Congenital Heart Disease

Do you know how serious is Congenital Heart Disease?

A heart defect that develops within the mother’s womb and alters the structure of the baby’s heart is called congenital heart disease (CHD). In CHD, there is abnormal development of the heart and the blood vessels. The flow of blood through the heart is usually affected due to CHD.

As per Indian Pediatrics, the estimated number of children born with congenital heart disease in India is more than 200,000 per year. Of these, about one-fifth are likely to have serious defects, requiring medical attention in the first year of life.

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What are the Types of Congenital Heart Disease?

  • Atrial septal defect – A hole in the wall between the left and the right atria leads to the accumulation of blood into the right atrium.
  • Ventricular septal defect – A hole in the wall between the two ventricles results in extra blood flow into the right ventricle.
  • Hypoplastic left heart syndrome – A rare defect in which the left side of the heart doesn’t develop normally and is too small.
  • Tricuspid atresia – The tricuspid valve is not formed properly, resulting in the underdevelopment of the right pumping chamber.
  • Patent ductus arteriosus – The ductus arteriosus that connects the pulmonary artery and aorta does not close properly, leading to extra blood being pumped into the lungs.
  • Pulmonary valve stenosis – Narrowing of the pulmonary valve causes the right heart chamber to work harder to push blood to the lungs.
  • Aortic valve stenosis – Flow of blood throughout the body is affected due to narrowing of the aortic valve.
  • Tetralogy of Fallot – Rare combination of several heart defects, namely:
    • Ventricular septal defect
    • Pulmonary valve stenosis
    • Right ventricular hypertrophy – Thickening of the right ventricular muscle.
    • Overriding aorta – Aorta is not located in its usual position.
  • Other types –
    • Coarctation of aorta
    • Double–outlet right ventricle
    • Ebstein’s anomaly
    • Total anomalous pulmonary venous connection
    • Truncus arteriosus
    • Hypoplastic left heart syndrome


CHD occurs when the heart of the baby does not develop normally within the mother’s womb.
The abnormality happens due to genetic mutations, changes in chromosomes, or other environmental factors.
The exact etiology of CHD is unknown as it is rarely caused by genes that are inherited from parents.

Risk factors:

  • Family history – Though rare, the risk of the child getting CHD is increased if the parents have CHD.
  • Genetic conditions – Children with Down’s syndrome, Turner syndrome, and Noonan syndrome are more likely to develop CHD.
  • Maternal diabetes – Women with type 1 and type 2 diabetes have a higher risk of giving birth to a baby with CHD.
  • Alcohol – Consuming alcohol during pregnancy leads to the development of fetal alcohol syndrome that is associated with CHD.
  • Other medical conditions – Rubella infection during the first 8 to 10 weeks of pregnancy and flu during the first trimester increases the risk of having a baby with CHD.
  • Medications – Consumption of anti-seizure medications, acne medications, ibuprofen, and other medications during the first trimester is linked to an increased risk.
  • Phenylketonuria (PKU) – Pregnant women with PKU are more likely to give birth to a baby with CHD.
  • Environmental factors – Smoking, secondhand exposure to smoke, and exposure to organic solvents during pregnancy increases the risk of giving birth to a baby with CHD.
  • Gender – CHD is most frequently seen in boys at birth as compared to girls.

What are the Signs and symptoms of Congenital Heart Disease?

  • Cyanosis
  • Fatigue
  • Heart murmurs
  • Poor blood circulation
  • Rapid breathing
  • Underdeveloped limbs and muscles
  • Shortness of breath


  • Arrhythmia
  • Blood clots
  • Developmental disorders
  • Emotional health issues
  • Endocarditis
  • Endocrine disorders
  • Kidney disease
  • Pneumonia
  • Pregnancy complications
  • Pulmonary hypertension
  • Stroke

How is Congenital Heart Disease diagnosed?

  • The physician examines the newborn for the Signs of heart defect, general appearance, and the baby’s heart sounds.
  • Diagnostic tests –
    • Echocardiography (echo) – Most CHDs can be diagnosed prenatally by fetal echocardiography during the second trimester of pregnancy.
    • Fetal electrocardiogram (ECG)
    • Chest x-ray
    • Cardiac Magnetic Resonance Imaging (MRI)
    • Cardiac catheterization – To determine how the blood is being pumped through the heart.
    • Genetic testing – To determine if any genetic syndrome or particular gene is responsible for CHD.
    • Pulse oximetry – To measure the amount of oxygen present in the blood.

Treatment: How is Congenital Heart Disease treated?

  • Mild heart defects usually don’t require any treatment, but the baby’s condition is monitored throughout adult life. 
  • Treatment is generally done to relieve the symptoms and stabilize the condition before and after the surgery.
  • Surgical procedures – 
    • Heart transplant – Children with complex CHD that cannot be repaired undergo this procedure.
    • Palliative surgery – A shunt is installed in babies with only one ventricle to improve oxygen levels till the heart defects are fully repaired.
    • Ventricular assist device – This device supports the functioning of the heart until heart transplantation.
    • Total artificial heart – An artificial heart is installed permanently to replace the heart if heart transplantation is impossible.
  • Cardiac catheterization – To repair simple heart defects like an atrial septal defect and patent ductus arteriosus by opening up the narrowed valves or blood vessels.
  • Medications – 
    • Diuretics – Bumetanide, furosemide, etc., to remove fluid from the body and make breathing easier.
    • Anticoagulants – Aspirin, warfarin, etc., to decrease the clotting tendency.
    • Digoxin – To lower the heartbeat and enhance the heart’s pumping function.
    • Indomethacin or ibuprofen – To constrict or tighten the patent ductus arteriosus and cause it to close.
    • Acetaminophen – To close the patent ductus arteriosus.
    • Other drugs – Antibiotics, anti-arrhythmic drugs, beta-blockers.

Prevention: how it can be prevented?

  • Living with CHD –
    • Have regular checkups.
    • Take medications to prevent complications.
    • Heart-healthy diet.
    • Maintaining a healthy weight.
    • Increasing physical activity.
  • Preventing CHD –
    • Vaccinate the mother against Rubella and flu.
    • Consume Folic acid supplements during the first trimester of pregnancy.
    • Avoiding exposure to organic solvents during pregnancy.
    • Avoiding alcohol or medicines that are not safe to take during pregnancy.

When to see a doctor? :

Consult immediately with a pediatric cardiologist if the baby experiences shortness of breath during feeding. If the older children and adults experience this during exercise, consult with an adult congenital heart specialist or cardiologist. The average cost of cardiac catheterization ranges from Rs. 16,000 to Rs. 20,000.

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