy of fallot,
• Pulmonary atresia with an intact septum,
• Tricuspid atresia,
• Total anomalous pulmonary venous return with obstruction

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• Leisions with increased pulmonary blood flow
• Transposition of the great vessels,
• Truncus arteriosus,
• Single ventricle,
• Total anomalous pulmonary venous return
without obstruction.

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Cyanosis with decreased pulmonary blood flow

• Cyanosis is caused by
• Obstruction to pulmonary blood flow with right to left shunt
of venus blood.
• The degree of cyanosis depends on the degree of obstruction to
pulmonary blood flow.

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Cyanosis with increased pulmonary blood flow

• Cyanosis is caused by
• Abnormal ventricular-arterial connections
• Transposition of the great vessels
• Total mixing of systemic venous and pulmonary venous
blood within the heart
• A common atrium or ventricle,
• Total anomalous pulmonary venous return, and
• Truncus arteriosus

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 Acyanotic heart disease

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 Ventricular Septal Defect

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VSD Anatomy

• There are three main anatomic components of the

interventricular septum
• The septum of the atrioventricular (AV) canal
(component 1)
• The muscular septum (component 2)
• The parietal band or distal conal septum
(component 3)

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 VSDs may occur at any portion of the ventricular septum

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• Inadequate development of any of the component
parts of ventricular septum
• communication between the two ventricles

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 Types of VSD

• Membraneous; most commen type

• Muscular
• Supracristal
• AV canal defect
• Supracristal VSD are found just beneath the pulmonary
valve and may impinge on an aortic sinus and cause
aortic insufficiency.

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Pathophysiology.

• Determinants of left-to-right shunt in VSD.

• Size of the VSD –major determinant
• Pulmonary vascular resistance

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• Restrictive VSD
• Small VSD<0.5 cm2
• Large VSD (nonrestrictive)
• Size usually >1.0 cm2,
• Right and left ventricular pressure is equalized.
• Direction and magnitude of shunt are
determined by qp:qs.

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Pathophysiology

• As pulmonary vascular resistance continues to fall

in the 1st few weeks after birth because of normal
involution of the media of small pulmonary
arterioles, the size of the left-to-right shunt
increases.
• Eventually, a large left-to-right shunt develops, and
clinical symptoms become apparent.

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• With continued exposure of the pulmonary
vascular bed to high systolic pressure and high
flow, pulmonary vascular obstructive disease
develops.
• When the ratio of pulmonary to systemic resistance
approaches 1 : 1, the shunt becomes bidirectional,
the signs of heart failure abate, and the patient
becomes cyanotic (Eisenmenger physiology).

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Clinical features

• Small VSDs are asymptomatic.

• Large VSDs
• dyspnea, feeding difficulties, poor growth, profuse
perspiration, recurrent pulmonary infections, and heart failure
in early infancy.
• Physical findings (large VSD)
• Holosystolic murmur at LLSB
• Diastolic murmur at apex- increased flow
• Accentuated P2- pulmonary HTN
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 Diagnosis

• CXR
• cardiomegaly, prominent Broncho vascular markings,
large pulmonary artery
• ECG
• Biventricular hypertrophy
• Peaked or notched P wave
• Echocardiography
• Site and size of defect, associated cardiac lesions
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 Natural history

• Spontaneous closure may occure during the first 4

yrs.
• Closure may occur by
• hypertrophy of the septum, formation of fibrous
tissue, subaortic tags, apposition of the septal
leaflet of tricuspid valve, or, rarely, prolapse of
a leaflet of the aortic valve.
• .
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• Closure is most frequently observed in muscular
defects (80%) followed by perimembranous defects
(35-40%).
• Outlet VSDs have a low incidence of spontaneous
closure, and inlet VSDs do not close

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 complications

• Heart Failure
• Pulmonary hypertension
• Eisinmenger physiology.
• Aortic regurgitation-Supracristal VSD
• Acquired infundibular Pulmonary stenosis.
• Infective endocardities

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Treatment

• For those who had large VSD with CHF

• Diuretics,digoxin,ACE inhibitors
• Good oral & dental hygiene
• Definitive treatment
• Palliative pulmonary artery banding
• Closure of VSD

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 Indications for surgery

• CHF & failure to thrive uncontrolled medically;

• infants 6 -12 mo. of age with large defects with
pulmonary hypertension
• patients older than 24 mo. with a Qp : Qs ratio
greater than 2 : 1.
• Supracristal VSD irrespective of size.

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 References

Nelson text book of pediatrics 21st edition

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