Republic of Iraq

Ministry of Higher Education and Scientific Research

University of Baghdad - College of Medicine
Department of Medicine

Congenital Heart
Diseases
z

Done by 6 th Grade
Tabarak Radhi Fadhil
Supervised by 2019-2020
Prof. Dr. Muataz Fawzi
 z Objectives:

• Identification of congenital heart diseases.

• Outline the incidence and etiology of congenital heart diseases.
• Explain the etiology of congenital heart diseases.
• Demonstrate the classification of congenital heart diseases.
• Outline different types of congenital heart diseases and
demonstrate its management.
 z Introduction: (1-4)

It is the persistence of any structural abnormality present at birth that involves

the heart and/or great vessels in adult life i.e. beyond 16 years of age. These
malformations are due to complex genetic, multifactorial, and environmental
causes. Malformations that are benign or escape detection in childhood may
become clinically significant in the adult. May be there is no symptoms until
adult life in defects that are well tolerated, such as atrial septal defect, or may
be detected incidentally on routine examination or chest X-ray. Now,
Congenital defects can be corrected completely or at least partially, which were
previously fatal in childhood.
 z Incidence:
It has been estimated that the incidence of hemodynamically significant
congenital cardiac abnormalities is about 0.8% of live births: (Table 1)
% of all congenital
Lesion
heart defects

Ventricular septal defect 30

Atrial septal defect 10
Persistent ductus arteriosus 10
Pulmonary stenosis 7
Coarctation of aorta 7
Aortic stenosis 6
Tetralogy of Fallot 6
Complete transposition of great arteries 4
Others 20
Table 1 - Incidence and relative frequency of congenital cardiac malformations (4)
 z Etiology: (1,4,5)

Among the important causes of CHD are maternal infection and exposure to
drugs or toxins. Maternal infection like rubella infection is associated with
persistent ductus arteriosus (PDA), pulmonary valvular and/or artery
stenosis, and atrial septal defect (ASD).

20% of congenital heart defects are associated with genetic or chromosomal

abnormalities, and the most common one is Down syndrome (trisomy 21)
associated with ventricular septal defect, and Turner syndrome (45, X) with
aortic coarctation, aortic stenosis, and atrial septal defect.
 z Clinical Features in general:
Birth and neonatal period
• Cyanosis • Heart failure
Infancy and childhood
• Cyanosis • Murmur
• Heart failure • Failure to thrive
• Arrhythmia • Growth retardation and learning difficulties
Adolescence and adulthood
• Heart failure • Complications of previous cardiac surgery:
• Murmur • Arrhythmia related to scarring
• Arrhythmia • Heart failure secondary to scarring
• Eisenmenger’s syndrome
• Hypertension (coarctation)
• Prolonged cyanosis is associated with finger and toe
clubbing
Pregnancy
• Cyanosis • Severe pulmonary hypertension
• Eisenmenger’s syndrome
Table 2 - General presentation of congenital heart disease (4)
 z Classification:
Congenital Heart Diseases

Acyanotic Cyanotic

L R Shunt Obstructive R L Shunt Other

Atrial septal defect Aortic stenosis (AS) Tetralogy of Fallot Transposition of great
Ventricular septal defect Pulmonary stenosis (PS) Epstein anomaly Vessels
Patent ductus arteriosus Coarctation of Aorta Tricuspid atresia
Pulmonary atresia

Figure 1 - Classification of CHD to Acyanotic and cyanotic defects (6)

 z Atrial Septal Defect (ASD)

It is a communication between the atria, which

represents the commonest cardiac anomaly that may
be first encountered in the adult and occurs more
frequently in females. (1)
Defects are classified according to location (Figure 2).
Ostium secundum ASDs are the most common type
(75%). Ostium primum defects located in the lowest
portion of the atrial septum (15-20%) and
commonly associated with endocardial cushion Figure 2 - Positions of various
atrial septal defects viewed from
defect. Sinus venosus defects (5-10%) are usually
the right side of the heart. (3)
located near the SVC or, rarely, near the IVC. (3)
 z

Diagnosis of ASD: (3,4)

The characteristic physical signs that are due to volume overload of the RV:
- Wide, fixed splitting of the second heart sound: fixed because the septal
defect equalizes left and right atrial pressures throughout the respiratory
cycle, and wide because of delay in right ventricular ejection (increased
stroke volume and RBBB).
- Systolic flow murmur over the pulmonary valve.
Echocardiography is a diagnostic method. It directly demonstrates the defect
and typically shows RV hypertrophy, RV dilatation, and PA dilatation.
By CXR, there will be Right heart enlargement, prominent PA, increased
pulmonary vascularity
 z

ASD type ECG Finding

Ostium secundum Incomplete RBBB, RA enlargement, right axis deviation

Ostium primum Left axis deviation, 1st-degree atrioventricular block

Sinus venosus Abnormal P axis

Table 3 - ECG findings among different types of atrial septal defects. (3,4)

Management of ASD: (3,4)

Atrial septal defects that are large enough to recognized clinically (pulmonary
flow is increased 50% above systemic flow) should be closed surgically.
A small ASD with no associated symptoms or right heart enlargement
(pulmonary systemic blood flow ratio <l.5:1) can be followed clinically and
monitored with echocardiography.
 z Ventricular Septal Defect (VSD)

It is the most common of all cardiac birth defects,

either as an isolated defect or as a component of
a combination of anomalies, and defined by their
location on the ventricular septum (Figure 3).
Embryologically, the interventricular septum has
two portions, membranous and muscular, most
common type of VSD is perimembranous,
comprising 80% of cases, occurring at the
junction of the two portions. Acquired VSDs may
also occur as a complication of septal myocardial Figure 3 - Positions of various
ventricular septal defects viewed
infarction. (1,3,4)
from the left side of the heart. (3)
 z

Diagnosis of VSD: (3,4)

Most congenital defects are small, cause no symptoms and close spontaneously
during childhood. A pansystolic murmur results from the flow from the high-
pressure LV to the low-pressure RV during systole. A small defect often produces
a loud murmur (maladie de Roger) in the absence of other hemodynamic
disturbance, conversely, softer murmur produced by a large defect.
VSD may present as cardiac failure in infants, murmur with only minor
hemodynamic disturbance in older children or adults, or, rarely, as
Eisenmenger’s syndrome.

Transthoracic echocardiogram (TTE) is the primary diagnostic test, that allows

the determination of location, size. and hemodynamic impact of the VSD,
 z

Small VSD has normal X-ray and ECG, whereas large VSD has features of RV
or RV/LV hypertrophy on ECG, with CXR findings of LA and LV enlargement,
increased pulmonary vascular markings; with PAH.

Management of VSD: (3,4)

Small VSDs require no specific treatment. Cardiac failure in infancy should be
treated medically with digoxin and diuretics. Persisting failure is an indication
for surgery.
Large VSDs with right-to-left shunt reversal and pulmonary arterial hypertension
(Eisenmenger syndrome) should not be closed as closure will result in clinical
deterioration.
 z Patent Ductus Arteriosus (PDA)
Ductus arteriosus is a connection between CCA

descending aorta and main pulmonary trunk BCA

SCA
near the origin of the left subclavian artery. If
aortic systolic and diastolic pressure exceeds
pulmonary pressure, aortic blood flows PDA
RPA
continuously down a pressure gradient into
LPA
the pulmonary artery and then returns to the
left atrium. Dilatation of left atrium and PT

subsequently the left ventricle occur, whereas

the right side of the heart becomes Figure 4 - Anatomy of a patent
progressively affected as pulmonary ductus arteriosus (PDA) (5)
hypertension develops (1,5) (Figure 4).
Diagnosis
z of PDA: (3,4)
Small shunts will be asymptomatic, but when the duct is large, growth and
development may be retarded. A continuous ‘machinery’ murmur is heard with
late systolic accentuation. If pulmonary vascular resistance increases,
pulmonary artery pressure may rise, causing Eisenmenger’s syndrome.
Clubbing and oxygen desaturation that affects the feet but not the hands. is
characteristic feature of an Eisenmenger PDA.
Echocardiography is the investigation of choice, large PDA has ECG features
of LA enlargement, LV hypertrophy; with PAH: RV hypertrophy, and on CXR,
cardiomegaly, increased pulmonary vascular markings; calcification of PDA.

Management of PDA: (3,4,7)

Closure of a patent ductus arteriosus is indicated for left-sided cardiac
chamber enlargement, Prostaglandin synthetase inhibitor (indomethacin or
ibuprofen) may be used, especially in the first week of life to induce closure.
 z Coarctation of Aorta
Narrowing or constriction of the lumen of the aorta (Figure 5),
most commonly distal to the origin of the left subclavian
artery. More common in males, and is frequent in patients Defect

with gonadal dysgenesis (e.g., Turner’s syndrome). (1,3)

Headaches may occur, and weakness or cramps in the
legs may result from decreased circulation distal to it.
Increased BP in the upper body but normal or low in the
legs. Weak femoral pulses and radio-femoral delay.
Posteriorly a systolic murmur is usually heard, over the
coarctation. MRI is the investigation of choice. (4,7) Figure 5 – Location of
coarctation of aorta.
Management: Standard treatments involve surgical
decompression and percutaneous balloon aortoplasty or
stenting. (3,4,7)
 z Tetralogy of Fallot (TOF)
It is the most common cyanotic malformation, Pulmonary stenosis
(Infundibulum)

characterized by superior and anterior displacement

of the subpulmonary infundibular septum, which
causes the tetrad of pulmonary stenosis, aortic (2) Overriding
Aorta
override, VSD, and RV hypertrophy (Figure 6). This
combination results in elevated RV pressure and (1) Pulmonary
Stenosis (Valvular)

right-to-left shunting of cyanotic blood across the

(3) VSD

ventricular septal defect into the aorta. (4,5). (4) RV

Hypertrophy

Diagnosis of TOF: (4,7) Figure 6 – Tetralogy of

Cyanosis is the most common symptom, suddenly Fallot. (4)
increasing, often after feeding or a crying attack, and
may become apneic and unconscious.
 z
These attacks are called "Fallot’s spells", which are uncommon in older
children, but cyanosis becomes increasingly apparent, with stunting of growth,
digital clubbing and polycythemia. Fallot’s sign, is the relief of symptoms by
squatting after exertion. Crescendo–decrescendo murmur is heard best at the
left upper sternal border. Acyanotic tetralogy of Fallot called when there is
only mild right ventricular outflow obstruction without cyanosis.
Echocardiography is the diagnostic modality of choice. ECG may show
enlarged RA and RV, and classically boot-shaped heart shown on CXR.

Management of TOF: (4,7)

Total correction of the defect by surgical relief of the pulmonary stenosis and
closure of the VSD is the definitive management. Sudden cardiac death and
heart failure are the most common causes of death.
 z Other Congenital Diseases
Include:
- Transposition of Great Vessels: Aorta arises rightward anteriorly from the
RV, and pulmonary artery emerges leftward and posteriorly from the LV. (1,4)
- Pulmonary Stenosis: Obstruction to RV outflow may be supravalvular,
valvular, or subvalvular levels or occur at a combination of these sites. (1)
- Aortic Stenosis: Obstruction of the LV outflow tract at, below, or above
the aortic valve. (5)
- Pulmonary Atresia: Complete obstruction to the RV outflow tract with
varying degrees of RV and tricuspid valve hypoplasia. (8)
- Tricuspid Atresia: It is atresia of the tricuspid valve, and hypoplasia of the
RV and pulmonary artery (1,4,5).
- Ebstein’s Anomaly: It is downward displacement of the tricuspid valve
into the RV (1).
 z Conclusion
Congenital heart diseases are defects in the structure of the heart, they are most
common type of birth defect, can involve the walls of the heart, valves, and the
arteries and veins near the heart. CHD classified into cyanotic and acyanotic
diseases. The most common congenital defect in the adult is atrial septal defect.
Although the ventricular septal defect is the most common among all defects.
CHD presented with variety of signs and symptoms which can be diagnosed by
ECG, X-Ray, Echocardiography and MRI, and if not treated causes serious
complication even death. Treatment include medical, surgical, or heart
transplants. They required long life flow up.
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