Congenital Heart Disease

Question 1

What is congenital heart disease (CHD)?

Answer 1

Congenital heart disease refers to structural abnormalities of the heart or great vessels present from birth due to abnormal development during embryogenesis.

Question 2

What are the main types of congenital heart disease?

Answer 2

CHD can be classified as acyanotic (e.g., atrial septal defect, ventricular septal defect) or cyanotic (e.g., Tetralogy of Fallot, transposition of the great arteries).

Question 3

What are the common symptoms of acyanotic CHD?

Answer 3

Symptoms may include failure to thrive, recurrent respiratory infections, and signs of heart failure like breathlessness or fatigue.

Question 4

What are the typical symptoms of cyanotic CHD?

Answer 4

Cyanosis, digital clubbing, fatigue, and poor feeding in infants.

Question 5

What is the aetiology of congenital heart disease?

Answer 5

The exact cause is often unknown but can include genetic mutations, chromosomal abnormalities (e.g., Down syndrome), and environmental factors (e.g., maternal diabetes, rubella infection).

Question 6

What is the pathophysiology of acyanotic CHD?

Answer 6

It typically involves left-to-right shunting of blood, leading to volume overload in the pulmonary circulation and eventual pulmonary hypertension.

Question 7

What is the pathophysiology of cyanotic CHD?

Answer 7

Cyanotic CHD often involves right-to-left shunting, bypassing the lungs and resulting in deoxygenated blood entering systemic circulation.

Question 8

What are the risk factors for CHD?

Answer 8

Family history of CHD, maternal diabetes, maternal infections during pregnancy (e.g., rubella), teratogenic medications, and genetic syndromes.

Question 9

How does atrial septal defect (ASD) present clinically?

Answer 9

It may present with fatigue, breathlessness, a systolic murmur, and an increased risk of arrhythmias later in life.

Question 10

What is a ventricular septal defect (VSD)?

Answer 10

A defect in the interventricular septum that allows blood to flow from the left ventricle to the right ventricle, causing pulmonary overcirculation.

Question 11

What are the four components of Tetralogy of Fallot?

Answer 11

Ventricular septal defect, right ventricular hypertrophy, pulmonary stenosis, and an overriding aorta.

Question 12

How does patent ductus arteriosus (PDA) present?

Answer 12

PDA may cause a continuous “machinery” murmur, bounding pulses, and failure to thrive.

Question 13

What investigations are used to diagnose CHD?

Answer 13

Echocardiography, chest X-ray, ECG, pulse oximetry, and cardiac catheterisation.

Question 14

What are the clinical signs of cyanotic CHD?

Answer 14

Central cyanosis, digital clubbing, failure to thrive, and polycythaemia.

Question 15

How is transposition of the great arteries diagnosed?

Answer 15

Diagnosis is typically made using echocardiography, which reveals parallel orientation of the great arteries.

Question 16

What is Eisenmenger syndrome?

Answer 16

A condition where a long-standing left-to-right shunt reverses to a right-to-left shunt due to pulmonary hypertension, causing cyanosis.

Question 17

What is the management of patent ductus arteriosus (PDA)?

Answer 17

Management may include nonsteroidal anti-inflammatory drugs (e.g., indomethacin) to close the PDA or surgical ligation.

Question 18

What is the treatment for severe cyanotic CHD?

Answer 18

Initial stabilisation with prostaglandin E1 to maintain ductal patency, followed by surgical correction or palliation.

Question 19

What is the role of prostaglandin E1 in managing CHD?

Answer 19

It maintains ductus arteriosus patency in conditions requiring mixing of oxygenated and deoxygenated blood (e.g., transposition of the great arteries).

Question 20

What is coarctation of the aorta?

Answer 20

A narrowing of the aorta, typically just distal to the origin of the left subclavian artery, leading to upper limb hypertension and lower limb hypotension.

Question 21

How is coarctation of the aorta treated?

Answer 21

Treatment options include balloon angioplasty or surgical repair.

Question 22

What are the complications of untreated CHD?

Answer 22

Heart failure, pulmonary hypertension, arrhythmias, infective endocarditis, and Eisenmenger syndrome.

Question 23

What lifestyle advice should be given to a patient with CHD?

Answer 23

Regular follow-up, endocarditis prophylaxis when indicated, avoiding smoking, and adhering to prescribed medications or activity limitations.

Question 24

What are the clinical features of Tetralogy of Fallot?

Answer 24

Cyanosis, “tet spells” (sudden cyanosis episodes), systolic murmur, and clubbing in older children.

Question 25

Why is early diagnosis of CHD important?

Answer 25

Early diagnosis enables timely management to prevent complications, improve quality of life, and reduce mortality.