Causes

Researchers aren't sure what causes most congenital heart disease, which develops in the womb. Heredity might play a role in some congenital heart disease.

How the heart works

The heart is divided into two chambers on the right and two on the left. To pump blood through the body, the heart uses its left and right sides differently.

The right side of the heart moves blood to the lungs through certain blood vessels (pulmonary arteries). In the lungs, blood picks up oxygen and then returns to the left side through the pulmonary veins. The left side of the heart then pumps the blood through the aorta and out to the rest of the body.

Congenital heart disease can affect any of the heart's structures, including valves, chambers, the wall of tissue that separates the chambers (septum) and arteries.

Why congenital heart disease resurfaces in adulthood

For some adults, problems with their heart defects arise later in life, even if treated in childhood. Repairing defects improves heart function, but might not make the heart completely normal.

Even if the treatment you received in childhood was successful, a problem can occur or worsen as you age. It's also possible that problems in your heart, which weren't serious enough to repair when you were a child, have worsened and now require treatment.

Then there are complications of childhood surgeries to correct congenital heart disease that can occur later, such as scar tissue in your heart that contributes to an abnormal heart rhythm (arrhythmia).

Risk factors

Certain environmental and genetic risk factors might play a role in the development of your heart defect, including:

• German measles (rubella). Your mother having had rubella while pregnant could have affected your heart development.
• Diabetes. Your mother having type 1 or type 2 diabetes might have interfered with the development of your heart. Gestational diabetes generally doesn't increase the risk of developing a heart defect.
• Medications. Taking certain medications while pregnant can cause congenital heart and other birth defects. They include isotretinoin (Amnesteem, Claravis, others), used to treat acne; and lithium, used to treat bipolar disorder. Drinking alcohol while pregnant also contributes to the risk of heart defects.
• Heredity. Congenital heart disease appears to run in families and is associated with many genetic syndromes. For instance, children with Down syndrome often have heart defects. Genetic testing can detect Down syndrome and other disorders during a baby's development.
• Smoking. A mother who smokes while pregnant increases her risk of having a child with a congenital heart defect.

Complications

Congenital heart disease complications that might develop years after the initial treatment include:

• Abnormal heart rhythms (arrhythmias). Arrhythmias occur when the electrical impulses that coordinate heartbeats don't function properly, causing your heart to beat too fast, too slowly or irregularly. In some people, severe arrhythmias can cause sudden cardiac death if not treated.

• Heart infection (endocarditis). Your heart comprises four chambers and four valves, which are lined by a thin membrane called the endocardium. Endocarditis is an infection of this inner lining, which generally occurs when bacteria or other germs enter your bloodstream and lodge in your heart. Untreated, endocarditis can damage or destroy your heart valves or trigger a stroke.

  If you have an artificial (prosthetic) heart valve or your heart was repaired with prosthetic material, or if your heart defect wasn't completely repaired, your doctor might prescribe ongoing antibiotics to lower your risk of developing endocarditis.

• Stroke. Stroke occurs when the blood supply to a part of your brain is interrupted or severely reduced, depriving brain tissue of oxygen. A congenital heart defect can allow a blood clot to pass through your heart and travel to your brain.

  Certain heart arrhythmias also can increase your chance of blood clot formation leading to a stroke.

• Heart failure. Heart failure, also known as congestive heart failure, means your heart can't pump enough blood to meet your body's needs. Some types of congenital heart disease can lead to heart failure.

  Over time, certain conditions such as coronary artery disease or high blood pressure gradually sap your heart of its strength, leaving it too weak or too stiff to fill and pump efficiently.

• Pulmonary hypertension. This is a type of high blood pressure that affects the arteries in your lungs. Some congenital heart defects cause more blood to flow to the lungs, causing pressure to build and making your heart work harder. This eventually causes your heart muscle to weaken and sometimes to fail.
• Heart valve problems. In some types of congenital heart disease, the heart valves are abnormal.

Coping and support

One important thing to do if you're an adult with congenital heart disease is to become educated about your condition. Topics you should become familiar with include:

• The name and details of your heart condition and its past treatment
• How often you should be seen for follow-up care
• Information about your medications and their side effects
• How to prevent heart infections (endocarditis), if necessary
• Exercise guidelines and work restrictions
• Birth control and family planning information
• Health insurance information and coverage options
• Dental care information, including whether you need antibiotics before major dental procedures
• Symptoms of your congenital heart disease and when you should contact your doctor

Many adults with congenital heart disease lead full, long and productive lives. But it's important not to ignore your condition. Become informed about your disease; the more you know, the better you'll do.

Preparing for an appointment

If you have a congenital heart defect, make an appointment with your doctor for follow-up care, even if you haven't developed complications. You'll likely be referred to a doctor trained in diagnosing and treating heart conditions (cardiologist).

Here's some information to help you get ready for your appointment.

What you can do

When you make the appointment, ask if there's anything you need to do in advance, such as restrict your diet or fast. Make a list of:

• Your symptoms, if any, including any that may seem unrelated to congenital heart disease, and when they began
• Key personal information, including a family history of heart defects and treatment you received as a child
• All medications, vitamins or other supplements you take and their doses
• Questions to ask your doctor

Take a family member or friend with you, if possible, to help you remember the information you get. For congenital heart disease, questions to ask your doctor include:

• What's the most likely cause of my symptoms?
• What tests do I need?
• What treatments are available? Which do you recommend for me?
• Are there diet or activity restrictions I need to follow?
• How often should I be screened for complications from my heart defect?
• I have other health conditions. How can I best manage these conditions together?
• Are there brochures or other printed material that I can have? What websites do you recommend?

Don't hesitate to ask other questions.

What to expect from your doctor

Your doctor is likely to ask you questions, including:

• Do your symptoms come and go, or do you have them all the time?
• How severe are your symptoms?
• Does anything seem to improve your symptoms?
• What, if anything, worsens your symptoms?
• What's your lifestyle like, including your diet, tobacco use, physical activity and alcohol use?

Overview

Bicuspid aortic valve is a type of heart disease that you're born with (congenital heart disease).

The aortic valve separates the left lower heart chamber (left ventricle) and the body's main artery (aorta). Flaps of tissue (cusps) on the valve open and close with each heartbeat and make sure blood flows in the right direction.

Usually the aortic valve has three cusps. A bicuspid valve has only two cusps. Rarely, some people are born with an aortic valve that has one cusp (unicuspid) or four cusps (quadricuspid).

A bicuspid aortic valve may cause heart problems, including:

• Narrowing of the aortic valve (aortic valve stenosis). As a result, the valve may not open fully. Blood flow from the heart to the body is reduced or blocked.
• Backward flow of blood (aortic valve regurgitation). Sometimes, the bicuspid aortic valve doesn't close tightly, causing blood to flow backward.
• Enlarged aorta (aortopathy). Some people who have a bicuspid aortic valve have an enlarged aorta. An enlarged aorta increases the risk of a tear in the lining of the aorta (aortic dissection).

Symptoms

Most people with a bicuspid aortic valve don't have signs or symptoms of valve disease until they're adults. However, severe symptoms may occur in infants. Symptoms of a bicuspid aortic valve include chest pain, shortness of breath and difficulty exercising.

Diagnosis

A bicuspid aortic valve may be discovered when you're having medical tests for another health condition. Your doctor may hear a heart murmur when listening to your heart with a stethoscope.

An echocardiogram is done to confirm a diagnosis of a bicuspid aortic valve. An echocardiogram uses sound waves to create video images of your heart in motion. It can show your doctor the aortic valve, the aorta, the heart chambers and the blood flow through your heart.

If you have a bicuspid aortic valve, a computed tomography (CT) scan is usually done to check for an enlarged aorta.

Treatment

If you have a bicuspid aortic valve, you will likely be referred to a doctor who specializes in congenital heart disease (congenital cardiologist).

Children and adults with a bicuspid aortic valve need regular doctor's checkups and echocardiograms to check for leaking (regurgitation) or stiffening (stenosis) of the valve or an enlarged aorta.

Treatment depends on the extent of heart valve disease. There are no medications to treat a bicuspid heart valve. However, your doctor may prescribe drugs to treat related heart problems such as high blood pressure. You may need surgery for aortic valve stenosis, aortic valve regurgitation or an enlarged aorta.

Surgeries or other procedures

Surgery may be needed to repair or replace the aortic valve. The type of surgery done depends on your specific condition and symptoms.

• Aortic valve replacement. The surgeon removes the damaged valve and replaces it with a mechanical valve or a valve made from cow, pig or human heart tissue (biological tissue valve). Another type of biological tissue valve replacement that uses your own pulmonary valve is sometimes possible.

  Biological tissue valves break down over time and may eventually need to be replaced. People with mechanical valves will need to take blood thinners for the rest of their lives to prevent blood clots. Your doctor will discuss with you the benefits and risks of each type of valve and discuss which valve may be appropriate for you.

• Aortic root and ascending aorta surgery. Surgeons remove the enlarged section of the aorta located near the heart. It's replaced with a synthetic tube (graft), which is sewn into place. Sometimes, only the enlarged section of the aorta is removed and the aortic valve remains. The aortic valve can also be replaced or repaired during this procedure.
• Balloon valvoplasty. Your doctor may recommend this procedure if a bicuspid valve caused aortic stenosis. The doctor inserts a catheter with a balloon on the tip into an artery in your groin and guides it to the aortic valve. The balloon is inflated, which expands the opening of the valve. The air is then let out of the balloon (deflated). The catheter and balloon are removed. The valve tends to narrow again in adults who have the procedure.

Lifelong care

After a bicuspid aortic valve has been diagnosed, you'll need lifelong doctor's checkups by a cardiologist to monitor for any changes in your condition.

If you have a bicuspid aortic valve, you are more likely to develop an infection of the lining of the heart (infective endocarditis). Proper dental care can help lower your risk.

A bicuspid aortic valve can be passed down in families (inherited). Because of this, doctors often recommend that parents, children and siblings (first-degree relatives) of people with a bicuspid aortic valve be screened with an echocardiogram.