"HOLE IN THE HEART" DEFECTS

Congenital heart disease comprises a spectrum of defects of the heart present at birth. These defects occur during development of the normal heart in the womb even before babies are born. The crucial period of heart development is in the first 4 weeks of the heart development in womb when it changes from a simple tube like structure to form a complex efficient structure with a pump like action, valves and tubes that carry blood to the entire body and lungs. Although present at birth, on some occasions, congenital heart disease is picked up in later life. Dr Khambadkone will perform an echocardiography and electrocardiography personally and give a diagnosis and management plan at the end of the consultation. Rarely, additional tests such as X ray of the chest, Heart Rhythm monitoring, exercise testing, CT angiogram or Cardiac Magnetic Resonance Imaging may be necessary. These can vary from simple defects such as "holes in the heart", diseases of the valve , narrowing of arteries or complex abnormalities of connection and severe anomalies. Most common defects in the heart are “holes” (atrial or ventricular septal defects, patent ductus arteriosus) diagnosed with echocardiography, and treated by catheterization or surgery. ​Some factors are known to increase the risk of congenital heart disease however no obvious cause can be identified in most cases. Maternal diabetes, alcohol intake, infections during the first trimester are all high risk factors for congenital heart disease. Presence of genetic defects in babies such as Down syndrome, Williams syndrome, Noonan’s syndrome, Di George syndrome all have increased risk of congenital heart disease. The risk increases in siblings or children of those with congenital heart disease also suggesting a genetic basis.