Bicuspid Aortic Valve

What Is a Bicuspid Aortic Valve (BAV)?

The aortic valve is positioned between the left ventricle, or main pumping chamber of the heart, and the aorta. It controls the blood flow out of the heart to the rest of the body.

Normally, the aortic valve has three leaflets that keep blood moving in one direction. However, in BAV, two of the leaflets become fused together during fetal development, creating a functionally two leaflet, or bicuspid, valve. It is one of the most common congenital heart defects, affecting approximately one to two percent of the population.

A person with BAV may have a normally functioning heart and may not experience any symptoms. However, many people develop complications from having a BAV, and some may need surgery to repair the aortic valve, the aorta or both.

What Are Signs & Symptoms of BAV?

Most children do not experience symptoms from their BAV. However, when they do, it is usually a result of significant problems with the valve. Symptoms may include:

• Chest pain
• Shortness of breath
• Fainting
• Racing heart beat

How Is BAV Diagnosed?

To determine whether your child has a bicuspid aortic valve, your heart doctor will order an echocardiogram (ECHO). An ECHO is a painless test that uses sound waves to visualize the heart. The diagnosis of a BAV often cannot be made by physical exam or electrocardiogram (EKG) alone.

What Tests Are Needed for BAV?

If you or your child has been diagnosed with BAV, it is important to receive medical care from a cardiologist who has experience with this condition. Because changes in valve function, size of the aorta and/or heart function occur over time and are different for every individual, lifelong monitoring is important. Your cardiologist may recommend a variety of tests, including:

• EKG: a painless test that records tracings of the electrical signals as they travel through the heart. This test can assess the heart’s rhythm to aid in the diagnosis of various cardiac conditions. It usually takes 5–10 minutes to complete. BAV may run in families and is two to three times more likely to occur in men than women.
• ECHO: a test that uses sound waves to create a moving picture of your child’s heart. This test provides important information about heart and valve function and usually takes one hour to complete.
• Cardiac magnetic resonance imaging (MRI): a test that uses a strong magnet and pulsed radio waves to create detailed images of the heart that may not be obtainable by ultrasound.
• Cardiac magnetic resonance angiography (MRA): a test that uses a strong magnet and pulsed radio waves to detect problems with the aorta and other blood vessels.
• 4-D MRI scan: a cutting edge technology developed and used at Lurie Children’s and other select institutions that offers the most advanced images of blood flow patterns in the heart and aorta.

Family Screening

If you or your child has been diagnosed with BAV, other family members have about a nine percent chance of also having BAV. As a result, family screening is important. The American Heart Association/American College of Cardiology recommends screening for all first degree relatives, including:

• Parents
• Siblings (brothers and sisters)
• Children

Again, many individuals with BAV do not experience symptoms until they begin to have complications, so a screening ECHO is recommended since early diagnosis is key to preventing complications. 

Genetic Testing 

In select cases of BAV, genetic testing is an option to determine whether there is a genetic change that may have caused a child's BAV. This can be considered in families with multiple cases of BAV or when atypical cardiac or non-cardiac features are present.  

When genetic testing identifies a diagnosis, it can be helpful to children and their families in understanding risk, prognosis, and the chance of recurrence in the family. If this is indicated, your cardiologist will discuss options with you and your family.

Complications from BAV

Only 1 in 50 children will develop significant complications by adolescence; whereas 25–40 percent of adults will eventually need some form of medical or surgical intervention for BAV by age 45-50. However, life expectancy in adult patients with BAV disease is typically similar to the general population with appropriate medical surveillance and care.

Complications of BAV can be serious or life- threatening and include:

• Aortic stenosis: the aortic valve does not open wide enough, restricting blood flow
• Aortic regurgitation/Insufficiency: the aortic valve does not close properly, causing the valve to leak
• Aortic aneurysm: enlargement of the aorta
• Aortic dissection: bleeding due to tear or rupture of the wall of the aorta
• Coarctation of the aorta: narrowing of the aorta causing high blood pressure and strain on the heart
• Endocarditis: infection of the heart valves or lining of the heart

Please talk to your cardiologist to determine whether your child is at risk for these complications.

How Is BAV Treated?

Many children with BAV do not have symptoms and do not require medications or surgical procedures. However, routine follow up is important to closely monitor the health of the aortic valve and the aorta.

Medical Therapy 

The goal of medical therapy is to maintain a normal blood pressure and a healthy lifestyle. If your child has high blood pressure or has significant BAV complications, your cardiologist may recommend medications.

High cholesterol may also have a role in early development of BAV complications, so it is important to maintain a heart healthy lifestyle. This includes a low fat, low sodium diet with regular physical activity, in order to maintain a healthy weight. It is also important that your child see the dentist regularly and maintain good dental hygiene to prevent infections.

Physical Activity

Exercise is important to your child’s health. Most children with BAV can safely exercise without significant restrictions. However, strenuous isometric exercise (e.g., weightlifting, climbing steep inclines, chin-ups, push-ups and high-intensity sports) should be avoided if there is significant valve disease or aortic enlargement. Exercise involving multiple repetitions against low resistance is probably safer and will enhance fitness most effectively.

Please discuss the best exercise regimen for your child with your cardiologist.

Surgery

For most patients with BAV, surgery is typically not needed during childhood. The most common surgery performed in children is for associated coarctation, or narrowing, of the aorta. The goal of this surgery is to remove the narrowed portion of the aorta so that blood can flow freely to the lower half of the body. If a child with BAV has significant stenosis of the aortic valve, a cardiac catheterization procedure or surgery may be performed to relieve obstruction to blood flow. If this is necessary, your cardiologist will discuss the best options with you and your family.

Experts in Lurie Children's Bicuspid Aortic Valve Program care for patients with BAV.