Congenital heart disease

Definition

Congenital heart disease is a problem with the heart's structure and function that is present at birth.

Causes

Congenital heart disease (CHD) can describe a number of different problems affecting the heart. It is the most common type of birth defect. Congenital heart disease causes more deaths in the first year of life than any other birth defects.

Congenital heart disease is often divided into two types: cyanotic (blue skin color caused by a lack of oxygen) and non-cyanotic. The following lists cover the most common congenital heart diseases:

Cyanotic:

• 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)  

These problems may occur alone or together. Most children with congenital heart disease do not have other types of birth defects. However, heart defects can be part of genetic and chromosome syndromes. Some of these syndromes may be passed down through families.

Examples include:

• DiGeorge syndrome
• Down syndrome
• Marfan syndrome
• Noonan syndrome
• Trisomy 13
• Turner syndrome

Often, no cause for the heart disease can be found. Congenital heart diseases continue to be investigated and researched. Drugs such as retinoic acid for acne, chemicals, alcohol, and infections (such as rubella) during pregnancy can contribute to some congenital heart problems.

Poorly controlled blood sugar in women who have diabetes during pregnancy has also been linked to a high rate of congenital heart defects.

Symptoms

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.

Exams and Tests

Most congenital heart defects are found during a pregnancy ultrasound. When a defect is found, a pediatric heart doctor, surgeon, and other specialists can be there when the baby is delivered. Having medical care ready at the delivery can mean the difference between life and death for some babies.

Which tests are done on the baby depend on the defect, and the symptoms.

Treatment

Which treatment is used, and how well the baby responds to it, depends on the condition. Many defects need to be followed carefully. Some will heal over time, while others will need to be treated.

Some congenital heart diseases can be treated with medication alone. Others need to be treated with one or more heart surgeries.

Prevention

Women who are expecting should get good prenatal care:

• Avoid alcohol and illegal drugs during pregnancy.
• Tell your doctor that you are pregnant before taking any new medicines.
• Have a blood test early in your pregnancy to see if you are immune to rubella. If you are not immune, 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.

References

Webb GD, Smallhorn JF, Therrien J, Redington AN. Congenital heart disease. In: Bonow RO, Man DL, Zipes DP, Libby P, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 9th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 65.

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