Congenital Heart Disease: what it is and how we fight it?

The term 'congenital heart disease' refers to a structural or functional abnormality of the heart or the vascular system that is present at birth. These diseases are usually due to a genetic defect, but are sometimes the result of maternal infections such as rubella or the introduction of toxins such as alcohol. In some cases, depending on the type of defect, the newborn child may be seriously ill at birth. With other cases, the symptoms and signs of heart disease appear later in life. The most common symptoms are difficulty in breathing and/or feeding, the failure to physically develop and, in some babies, a bluish discolouration of the lips, tongue and nails.

The commonest congenital heart disease is a communication or 'leak' between the left and right ventricles of the heart, which are normally isolated from each other. This results in a 'hole' in the interventricular septum, called a ventricular septal defect, or VSD. Another common defect is communication between the atria (the receiving chambers of the heart). This is called an atrial septal defect, or ASD. A third defect is a communication between the aorta, the main artery carrying blood outflow from the heart and pulmonary artery (which normally closes at birth); this condition is called a persistent ductus arteriosus or PDA.

These three defects account for the great majority of congenital heart defects. Babies born with these defects are "pink" at birth and early closure of the defect leads to a complete cure.

More complex defects lead to so-called "blue" babies. Such defects include large VSD with severe pulmonary obstructions (called tetralogy of Fallot), transposition of the great arteries, called TGV, or anomalous drainage of the pulmonary veins, called TAPVD. There can be a variety of congenital heart defects involving combinations of such defects.

Prompt diagnosis by clinical examination, electrocardiography, chest X-rays and, most important, 2D echocardiography is the first step in the effective management of congenital heart disease. Once a precise anatomical and functional diagnosis is made, the timing of surgical treatment or medical management depends on the type and severity of the defect.

With modern diagnostic or surgical techniques over 75 percent of these congenital heart defects can be effectively treated, allowing the child to lead a normal life.