Congenital heart disease

Congenital heart disease is a medical term for structural heart defect due to faulty genes present at birth. Congenital heart disease comprises a variety of conditions ranging from mild up to life-threatening. In the UK, about 6 in every 1000 babies are born with a congenital heart defect.

In some people, the symptoms may be very subtle and their heart condition may be diagnosed only in adulthood (GUCH – grown-up congenital heart disease). However, in most affected children the problem will be apparent soon after birth on clinical examination and echocardiography, in extreme cases requiring urgent heart surgery. The most common symptoms include:

  • Low exercise tolerance, tiredness and breathlessness
  • Chest discomfort on exertion
  • Cyanosis (blue lips and tips of fingers)
  • Palpitations, dizzy spells and blackouts

The risk of congenital heart disease is increased in expectant mothers with history of congenital heart defect, with diabetes, certain infections during pregnancy (rubella), on some medications (ACE-inhibitors, antiepileptics). In most cases no obvious cause of congenital heart disease is apparent and the disease is caused by a new random genetic mutation.

Some of the more common types of the congenital heart disease are as follows: aortic stenosis, coarctation of the aorta, atrial septal defect, hypoplastic left heart, patent ductus arteriosus, pulmonary atresia, pulmonary stenosis, tetralogy of Fallot, transposition of the great arteries, tricuspid atresia, ventricular septal defect.

Three main types of the congenital heart disease are:

  • Septal defects – abnormal communication ("hole in the heart") between heart chambers leading to volume overload and extra pressure on the heart.
  • Obstructive defects – obstruction of the blood flow inside the heart making the heart work harder.
  • Cyanotic heart disease – usually combination of septal and obstructive defects leading to blood poor on oxygen being pumped around the body.


The prognosis in congenital heart disease depends on type and severity of the underlying problem. Most children can undergo surgery which will normalize heart’s function and enable them to lead active life. A long term follow-up under specialized cardiologists with interest in congenital heart disease with serial echocardiography may be required. Medication and in some cases, repeat surgery may be necessary.