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What is Congenital Heart Defect? CHD Diagnosis & Treatments


Approximately 150,000 to 200,000 children with congenital heart diseases are born in India each year. Many will die without a diagnosis, while others will die after being diagnosed due to the inaccessibility of medical care. Others will only seek medical care after it is too late, especially those outside the major cities.

Congenital heart defects are caused by genetic factors, and are often correlated with defects in other parts of the body. They can be caused by consanguinity (when the parents are related to each other), exposure to certain drugs, or the mother’s exposure to viruses via X-rays during pregnancy. Congenital heart diseases can be divided into acyanotic and cyanotic congenital heart diseases.


Acyanotic Heart Diseases

Common acyanotic conditions include Atrial Septal Defects (ASD), Ventricular Septal Defect (VSD), Patent Ducturs Arteriosus (PDA) and the Coarctation (narrowing) of Aorta.

These conditions can easily be diagnosed by experienced physicians. The corresponding symptoms include failure to thrive (ASD, VSD, PDA), recurrent lower respiratory tract infection, and signs of heart failure (children with large VSD and/or PDA), which can be manifested as poor appetite, breathlessness, fatigue and excessive sweating.

Some of these conditions are diagnosed when the child seeks medical treatment for other problems. While not all ‘murmurs’ (the sounds heard when a stethoscope is placed on the chest) are serious, the doctor should actively consider the possibility of a heart defect.

Acyanotic heart diseases may be inherited via genetics, or correlate with non-cardiac problems. Children with Down’s syndrome will experience a greater incidence of heart disease.


Cyanotic Heart Diseases

Cyanotic Heart Diseases occur when blood oxygen levels are sub-optimal, due to cardiac defects. As such, the child appears blue (cyanotic). This can occur due to Tetralogy of Fallot (where the flow of blood to the lungs is obstructed due to a large VSD), or the Transposition of the Great Arteries. Children with these conditions are born with blue finger, toes, and lips, or become cyanotic early on. Without specialized care, most will die in their first year of life.



A child’s cardiac problems will probably be diagnosed by a paediatrician or a paediatric cardiologist. Cardiac problems can be detected via baseline investigations, e.g. an X-ray of the chest. An echocardiography (ultrasound of the heart) is typically used to confirm a diagnosis, since it provides sufficient data for the cardiologist to determine a method of treatment. Further data can be gained via a 64-slice CT Angiogram, cardiac MRI, cardiac catheterization and Angiography.



Treatment modalities include medical modalities, cardiological interventions, and cardiac surgical procedures.

These interventions needed to be time precisely to be effective:

  • Transportation of Great Arteries (first 3 weeks of life)
  • VSD's and PDA's (first year of life, preferably before the baby is 6 months old)
  • ASD (3.5 years)
  • Tetralogy of Fallot (may require early intervention if the baby turns extremely blue)

While some congenital anomalies can be treated without performing surgery, this may not be ideal for most patients. Many patients require open heart surgery.

Early awareness of congenital heart diseases is crucial, since many conditions (e.g. VSD, PDA, ASD) can quickly become life-endangering. If an early intervention is not sought, the pressure of blood flow to the lungs may be too high, making the child ‘inoperable’ and thus fated for death. Children with congenital heart diseases often die from resultant lung infections (pneumonias), while those with Coarctation of Aorta may suffer from lifelong hypertension if not treated early.


Parents - Be Aware!

Once enrolled in school, children should seek regular health check-ups. Parents should ensure that they seek sufficient medical counsel from a cardiologist, and that their children have access to the necessary interventions at the appropriate time. Parents who cannot afford the cost of medical treatment should seek financial assistance via donations.

While rheumatic heart diseases are not congenital, they are easily preventable. Bacteria causing sore throats can also cause damage to the valves of the heart. As such, children with sore throats should be treated appropriately – especially if the condition escalates into a rheumatic fever.

Our team of paediatric cardiac surgeons, paediatric cardiologists, paediatric anaesthetists and intensivists are dedicated to providing top-notch medical care to children. The experience of ‘fixing’ a child’s heart problems often provides a cardiac surgeon with inordinate satisfaction.


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