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Definition

There are 150,000-200,000 children born each year with congenital heart disease in India. Many will die undiagnosed; some will be diagnosed but allowed to die anyway due to lack of medical facilities nearby or inability to afford medical treatment; and yet others will reach the appropriate hospital but at a stage too late to intervene.

Types

Congenital heart defects are genetic and are sometimes associated with defects in other parts of the body. Consanguinity (parents related to each other) and exposure to certain drugs, viruses on X-rays during pregnancy may be causative factors. Congenital heart disease may be broadly classified into acyanotic and cyanotic congenital heart disease.

Acyanotic Heart Diseases

The common acyanotic (not blue) conditions are Atrial Septal Defects (ASD), Ventricular Septal Defect (VSD), Patent Ducturs Arteriosus (PDA) and Coarctation of Aorta.

The normal human heart has 4 chambers (2 atria and 2 ventricles). ASD is a communication between 2 artria, VSD between 2 ventricles and PDA is a communication between aorta and pulmonary artery. Coarctation is a narrowing of the aorta.

Most of the aforementioned conditions can be readily diagnosed by astute physicians. The following are symptoms (what the parents / children complain) and signs (what the doctor identifies on examination), which may be present:

  • Failure to thrive (ASD, VSD, PDA)
  • Recurrent lower respiratory tract infections
  • Signs of heart failure (children with large VSD and / or PDA), which in an infant may manifest as poor feeding, breathlessness, easy fatigability and excessive sweating. They are usually not blue.

Some conditions are diagnosed when the child visits the doctor for some other problem. "Murmurs" are sounds heard with a stethoscope placed on the chest. These alert the doctor to the possibility of the child having a heart defect. Not all murmurs are serious but should be evaluated by medical personnel.

Some conditions may be genetic and inherited or associated with non-cardiac problems. Babies born with Down's syndrome will have higher incidence of heart disease.

Cyanotic Heart Diseases

In this group of diseases, due to the cardiac defect, the oxygen levels in the blood are not optimal and hence, the child appears blue (cyanotic). There are quite a few conditions which cause this. The commonest are Tetralogy of Fallot (blood flow to the lungs is obstructed and there is a large VSD through which blood is allowed to bypass the lungs without oxygenation) and Transposition of the Great Arteries. These children are born blue (finger, toes, lips) or become cyanotic early in life. Many will die in the first year of life if they do not reach specialized centers in time for surgery.

Diagnosis

Pediatricians and pediatric cardiologists are most likely to see the child first and diagnose the cardiac problem. Clinical examination by the doctor guides him to a diagnosis. Baseline investigations such as X-ray of the chest and ECG substantiate the diagnosis. Echocardiography (ultrasound of the heart) confirms the diagnosis in most instances. This provides sufficient data for the cardiologist and /or cardiac surgeon to decide on the treatment. Additional data may be obtained by other investigations such as 64-slice CT Angiogram, cardiac MRI, cardiac catheterization and Angiography.

Treatment

The treatment modalities are:

  • Medical
  • Cardiological interventions
  • Cardiac surgical procedures

The timing of intervention is critical. Conditions like Transportation of Great Arteries need to be tackled in the first 3 weeks of life ideally. Other conditions like large VSD's and PDA's may have to be done in the first year of life, preferably before 6 months. Condition like ASD can be tackled at 3.5 years of age. Children with Tetralogy of Fallot may require early surgery if they turn severely blue.

Some of the congenital anomalies can be treated without surgery - by methods devised by the international cardiologists. Not all patients may be ideal for this and many will require open heart surgery.

It is crucial to be aware of congenital heart disease and tackle it early as in most cases the outcome and prognosis depend on whether the intervention is one at the appropriate time. Conditions like VSD and PDA and even an ASD if not closed (either surgically, by the pediatric cardiologist) may eventually become life-threatening. Babies with cyanotic heart disease may die from lack of oxygenation of tissues. If ASD, VSD or PDA is not closed in time, the pressure of blood flowing to the lungs may become so high that the child will be dubbed "inoperable" and thus condemned to eventual death. Many will die from heart failure in infancy or from resultant lung infections (pneumonias). Children with Coarctation of Aorta can present with high blood pressure and if this is not intervened at an early stage they will suffer from lifelong hypertension and requirement of medications.

Parents - Be Aware!

  • All school-going children should undergo routine health check-up. Those with symptoms and signs of cardiac disease should be referred to cardiologists for further evaluation.
  • Parents of children with conge natal heart disease should be adequately counseled on the importance of regular follow-up and subjecting the children to intervention or surgery at the appropriate time.
  • Donations should be sought from organizations to fund the surgery for children who cannot afford it.
  • Though rheumatic heart disease is not congenital, it is a preventable condition. The same bacteria that cause sore throat can induce a response that can affect a child's heart and damage the valves permanently. Every child with sore throat should be evaluated by a physician and treated appropriately. Rheumatic fever should be identified and treated aggressively. These kids should be on penicillin injections.

A cardiac surgeon gets tremendous satisfaction when he touches a child's heart and has fixed up a "hole" or redirected the "plumbing". It is so gratifying when they come at an appropriate time for surgery, receive top-quality medical care and get cured. Many will be able to return to school in a month or two, play games in about 6 months and look forward to a satisfying, productive and normal life including marriage and starting a family of their own. Some of the sick infants we have treated are beyond recognition when they turn up for their third-month follow-up.

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