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Congenital heart disease

Definition:

An abnormality of cardiac structure and function which develops during gestation and is present at birth.

Causes, incidence, and risk factors:

Congenital heart disease (CHD) is a broad term which 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 VSD may never cause any problems and are compatible with normal physical activity and a normal life span.

Congenital anomalies are the leading cause of death in children under one year old. Of these fatal lesions CHD is the most prevalent. In the United States, deaths from congenital heart disease in 1991 were as follows:

  • less than 1 year old
- 17.6 deaths per 100,000 live births
  • 1 to 4 years ol
- 2.2 deaths per 100,000 live births
  • 5 to 14 years old
- 0.8 deaths per 100,000 live births

Deaths during the first year of life are, as expected, highest because severe cardiac abnormalities which are not correctable are generally not compatible with more than a few months of life. Deaths from congenital heart disease decrease dramatically after the first year. After the 14th year cardiac deaths begin to increase owing to causes other than congenital cardiac abnormalities.

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:
- Tetralogy of Fallot
- Transposition of the great vessels
- Tricuspid atresia
- Total anomalous venous return
- Truncus arteriosus
- Hypoplastic left heart

Non-cyanotic:
- VSD
- ASD
- PDA
- Aortic stenosis
- Pulmonic stenosis
- 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.

See the individual congenital lesions.

Adam

The information provided herein should not be used for diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Copyright 2000 adam.com, Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

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