Outline

 Prevalence

 Etiology

 Evaluation of the patient

 Specific lesions

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 Congenital heart disease
EPEDIMIOLOGY
 In live births (0.5–0.8%)
 In premature infants (about 2% excluding PDA
 In stillborns (3–4%)
 In spontaneous abort uses (10–25%)
 This overall incidence does not include MVP, PDA of
preterm infants, and bicuspid aortic valves (present in
1–2% of adults).
 The incidence of congenital heart disease in the normal
population is ≈0.8%
 And this incidence increases to 2–6% for a 2nd
pregnancy after the birth of a child with congenital
heart disease or if a parent is affected.

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CHD………..
 CHD have a wide spectrum of severity in
infants:
• about 2–3 in 1,000 newborn infants will be
symptomatic with heart disease in the 1st yr
of life.

 The diagnosis is established by :

• 1 wk of age in 40 –50% of patients
• 1 mo of age in 50 – 60% of patients.

 With advances in both palliative and

corrective surgery, the number of children
with CHD surviving to adulthood .
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Con’d
 Most congenital defects are well
tolerated in the fetus because of the
parallel nature of the fetal circulation.

 But in Ebstein anomaly , the parallel

fetal circulation cannot compensate .

 In utero heart failure, often with fetal

pleural and pericardial effusions, and
generalized ascites (nonimmune
hydrops fetalis) may occur.
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Prevalence of CHD

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 The Fetal Circulation

 Inthe fetus, the placenta provides for gas and

metabolite exchange.
 Since the lungs do not provide gas exchange,
the pulmonary vessels are vasoconstricted,
diverting blood away from the pulmonary
circulation.

 Three cardiovascular structures unique to the

fetus are important for maintaining this parallel
circulation:
the ductus venosus
foramen ovale, and
ductus arteriosus.
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 The placenta is not as efficient an oxygen
exchange organ as the lungs, so that umbilical
venous Po2 is only about 30-35 mm Hg.
 Approximately 50% of the umbilical venous
blood enters the hepatic circulation, whereas
the rest bypasses the liver via DV and join IVC.
 This combined lower body plus umbilical
venous blood flow (Po2 of ≈26-28 mm Hg)
enters the right atrium and is preferentially
directed by a flap of tissue at the RA–IVC
junction(the Eustachian valve), across the FO
to the LA.
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 This is the major source of LV blood flow, since
pulmonary venous return is minimal.
 Left ventricular blood is then ejected into the
ascending aorta where it supplies predominantly the
fetal upper body and brain.
 Fetal SVC blood, which is considerably less oxygenated
(Po2 of 12-14 mm Hg), enters the RA and
preferentially flows across the tricuspid valve, rather
than the FO, into the RV.
 From the RV, the blood is ejected into the pulmonary
artery.
 Because the pulmonary arterial circulation is
vasoconstricted, only about 5% of right ventricular
outflow enters the lungs.
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Fetal circulation……….
 The major portion of this blood bypasses the
lungs and flows right-to-left through the
ductus arteriosus into the descending aorta to
perfuse the lower part of the fetal body.

 The upper part of the fetal body (including the

coronary and cerebral arteries and those to
the upper extremities) is perfused exclusively
from the LV with blood that has a slightly
higher Po2 than the blood perfusing the lower
part of the fetal body, which is derived mostly
from the RV.
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Fetal circulation….
 The total fetal cardiac output—the combined
output of both the left and right ventricles—is
≈450 mL/kg/min.
 Approximately 65% of descending aortic blood
flow returns to the placenta; the remaining 35%
perfuse the fetal organs

 It has been postulated that blood flow is an

important determinant of growth of fetal cardiac
chambers, valves, and blood vessels and tissues.
 Thus, in the presence of a narrowing (stenosis) of
an upstream structure such as the mitral valve,
flow downstream into the left ventricle is limited
(=HLHS)
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ETIOLOGY

 Thecause of most congenital heart

defects is unknown.

 Mostcases of congenital heart disease

were thought to be;
multifactorial -result from a
combination of genetic predisposition
and environmental stimulus.

A small percentage of congenital heart

lesions are related to chromosomal
abnormalities
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Evaluation of the Infant or Child with
Congenital Heart Disease
 The initial evaluation for suspected congenital heart
disease involves a systematic approach with three major
components.

 First, congenital cardiac defects can be divided into two

major groups based on the presence or absence of
cyanosis, which can be determined by physical
examination aided by pulse oximetry.
 Acyanotic
 Cyanotic
 Second, these two groups can be further subdivided
according to whether the chest radiograph shows
evidence of:
 increased
 normal pulmonary vascular markings
 decreased

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Increased pulmonary Decreased pulm.blood
blood flow flow

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Con’d
 Finally, the electrocardiogram can be used
to determine whether
 right
 left hypertrophy exists.
 biventricular

 The final diagnosis is then confirmed by

echocardiography, CT or MRI, or cardiac
catheterization

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I- Acyanotic Congenital Heart Disease(CHD)
 Acyanotic congenital heart lesions can be classified
according to the predominant physiologic load that
they place on the heart.
1) lesions that cause a volume load
A) left-to-right shunt lesions.
• ASD,VSD,PDA,AVSD,PAPVR
• Aorticopulmonary Window Defect
• Ruptured Sinus of Valsalva Aneurysm
• Coronary- Arteriovenous Fistula (Coronary-
Cameral Fistula)
B) Regurgitant lesions
 PR,MVP,MR,TR ,AR

C) some of the cardiomyopathies

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Con’d
2) lesions that cause a pressure load (The
Obstructive Lesions)

 ventricularoutflow obstruction
 Pulmonic valve stenosis
 aortic valve stenosis
 narrowing of one of the great vessels
 coarctation of the aorta
 Rarely;MS,TS
 The chest radiograph and electrocardiogram are
useful tools for differentiating between these
major classes of volume and pressure overload
lesions.
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Atrial Septal Defect(ASD)
 can occur in any portion of the atrial septum

types;
1, secundum(OS)- the most common type
2, primum(OP)-ECD
3, sinus venosus(SV)
4,Coronary sinus defect
 Less commonly, the atrial septum may be nearly
absent, with the creation of a functional single atrium.

 An isolated valve-incompetent patent foramen ovale

(PFO) is a common echocardiographic finding during
infancy. It is usually of no hemodynamic significance
and is not considered as ASD

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Con’d…
PATHOPHYSIOLOGY.
 left-to-right shunting increased pul. blood
flow
• At atrial level in Os and SV
• Both at atrial and ventricular level in OP
 The degree of left-to-right shunting is dependent
on:
• the size of the defect
• the relative compliance of the right and left ventricles
• and the relative vascular resistance in the pulmonary
and systemic circulations.
 The paucity of symptoms in infants with ASDs is
related to the structure of the right ventricle in
early life when its muscular wall is thick and less
compliant, thus limiting the left-to-right shunt.

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Con’d
 results in:
 enlargement of the right atrium and ventricle
 dilatation of the pulmonary artery.
 The left atrium may be enlarged
 the left ventricle and aorta normal in size.
 Despite the large pulmonary blood flow, pulmonary
arterial pressure is usually normal because of the
absence of a high-pressure communication between
the pulmonary and systemic circulations.
 Pulmonary vascular resistance remains low
throughout childhood, although it may begin to
increase in adulthood and may eventually result in
reversal of the shunt and clinical cyanosis.

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Con’d

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Con’d
 CLINICAL MANIFESTATIONS.
 A child with an ostium secundum ASD is most often
asymptomatic.

 Even an extremely large secundum ASD rarely

produces clinically evident heart failure in
childhood.

 In younger children, subtle failure to thrive may be

present.
 In older children, varying degrees of exercise
intolerance may be noted.

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Con’d
 The physical findings.
 mild left precordial bulge.
 A right ventricular systolic lift is generally palpable
at the left sternal border.
 A loud 1st heart sound and sometimes a pulmonic
ejection click can be heard.
 In most patients, the 2nd heart sound is
characteristically widely split and fixed.
 A systolic ejection murmur is best heard at the left
middle and upper sternal border.
 A short, rumbling mid-diastolic murmur at the
tricuspid valve is often audible at the lower left
sternal border.
 Holosystolic murmur at the apex in OP(ECD)

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Con’d
 DIAGNOSIS.
 Clinical
 Chest x-ray
 ECG
 ECHO
 Catheterization
 COMPLICATION
 Pulmonary hypertension -eisnmenger syndrome
 arrhythmia
 tricuspid or mitral insufficiency
 heart failure

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Con’d
 TREATMENT.
 Surgical or transcatheter device closure is
advised for :
 all symptomatic patients
 asymptomatic patients with a Qp : Qs ratio of
at least2 : 1.
 The timing for elective closure is usually after
the 1st yr and before entry into school.
 Closure carried out at open heart surgery is
associated with a mortality rate of <1%..
 In patients with small secundum ASDs and
minimal left-to-right shunts, the consensus is
that closure is not required.

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Con’d
 PROGNOSIS
 ASDs detected in term infants may
close spontaneously.
 Secundum ASDs are well tolerated
during childhood.
 The results after surgical or device
closure in children with moderate to
large shunts are excellent.

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Ventricular Septal Defect(VSD)
 VSD is the most common cardiac
malformation .
 Defects may occur in any portion of
the ventricular septum.
 3 types
 membranous – commonest
 Supracristal- less common
 Muscular
 single or
 multiple (Swiss cheese septum).

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Con’d
 PATHOPHYSIOLOGY
 Left-to-right shunt increased pul. blood
flow.
 Restrictive VSDs(usually <0.5 cm2)
 right ventricular pressure is normal
 the size of the defect limits the magnitude of the
shunt
 Nonrestrictive VSDs (usually >1.0 cm2)
 right and left ventricular pressure is equalized
 the direction of shunting and shunt magnitude are
determined by the ratio of pulmonary to systemic
vascular resistance

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Con’d
 The magnitude of intracardiac shunts is usually
described by the Qp : Qs ratio.
 If the left-to-right shunt is small (Qp : Qs <1.75 : 1),
 the cardiac chambers are not appreciably enlarged
and the pulmonary vascular bed is probably
normal.
 If the shunt is large (Qp : Qs >2 : 1),
 left atrial and ventricular volume overload occurs
 right ventricular volume overload and pulmonary
arterial hypertension.
 The main pulmonary artery, left atrium, and left
ventricle are enlarged.
 When the ratio of pulmonary to systemic resistance
approaches 1 : 1,
 the shunt becomes bidirectional
 the signs of heart failure abate, and the patient
31 becomes cyanotic (Eisenmenger physiology)
04/25/25
Con’d

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Con’d
 CLINICAL MANIFESTATIONS
 The clinical findings of patients with a VSD
vary according to the size of the defect
and pulmonary blood flow and pressure.
 Small VSDs with trivial left-to-right shunts
and normal pulmonary arterial pressure
are the most common.
 These patients are asymptomatic
 Characteristically, a loud, harsh, or

blowing holosystolic murmur is present

and heard best over the lower left
sternal border
 it is frequently accompanied by a thrill.

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Con’d
Physical finding
Clinical finding
 Large VSDs -precordial bulge
– dyspnea – Cardiomegaly

– feeding – systolic thrill

difficulties – The holosystolic

murmur of a large VSD
– poor growth is generally less harsh
– profuse than that of a small VSD
perspiration and more blowing .
– recurrent – Early systolic murmur at
pulmonary pulmonic area
infections – a mid-diastolic, low-

– cardiac failure in pitched rumble at the

apex(shunt ratio >2:1)
early infancy
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Con’d
 DIAGNOSIS.
 Clinical
 Chest x-ray
 ECG
 ECHO
 catheterization

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Con’d
 TREATMENT
 Medical management
 Surgical management
 Indications for surgical closure :
 patients , cannot be controlled medically
 infants between 6 and 12 mo of age with

large defects associated with pulmonary

hypertension.
 patients older than 24 mo with a Qp : Qs

ratio greater than 2 : 1.

 Patients with supracristal VSD of any

size.
 Severe pulmonary vascular disease is a
contraindication to closure of a VSD
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Con’d
COMPLICATIONS
 Pulmonary hypertensions
 Infective endocarditis
 Heart failure
 Recurrent lung infections
 AR

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Con’d
 PROGNOSIS.
 The natural course of a VSD depends to a large
degree on the size of the defect.
 A significant number (30–50%) of small defects
close spontaneously, most frequently during the
1st 2 yr of life.
 Small muscular VSDs are more likely to close (up
to 80%) than membranous VSDs are (up to 35%).
 The vast majority of defects that close do so
before the age of 4 yr, although spontaneous
closure has been reported in adults
 It is less common for moderate or large VSDs to
close spontaneously (up to 8% may close
completely)

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Pulmonary Vascular Disease
(Eisenmenger syndrome

 Occur in shunt lesions

VSD - mainly
ASD
PDA
 Reversal of shunt due to pulmonary
hypertension
→ Cyanosis

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II. Cyanotic Congenital Heart
Disease

1)Cyanotic lesions with decreased

pulmonary blood flow

2)Cyanotic CHD With increased pulmonary

blood flow

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 Con’d
Cyanotic lesions with decreased pulmonary
blood flow
1.1 Tetralogy of Fallot(TOF)
 Consists:
1. Rt ventricular outflow obst.
2. Ventricular septal defect
3. Dextroposition of the aorta
4. Right ventricular hypertrophy

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Cyanotic CHD…

Pathophysiology
- Outflow obstruction to right ventricle
- Hypertrophy of subpulmonic muscle
- Normal or small pulmonary valve annulus
- Rarely pulmonary atresia
- VSD - Non-restrictive, located just below aortic
valve
Aortic arch is right side in 20%
Right ventricular output shunts to the aorta

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Cyanotic CHD…

Clinical Manifestation
- Rarely pink TOF - in the absence of
obstruction
- Cyanosis
- Clubbing
- Squatting position in walking children
- Paroxysmal hypercyanotic attacks
 occur during 1st 2 years
- Systolic ejection M at pulmonic area
- Delayed growth & development
- Single 2nd heart sound
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Cyanotic CHD…
Diagnosis
 CXR - Narrow base & uplifted apex
- A boot or wooden shoe
- decreased pulm. vascularity
- Right side aortic arch in 20%
 ECG
 Echocardiography
Complication
- Cerebral thrombosis - in < 2 years
- Brain abscess(most common after two
years)
- Infective endocarditis
- Polycythemia
- CHF in pink TOF
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Cyanotic CHD…

Treatment
 Severe outflow obstruction

1)Medical Px - PGE1 infusion

- Prevent dehydration
- Partial exchange transfusion
-iron supplementation
- Oral propranolol for tet spells
2) Surgery - Blalock Taussig
- Total correction

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Cyanotic CHD…
1.4 Ebstein Anomaly of the tricuspid valve
- Down ward displacement of the tricuspid valve
- Right ventricle with two parts
- atrialized
- normal ventricular myocardium
- Abnormal tricuspid valve
- Huge Rt atrium
- Tricuspid regurgitation
- Compromised Rt ventricular function

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Cyanotic CHD…
Clinical Manifestations
- Easily fatigability
- Cyanosis
- Dysrhythmia
- Rt to Lt shunt through foramen ovale
- Holosystolic M at tricuspid area
- Heart failure
Diagnosis
- CXR - box shaped heart
- ECG - Right BBB
- Superior axis deviation
Treatment
- PGE1
- Surgery
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 Cyanotic CHD…
2.Cyanotic CHD With increased pulmonary
blood flow
2.1 Transposition of GA
a. D -TGA (uncorrected)
- Systemic venous return to Rt atrium
Normal
- Pulmonary venous return to Lt atrium
- Aorta arises from Right ventricle
- Pulm. artery arises from Lt vent.
Pathology

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Cyanotic CHD…

 Systemic & Pulmonary Circulations Consists of

two parallel circuits
 Survival is with associated - patent foramen
ovale or
- VSD or
- PDA
Clinical Manifestations
- Tachypnea & cyanosis at birth
- Rarely congestive heart failure
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 Cyanotic CHD…
b. L. TGA (corrected transposition)
 Systemic VR to normally positioned Rt atrium

Through bicuspid (Mitral) valve

Right sided left ventricle

Pulmo. artery  pulm. venous return

Normally positioned Lt atrium


Through tricuspid valve

Left sided Right ventricle  Aorta
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Cyanotic CHD…
 Discordant atrio-ventricular relation
(ventricular inversion)
 Transposition of great arteries
Clinical Manifestation
Depends on associated malformation

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Cyanotic CHD…
Diagnosis
- Clinical
- CXR - Cardiomegaly
- Narrow mediastinum (egg on string)
- Increased pulmonary blood flow
- ECG
- Echocardiography
Treatment
- PGE1 - emergency
- Surgery

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Cyanotic CHD…
2.2 Truncus
arteriosus
- Single arterial
trunk for both pulm.
&
systemic circ.
- 4 types depending
the origin of
pulmonary artery

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.The most common tye is type1(75%),type
ii(25%), type iii(5%),type IV is non -
existent

Clinical Manifestation
- Cyanosis
- CHF at 2-3rd m
- Systolic ejection m
Treatment - surgery

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Cyanotic CHD…
2.3 Total Anomalous Pulm. Venous return
- Pulm. drainage into systemic vein

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Cyanotic CHD…
2.5 Hypoplastic Left Heart Syndrome
- Under development of Lt Side of the
heart
- Atretic aortic or mitral
orifice
- Non functional Lt ventricle
- Hypoplasia of ascending aorta
 Right ventricle supplies both pulm.
&
systemic circulation
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Cyanotic CHD…
2.6 Persistent fetal circulation

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Thank you!!

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