Provided by A.D.A.M.


Overview
Definition
An abnormality of cardiac structure and function that develops during gestation and is present at birth.
Causes, incidence, and risk factors
Congenital heart disease (CHD) is a broad term that can describe a number of different abnormalities affecting the heart. Congenital heart disease is, by definition, present at birth although its effects may not be obvious immediately. In some cases, such as coarctation of the aorta, it may not present itself for many years and a few lesions such as a small Ventricular septal defect (VSD) may never cause any problems and are compatible with normal physical activity and a normal life span.

According to the American Heart Association, there are approximately 35,000 babies born each year with a congenital heart defect. Children born with congenital birth defects die more often in the first year of life than children with any other birth defect. There has been significant improvement in the risk of dying from congenital heart surgery, from approximately 30% in the 1960’s and 1970’s to approximately 5% today.Â
Congenital heart disease is often divided into two types: those with cyanosis (blue discoloration caused by a relative lack of oxygen) and those without cyanosis. The following lists cover the most common (but not all) of the congenital heart lesions:

Cyanotic:
1. Tetralogy of Fallot
2. Transposition of the great vessels
3. Tricuspid atresia
4. Total anomalous venous return
5. Truncus arteriosus
6. Hypoplastic left heart

Non-cyanotic:
1. VSD
2. Atrial Septal Defect (ASD)
3. Patent ductus arteriosus (PDA)
4. Aortic stenosis
5. Pulmonic stenosis
6. Coarctation of the aorta

These abnormalities may occur as single lesions or in combinations. VSD is the most commonly diagnosed congenital heart defect (about one third of all CHD) and is seen almost three times as often as ASD and PDA which are the next most common.

The majority of CHD occurs as an isolated defect and is not associated with other diseases. However, CHD is a part of various genetic and chromosomal syndromes. Examples are Down’s syndrome, Trisomy 13, Turner’s syndrome (XO), Marfan, Noonan syndrome, Ellis-van Creveld syndrome.

Drugs, chemicals, and infections during pregnancy may also produce congenital heart abnormalities. Fetal rubella, maternal alcohol use (fetal alcohol syndrome), and retinoic acid (for acne) are examples of infections, chemicals, and drugs that cause congenital heart disease.

Prevention
Avoid the use of alcohol and other drugs during pregnancy. Physicians should be made aware that a woman is pregnant before prescribing for any medications for her. The immune status for rubella should evaluated early in the pregnancy. If the mother is not immune she must avoid any possible exposure to rubella and should be immunized immediately following delivery.
There may be some hereditary factors that play a role in congenital heart disease. It is rare for more than one child in a family to have a congenital heart defect, but it has occurred. Experts believe that some prescription and over the counter medications, street drugs, and alcohol during pregnancy increase the risk of heart defects.Â
There is however, no definitive cause that can be identified to date for most congenital heart defects. Congenital heart disease continues to be investigated and researched.