Congenital Heart Disease Complete Guide Causes Types Diagnosis and Treatment

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Frequently Asked Questions

What is congenital heart disease?

Congenital heart disease (CHD) refers to structural or functional abnormalities of the heart or great vessels that are present at birth due to abnormal cardiac development during embryogenesis.

How common is congenital heart disease?

Congenital heart disease occurs in approximately 8–10 per 1,000 live births, making it the most common congenital anomaly worldwide.

What are the main types of congenital heart disease?

CHD is broadly classified into acyanotic defects (such as ASD, VSD, PDA), cyanotic defects (such as Tetralogy of Fallot, Transposition of Great Arteries), obstructive lesions (coarctation of aorta, aortic stenosis), and complex congenital heart diseases.

What causes congenital heart disease?

Causes include genetic factors, chromosomal abnormalities, maternal diabetes, maternal infections like rubella, teratogenic drug exposure, alcohol use, and multifactorial environmental influences.

What are the common symptoms of congenital heart disease in newborns?

Common symptoms include cyanosis, rapid breathing, poor feeding, failure to thrive, excessive sweating, lethargy, and signs of heart failure or shock.

What is duct-dependent congenital heart disease?

Duct-dependent CHD refers to defects where systemic or pulmonary circulation depends on a patent ductus arteriosus for survival, requiring prostaglandin E1 infusion to maintain ductal patency.

How is congenital heart disease diagnosed?

Diagnosis is made using clinical examination, pulse oximetry screening, echocardiography, ECG, chest X-ray, and advanced imaging such as cardiac MRI or cardiac catheterization when required.

Can congenital heart disease be detected before birth?

Yes, many congenital heart defects can be detected prenatally using fetal echocardiography, usually performed during the second trimester.

What is Eisenmenger syndrome?

Eisenmenger syndrome is a late complication of uncorrected left-to-right shunt lesions where long-standing pulmonary hypertension leads to reversal of the shunt and development of cyanosis.

How is congenital heart disease treated?

Treatment depends on the defect and may include medical management, catheter-based interventions, or surgical correction, along with long-term follow-up and supportive care.

Is surgery always required for congenital heart disease?

No, small defects may close spontaneously or remain asymptomatic, while moderate to severe defects usually require interventional or surgical correction.

What medications are commonly used in congenital heart disease?

Common medications include prostaglandin E1, diuretics, ACE inhibitors, beta blockers, antiarrhythmics, and anticoagulants depending on the condition and complications.

What are the long-term complications of congenital heart disease?

Long-term complications may include heart failure, arrhythmias, pulmonary hypertension, infective endocarditis, exercise intolerance, and need for re-intervention.

Can adults live with congenital heart disease?

Yes, most children with CHD now survive into adulthood due to advances in medical and surgical care, but many require lifelong follow-up in adult congenital heart disease clinics.

Is infective endocarditis prophylaxis required in congenital heart disease?

Endocarditis prophylaxis is recommended only for high-risk conditions such as unrepaired cyanotic CHD, prosthetic valves, or previous infective endocarditis.

Can women with congenital heart disease become pregnant?

Many women with CHD can have successful pregnancies, but pregnancy requires careful risk assessment and management by a multidisciplinary cardiac and obstetric team.

How can congenital heart disease be prevented?

Prevention includes good antenatal care, control of maternal illnesses, avoidance of teratogenic drugs, vaccination against rubella, genetic counseling, and early screening.

What is the prognosis of congenital heart disease?

Prognosis varies widely depending on the type and severity of the defect; simple lesions often have excellent outcomes, while complex CHD requires lifelong care.

MCQ Test - Congenital Heart Disease Complete Guide Causes Types Diagnosis and Treatment

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1 A 1-day-old neonate presents with severe cyanosis, metabolic acidosis, and shock. Oxygen saturation does not improve with 100% oxygen. Femoral pulses are weak.

Explanation:

Failure to respond to oxygen and presence of shock with weak pulses strongly suggest duct-dependent congenital heart disease requiring prostaglandin E1.

2 A newborn has profound cyanosis shortly after birth. Chest X-ray shows an egg-on-a-string appearance.

Explanation:

Egg-on-a-string appearance is classic for transposition of the great arteries due to narrow mediastinum.

3 A 4-month-old infant presents with heart failure, recurrent respiratory infections, and a harsh pansystolic murmur at the left lower sternal border.

Explanation:

Large ventricular septal defects cause early heart failure and recurrent infections due to significant left-to-right shunt.

4 A child with unrepaired VSD develops progressive cyanosis and clubbing over years.

Explanation:

Chronic pulmonary hypertension leads to reversal of shunt causing Eisenmenger syndrome.

5 A cyanotic child squats during episodes of breathlessness and fatigue.

Explanation:

Squatting increases systemic vascular resistance and reduces right-to-left shunting in Tetralogy of Fallot.

6 A neonate presents with severe cyanosis, respiratory distress, and pulmonary edema. Chest X-ray shows a snowman appearance.

Explanation:

Snowman sign is characteristic of supracardiac TAPVR, especially when obstructed causing pulmonary edema.

7 A child has differential cyanosis with pink upper limbs and blue lower limbs.

Explanation:

Reversal of shunt in PDA causes cyanosis limited to lower extremities.

8 A 12-year-old child has hypertension in the upper limbs and weak femoral pulses.

Explanation:

Coarctation of aorta causes radio-femoral delay and upper limb hypertension.

9 A neonate with tricuspid atresia survives due to which essential associated lesion?

Explanation:

Survival requires some form of shunt to allow mixing of blood.

10 A child with Down syndrome presents with early-onset heart failure and a loud holosystolic murmur.

Explanation:

AV septal defect is strongly associated with Down syndrome.

11 A neonate with severe cyanosis does not improve after prostaglandin E1 infusion.

Explanation:

Obstructed TAPVR is not duct-dependent and does not respond to prostaglandin therapy.

12 An untreated large ASD persists into adulthood.

Explanation:

Long-standing ASD leads to pulmonary hypertension and atrial arrhythmias in adulthood.

13 A cyanotic congenital heart disease patient develops secondary polycythemia.

Explanation:

Chronic hypoxemia stimulates erythropoiesis causing secondary polycythemia.

14 A patient with repaired Tetralogy of Fallot develops ventricular arrhythmias years later.

Explanation:

Chronic pulmonary regurgitation leads to RV dilation and ventricular arrhythmias.

15 A child with unrepaired cyanotic congenital heart disease is planned for dental extraction.

Explanation:

Unrepaired cyanotic congenital heart disease is a high-risk condition requiring infective endocarditis prophylaxis.

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