Congenital Heart Disease

Congenital heart disease occurs when the heart or blood vessels entering or leaving the heart do not develop normally during fetal development. Some infants are born with mild types of congenital heart disease that do not become apparent until later in life, but others need surgery as newborns or infants in order to survive. Congenital heart disease is the most common birth defect.

Congenital heart disease is often divided into two types:

  • Cyanotic (blue skin color caused by a lack of oxygen)
    • Ebstein’s anomaly
    • Hypoplastic left heart
    • Pulmonary atresia
    • Tetralogy of Fallot
    • Total anomalous pulmonary venous return
    • Transposition of the great vessels
    • Tricuspid atresia
    • Truncus arteriosus
  • Non-cyanotic
    • Aortic stenosis
    • Atrial septal defect (ASD)
    • Atrioventricular canal (endocardial cushion defect)
    • Coarctation of the aorta
    • Patent ductus arteriosus (PDA)
    • Pulmonic stenosis
    • Ventricular septal defect (VSD)

Symptoms depend on the condition. Although congenital heart disease is present at birth, the symptoms may not appear right away. Defects such as coarctation of the aorta may not cause problems for many years. Other problems, such as a small ventricular septal defect (VSD), may never cause any problems. Some people with a VSD have a normal activity level and lifespan.

Causes of Congenital Heart Disease

In the majority of the instances when a baby is born with congenital heart disease, there is no known reason for the heart to have formed improperly. Scientists know that some types of congenital heart defects can be related to an abnormality of an infant’s chromosomes (5 to 6 percent), single gene defects (3 to 5 percent), or environmental factors (2 percent).

Some heart defects may be genetic, while others are the result of chromosomal abnormalities such as Down’s syndrome or Turner’s syndrome. Maternal intrauterine viral infection, such as rubella, or taking certain kinds of medications during pregnancy can contribute to congenital heart disease. Consanguineous marriages, or marriages between close relatives, which are common in many regions of the world, are also a risk factor that can lead to children with congenital heart defects. Studies have found that the occurrence of congenital abnormalities, as well as other problems such as mental retardation and physical handicap, was significantly higher in the children of consanguineous than in non-consanguineous marriages.


While congenital heart diseases, if untreated, will often lead to early death in infants and children, the advancement of pediatric cardiology has significantly improved the outcomes for children born with heart diseases. Treatment or surgery can have dramatic results in children’s lives, and most forms of CHD can now be corrected or improved. Advances in technology, improved diagnostic abilities, such as chest radiography, electrocardiograms, echocardiography, and cardiac catheterization, allow for better and earlier diagnosis of cardiac lesions. Non-surgical interventions have reduced the number of children who require surgical treatment for CHD. Improved surgical techniques also decrease the risk of death or serious complications for children who must undergo heart surgery.

Advancements in pediatric medicine have ensured that children born with CHD have a greater chance to lead healthy, normal lives than ever before.


Pregnant women should get good prenatal care and…

  • Avoid alcohol and illegal drugs during pregnancy.
  • Tell their doctor that they are pregnant before taking any new medicines.
  • Have a blood test early in the pregnancy to see if they are immune to rubella. If they are not immune, pregnant women should avoid any possible exposure to rubella and get vaccinated right after delivery.
  • Pregnant women who have diabetes should try to get good control over their blood sugar levels.

Certain genes may play a role in congenital heart disease. Many family members may be affected. Talk to your health care provider about genetic screening if you have a family history of congenital heart disease.