Congenital Heart Disease

Congenital heart disease is a type of defect or malformation in one or more structures of the heart or blood vessels that occurs before birth.

These defects occur while the fetus is developing in the uterus and affect 8-10 out of every 1,000 children.

Congenital heart defects may produce symptoms at birth, during childhood and sometimes not until adulthood.

About 500,000 adults in the U.S. have congenital heart disease.

What Causes Congenital Heart Disease?

In the majority of people, the cause of congenital heart disease is unknown. However, there are some factors that are associated with an increased chance of getting congenital heart disease. These risk factors include:

• Genetic or chromosomal abnormalities in the child such as Down syndrome.
• Taking certain medications or alcohol or drug abuse during pregnancy.
• Maternal viral infection, such as rubella (German measles) in the first trimester of pregnancy.

The risk of having a child with congenital heart disease is higher if a parent or a sibling has a congenital heart defect -- the risk increases from eight in 1000 to 16 in 1000.

What Types of Congenital Heart Disease Are There?

The most common congenital heart problems include:

• Heart valve defects. Narrowing or stenosis of the valves or complete closure that impedes or prevents forward blood flow. Other valve defects include leaky valves that don't close properly and allow blood to leak backwards.
• Defects in the walls between the atria and ventricles of the heart (atrial and ventricular septal defects). These defects allow abnormal mixing of oxygenated and unoxygenated blood between the right and left sides of the heart.
• Heart muscle abnormalities that can lead to heart failure.

What Are the Symptoms of Congenital Heart Disease in Adults?

Congenital heart defects may be diagnosed before birth, right after birth, during childhood or not until adulthood. It is possible to have a defect and no symptoms at all. In adults, if symptoms are present, they may include:

• Shortness of breath.
• Limited ability to exercise.

How Is Congenital Heart Disease Diagnosed?

Congenital heart disease is often first detected when your doctor hears an abnormal heart sound or heart murmur when listening to your heart.

Depending on the type of murmur your doctor hears, he or she may order further testing such as:

• Echocardiogram or transesophageal echocardiogram (TEE)
• Intravascular ultrasound (IVUS)
• Cardiac catheterization
• Chest X-ray
• Electrocardiogram (ECG or EKG)
• MRI
• Positron emission tomography (PET) scan

How Is Congenital Heart Disease Treated?

Treatment is based on the severity of the disease. Some mild heart defects do not require any treatment. Others can be treated with medications, procedures or surgery. Most adults with congenital heart disease should be monitored by a heart specialist and take precautions to prevent endocarditis (a serious infection of the heart valves) throughout their life.

How Can I Prevent Endocarditis?

Those with congenital heart disease are at risk for getting endocarditis, even if the heart was repaired or replaced through surgery. To protect yourself:

• Tell all doctors and dentists you have congenital heart disease. You may want to carry a card with this information.
• Call your doctor if you have symptoms of an infection (sore throat, general body aches, fever).
• Take good care of your teeth and gums to prevent infections. See your dentist for regular visits.
• Take antibiotics according to the American Heart Association guidelines before you undergo any procedure that may cause bleeding, such as: any dental work (even a basic teeth cleaning), invasive tests (any test that may involve blood or bleeding), and most major or minor surgery. Check with your doctor about the type and amount of antibiotics that you should take.

Congenital Heart Disease in Children

There are several congenital heart defects that are detected and treated early in infancy. Most of them are abnormal connections among the veins, and arteries of the heart, and arteries ( such as the aortic and pulmonary arteries). These abnormal connections can allow unoxygenated blood to flow to the body instead of to the lungs, or allow oxygenated blood to flow to the lungs instead of to the body. They may also cause heart failure. Some examples of congenital heart disease in infants and children include:

• Patent ductus arteriosus (when blood bypasses the lungs preventing oxygen to circulate throughout the body).
• Tetralogy of Fallot (four different heart defects that occur together).
• Transposition of the great vessels (blood from the left side of the heart and right side of the heart intermix because the large artery connections are incorrect).
• Coarctation of the aorta (a pinched aorta).
• Heart valve problems.

What Are the Symptoms of Congenital Heart Disease in Infants and Children?

The symptoms of congenital heart disease in infants and children include:

• Cyanosis (a bluish tint to the skin, fingernails and lips).
• Fast breathing and poor feeding.
• Poor weight gain.
• Recurrent lung infections.
• Inability to exercise.

How Is Congenital Heart Disease in Children Treated?

Most defects will require surgery or an interventional procedure to repair the problem. Often children with congenital heart disease will also need treatment with medication to improve heart function as well.

Children and adults with congenital heart disease should be treated by a cardiologist who specializes in congenital heart disease. Some types of disease may require a team approach as the child grows into an adult.