Congenital Heart Disease (CHD) is the name given to any heart defect or malformation that is present at birth. Most types of CHD involve a deformity within the heart combined with or without a problem of the large blood vessels connected to the heart. In some patients, the defect or defects may be mild or unnoticed at birth and often diagnosed later in life. However, in others, the effects of the problem are so severe that diagnosis occurs either before birth or during the immediate newborn period.

CHD was once a relatively hopeless diagnosis with a terribly gloomy prognosis for many infants and children. In some cases it was a certain death sentence. In the last century considerable numbers of deaths were caused by CHDs making them also the most common cause of infant death from birth defects. The mortality rate varies significantly with the type of defect and a quarter of the fatalities in CHD occur in the first month of life.

Today, with the ever expanding realm of medical knowledge, expertise, personnel and technology available to so many patients, the outlook is more promising. Many children with a wide range of congenital heart defects are receiving treatment that enables them to live long, healthy, active and productive lives. During the more recent years, the overall death rate due to congenital heart disease has been steadily declining. Between 1979 and 1997, the death rate from all congenital heart defects declined 39 percent in the developed world and this trend has continued up to the present time.

Not all types of congenital heart diseases require treatment or urgent management from the time of diagnosis. Some mild congenital heart defects become less prominent with age and some types of defects repair themselves. For example, in cases of small ventricular septal defects, the "hole in the heart" often becomes smaller, eventually closing by itself, as the child grows. However, the majority of congenital heart conditions do need treatment and this varies depending on the type and complexity of the congenital defect. With the sophisticated medical technology now available for diagnosis and treatment, many babies born with congenital heart disease can go on to lead healthy, normal and full adult lives. The treatment of congenital heart disease has developed dramatically over the past 40 years. This can be illustrated using a condition called transposition of the great arteries as an example. In transposition of the great arteries, the two main arteries of the heart, the aorta and the pulmonary artery, are transposed, or switched, so that de-oxygenated rather than oxygenated blood is pumped around the body. Without treatment 90% of babies born with this condition die within 12 months.

In the early 1960’s treatment for transposition of the great arteries was revolutionised by the first ever interventional catheterisation technique, the balloon septostomy. This was superseded later that decade by an operation known as the Mustard or Senning procedure. This had excellent results and continued to be performed until the 1980’s. However, it became clear after long-term follow up, that while the stard/Senning operation gave babies with transposed great arteries a much better prognosis during childhood, morbidity and mortality in early adulthood were high. A new operation, the arterial switch, which gave a "complete anatomical repair", was introduced in the early 1990’s. This had much lower success rates to begin with, but was developed in the expectation of better late results compared to the Mustard/Senning treatment. This proved to be the case together with marked improvement in surgical survival. The arterial switch is now the standard treatment for babies born with transposition of the great arteries.

The most common congenital heart defect requiring medical intervention is a ventricular septal defect (14 to 16 percent). Other common defects include tetralogy of Fallot (9 to 14 percent), transposition of the great arteries (10 to 11 percent), coarctation of the aorta (8 to 11 percent) and atrial septal defects (about 5 per cent).

Treatment for congenital cardiac defects depends on a number of factors, including the type and severity of the defect, age of the patient and other related elements. Some defects require open cardiac surgical procedures to repair as much as possible of the defects and to restore the circulation back to normal. In some cases, multiple surgeries as staged planned procedures are needed to be performed to help balance the circulation.

Up until quite recently, the only solace available to children with congenital heart malformations was open heart surgery. This involved procedures described as major surgery with large scars over the chest. However, the advent and progress of minimally invasive interventional cardiac procedures over the last couple of decades has completely revolutionized the prospects for many children with congenital cardiac malformations. Many a defect, that earlier required open heart surgery, can now be dealt with quite satisfactorily with these modern techniques of interventional cardiology. The procedure generally involves the passage of a fine tube known as a cardiac catheter inserted through the skin into a vein or an artery in the periphery. The catheter is then guided and manipulated into the area of the heart that needs attention. In some procedures an inflatable balloon at the end of the catheter can be used to dilate and expand narrowed areas while in others, miniature devices could be manipulated to close abnormal communications and holes in the heart. Interventional cardiology now offers patients minimally invasive alternatives to surgery. The great advantages offered by these procedures are the avoidance of major open heart surgical procedures and almost unbelievable reduction in hospital stay periods. The overall expenses are also reduced by these procedures. However, some of the devices used in interventional cardiology are quite expensive. Yet for all that, the Sri Lankan government must be complimented on the fact that it provides all these services, including the expensive devices, completely free of charge to the needy children of our land.

Amazing types of reparative procedures can now be undertaken by interventional cardiology. Aortic stenosis or pulmonary stenosis may be treated by inflating a balloon–tipped catheter inside the narrowed valve to create a larger opening. Persistent ductus arteriosus can be closed by placing a stainless steel coil or other device inside the vessel and allowing it to close. Certain types of atrial septal defects can be closed by inserting a device or patch through a catheter and using it to cover the hole. A balloon–tipped catheter that expands, opening the narrowed pulmonary artery, can treat narrowing stenosis of the pulmonary artery. If balloon dilation is not effective, then a wire mesh metal tube known as a stent can be placed inside the narrow part and expanded to hold the vessel open. Coarctation or narrowing of the aorta can be treated through either balloon dilation or stenting. This latter procedure uses an artificial coil device to keep the narrowed area patent and of reasonably normal calibre.

Treatment of congenital

heart defects

in children

Certain characteristics of the defects however, make it impossible for an interventional procedure to be successful. If none of the catheter–based procedures were, or would be, effective, then surgery may be necessary. Surgery may either be palliative, which relieves symptoms but does not cause blood to flow normally, or reparative, which fixes the underlying problem. Examples of reparative surgery include closing certain types of ventricular septal defects (VSDs) and atrial septal defects (ASDs) with sutures or a patch made from either artificial material or the patient’s own tissue, repairing the atrioventricular valves and closing the VSDs and/or ASDs associated with these defects, widening the pulmonary valve and closing the VSD associated with Tetralogy of Fallot, switching the great arteries back to their normal position and repositioning the coronary arteries in children who have transposition of the great arteries and widening the narrowed aorta in children with coarctation of the aorta.

Examples of palliative surgery that is used to improve the patient’s condition, but which does not completely repair the heart defect include a modified Blalock-Taussig procedure where a tube is inserted to connect the aorta to the pulmonary artery to increase blood flow to the lungs, pulmonary artery banding to decrease blood flow to the lungs etc.

The final prospects for recovery in Congenital Heart Defects depend on several factors including the nature and severity of the abnormality, the functioning of the heart muscle, the condition of the patient before surgery and the availability of medical resources, infrastructure and appropriate treatment facilities. Careful assessments of all these aspects are undertaken before embarking on a given procedure. A lot of these facilities and expertise are now available in Sri Lanka.

However, in a small minority of cases, neither interventional cardiology nor open heart surgery can offer much hope for some complicated defects. The only alternative in such circumstances would be a heart transplant. In patients with some forms of CHD, such as hypoplastic left heart syndrome (HLHS), single ventricle etc., heart transplant surgery may be the only alternative. A heart transplant involves replacing the baby’s defective heart with a donated healthy heart. The baby’s eligibility for a transplant is determined by the results of blood tests and other specific factors relating to the baby’s health and potential for survival. In many of the developed countries, once that determination is made, he or she is entered into a computerized national waiting list. There is a shortage of heart donors, especially within the newborn population. Therefore, transplantation usually involves a long waiting period with no guarantees in which the infant is on "standby" for a suitable heart. Some patients’ hearts give out before a suitable donor heart can be found.

Even if a donor heart match is made, transplantation carries a risk of rejection and the early development of conditions such as coronary artery disease or lymphoma which is a cancer of the lymph nodes. Lifelong use of medication to prevent rejection and infection must be taken and these drugs tend to weaken the immune system. Lifelong medical management will be necessary and the long–term results for newborn transplantations are not yet completely known.

It is possible now to offer definitive treatment to a very large majority of children who are born with congenital cardiac malformations. Conditions that were hopelessly untreatable just a couple of decades ago are now eminently treatable and the defects correctible. Continuing progress in the fields of cardiology and cardiac surgery will offer hope to even more types of malformations in the future.

The most gratifying aspect of treatment of many of the congenital cardiac defects is that when treated appropriately, these children become quite normal and are projected to have an absolutely normal life and a normal life-span. For a doctor caring for children, there is no greater reward than to see these children recover and the grateful smiles on their faces as well as those of their parents. The author of this article, over a period of close to 40 years spent as a doctor, has seen the quite unbelievable, rapid and magical transformation of the many different modalities of treatment available for children with congenital cardiac defects. Some of the work undertaken by dedicated paediatric cardiologists and paediatric cardiac surgeons could even be described as being akin to performing miracles.