Congenital heart disease

Definition

Congenital heart disease refers to a problem with the heart's structure and function due to abnormal heart development before birth. Congenital means present at birth.

Causes, incidence, and risk factors

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 is responsible for more deaths in the first year of life than any other birth defects. Many of these defects need to be followed carefully. Some heal over time, others will require treatment.

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

Cyanotic:

• Tetralogy of Fallot
• Transposition of the great vessels
• Tricuspid atresia
• Total anomalous pulmonary venous return
• Truncus arteriosus
• Hypoplastic left heart
• Pulmonary atresia
• Some forms of total anomalous pulmonary venous return
• Ebstein's anomaly

Non-cyanotic:

• Ventricular septal defect (VSD)
• Atrial septal defect (ASD)
• Patent ductus arteriosus (PDA)
• Aortic stenosis
• Pulmonic stenosis
• Coarctation of the aorta
• Atrioventricular canal (endocardial cushion defect)

These problems may occur alone or together. The majority of congenital heart diseases occurs as an isolated defect and is not associated with other diseases. However, they can also be a part of various genetic and chromosomal syndromes such as Down syndrome, trisomy 13, Turner syndrome, Marfan syndrome, Noonan syndrome, and DiGeorge syndrome.

No known cause can be identified for most congenital heart defects. 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.

Symptoms

Symptoms depend on the specific condition. While congenital heart disease is present at birth, the symptoms may not be immediately obvious. 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, and some people with a VSD have normal physical activity and a normal life span.

Signs and tests

Diagnostic tests depend on the specific condition.

Treatment

Treatment depends on the specific condition. Some congenital heart diseases can be treated with medication alone, while others require one or more surgeries.

Expectations (prognosis)

How well a patient does depends on the specific defect.

Complications

Complications depend on the specific condition and treatment.

Calling your health care provider

Call your health care provider if you suspect that your child has a heart problem.

Prevention

Avoid alcohol and other drugs during pregnancy. Doctors should be made aware that a woman is pregnant before prescribing any medications for her. A blood test should be done early in the pregnancy to see if the woman is immune to rubella. If the mother is not immune, she must avoid any possible exposure to rubella and should be immunized immediately following delivery.

Poorly controlled blood sugar levels in women who have diabetes during pregnancy are also associated with a high rate of congenital heart defects during pregnancy.

Experts believe that some prescription and over-the-counter medications and street drugs used during pregnancy increase the risk of heart defects.

There may be some hereditary factors that play a role in congenital heart disease. Genetics does appear to play a role in many diseases, and multiple family members may be affected. Talk to your health care provider about screening.

Expectant mothers should receive good prenatal care. Many congenital defects can be discovered on routine ultrasound examinations performed by an obstetrician. The delivery can then be anticipated and the appropriate medical personnel (such as a pediatric cardiologist, a cardiothoracic surgeon, and a neonatologist) can be present, and ready to help as necessary. Such preparation can mean the difference between life and death for some babies.

References

Zipes DP, Libby P, Bonow RO, Braunwald E, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 8th ed. St. Louis, Mo; WB Saunders; 2007.