Congenital Heart Disease is one of the most common birth defects worldwide, affecting approximately 8–10 out of every 1,000 live births. In India alone, nearly 2.4 lakh children are born each year with CHD, with the Telugu States accounting for around 20,000 cases annually. While the exact cause remains unknown in nearly 85% of cases, genetic factors contribute to 10–15% of occurrences. The encouraging fact is that early detection and timely intervention, particularly within the first year of life, can greatly improve survival and long-term outcomes.
The human heart develops rapidly during early pregnancy, with the four chambers forming by the fourth week and full development by the twelfth week. Any disturbance during this critical period can lead to structural abnormalities. Common defects include septal defects (holes in the heart), valve malformations, chamber anomalies, and issues with major blood vessels.
Recognising Warning Signs
Infants with CHD may show signs such as breathlessness, poor feeding, fatigue, recurrent respiratory infections, sleep disturbances, or bluish discoloration of lips, tongue, or nails (cyanosis). Children with valve defects may also display low activity levels or lack of interest in play. Parents should consult a paediatric cardiologist if any of these signs are observed, with echocardiography serving as the gold standard for diagnosis.
Newborn pulse oximetry screening, routinely used in many developed countries, is a simple, non-invasive test that measures oxygen levels and can help detect underlying heart defects early.
Causes and Risk Factors
CHD arises from a combination of genetic and environmental factors:
- Genetic abnormalities: Conditions like Down syndrome can disrupt normal heart development.
- Maternal infections: Rubella during the first trimester significantly increases CHD risk.
- Diabetes: Poorly controlled maternal diabetes elevates the risk.
- Medications: Drugs such as lithium and isotretinoin may contribute to defects.
- Lifestyle factors: Smoking, alcohol consumption, and nutritional deficiencies (especially folic acid and vitamin B12) during pregnancy.
- Consanguinity: Children born to blood-related parents face higher CHD risk, with studies suggesting 40–50 affected per 1,000 births in such families.
The Way Forward
While not all congenital heart defects are preventable, they are increasingly treatable when detected early. Promoting public awareness, ensuring proper antenatal care, adequate nutrition, vaccination, newborn screening, and timely referrals to specialized cardiac centres can save thousands of young lives each year. Congenital Heart Defects Awareness Week, observed from February 7–14, underscores the importance of early detection, timely treatment, and protection of fragile hearts.