Dr Vikas Kohli The commonest birth defect seen in infants and newborns are related to the heart. The abnormality is seen in almost 1 in 100 pregnancies. The diagnosis maybe made during pregnancy if an ultrasound detects the problem early. After birth, the diagnosis usually involves a pediatric doctor hearing a heart murmur. A heart murmur happens to be an abnormal heart sound. Once this is suspected, a cardiologist performs an echocardiogram and a confirmation of whether the murmur is from an abnormality in the heart or is an innocent murmur can be made. Innocent murmur is a murmur which though present is not associated with a heart abnormality i.e. The heart is innocent and normal though there is a murmur. This is a fairly common situation. If an abnormality is noted, often it is a condition of the heart which does not require immediate treatment or surgery. Occasionally the abnormality may warrant intervention or surgery. There are 2 main types of heart disease: one in which the baby turns blue and the ones in which the baby does not turn blue. Almost all conditions in which the baby turns blue require surgical treatment. For others there may at times not be a requirement for surgery or it may be treatable by balloon angioplasty or device closure. Both these methods are non-surgical methods. All major defects require surgery to be done. In the other condition the more common defect of the heart involves a “hole in the heart”. An isolated hole in the heart (which could be a ventricular or atrial defect), will require treatment. The hole is between chambers carrying red and blue blood (red signifying with oxygen and blue signifying without oxygen). The condition of isolated hole in heart should not be confused with conditions where hole is present associated with many other abnormalities in the heart, which have varying treatment and outlook. The outlook of children with hole in heart is very good, irrespective if it is closed by surgery or intervention. Many conditions now can be treated without surgery. The closure of such defects can be done by an angioplasty technique similar to the one in adults to place stents. The common problems in children include a hole between the lower chambers called Ventricular Septal Defect (VSD). The wall between the upper Atrial Septal Defect (ASD) and lower VSD chambers separates the red from the blue blood. A hole would result in extra blood flow to the lungs. This makes the child have more chest infections, child gains weight with difficulty and feeding also becomes a problem. On the other hand the child could be blue when in addition to a hole in heart there is a blockage of blood flow to the lungs. This is the commonest condition in which the baby becomes blue. Such conditions always require surgery to be done. Other defects in which the child becomes blue includes where the red blood from lung (with oxygen) drains abnormally into the blue blood; or, the tubes coming out of the heart carrying red and blue blood get switched whereby the body receives blue blood wrongly and the lungs get red blood. These conditions usually require a single operation and the child becomes normal. Finally, it is the condition when one of the valves or of the pump is not normal that the child requires more than one operation in lifetime of a patient and may affect the quality of life or the life span. Children may present in many ways when they have a birth heart defect, which parents may recognise or not as being abnormal. Commonest presentation in congenital heart disease includes: * A child may take too long to feed. A child may sweat while feeding, or may not gain weight in spite of feeding. The child also may have a faster breathing rate. * The child may appear blue. Sometimes they may gradually become bluer and reach a point where toddler may not be able to walk. *. Occasionally the child may present as an emergency. This may happen more so in the new born age group when the presentation may vary between: * A very blue baby *. A baby with low blood pressure or in shock *. A baby with very rapid breathing or breathing difficulty *. Older children may present with fainting episode which may be the only indicator of a major underlying heart problem. These conditions can occasionally be fatal and that may be the next time it may come to medical attention. This is referred to as an acute life threatening heart problem. These are electrical problems of the heart. A small child may not be able to verbalise what the problem is. * Sometimes the heart disease may not be picked up till late in life and such presentations are called adult presentation of congenital heart disease. With the current technology the early diagnosis can be made of heart disease in the 18th week of pregnancy. This test is called Fatal Echocardiogram. Specialised heart ultrasound machines are used for this test with advanced features like STIC or FETAL NAVIGATION. Once the diagnosis is made the family can be counselled for future treatment. (The author is Director and HoD BLK Children Heart Institute New Delhi)