Congenital heart disease

Congenital heart disease is a medical term for genetically determined structural heart defects present at birth. There are many types of congenital heart disease ranging from relatively benign up to life-threatening. About 6 in every 1000 babies are born with a congenital heart defect in the UK. The risk is increased in women with a history of congenital heart disease, diabetes, certain infections during pregnancy (e.g. rubella) or when taking some types of medication (e.g. ACE-inhibitors, antiepileptics). The risk also goes up with increasing maternal age. However, there is no obvious cause in most cases, and it is a new random genetic mutation that causes the disease.


In some patients, 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 the birth on clinical examination. The final diagnosis will be made with echocardiography, and in extreme cases, urgent heart surgery may be required.

The most common symptoms include:

  • - Low exercise tolerance, tiredness and breathlessness
Types of GUCH

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

Three main types of congenital heart disease are:

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

The prognosis in congenital heart disease depends on the type and severity of the underlying problem. Most children can undergo surgery, enabling them to lead an active life. Still, even after successful surgery, most children with congenital heart disease need a long-term follow-up under specialized cardiologists with serial echocardiography. Medication and, in some cases, repeat surgery, may be necessary.

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