What to know about bicuspid aortic valve (BAV)

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BAV is a common congenital heart condition, affecting 0.5–2% of adults with a 3-1, male-to-female prevalence.

Researchers do not yet understand the exact cause of BAV. It can run in families. The inheritance pattern is variable but might be autosomal dominant, which means only one parent needs just one copy of the gene that causes BAV to pass it to their child. It can also occur sporadically, without any familial relation.

BAV can also occur alongside other conditions. Around 30% of people with Turner syndrome, William syndrome, and ventricular septal defect also have BAV.

BAV causes the aortic valve to degenerate, resulting in complications. This can include aortic stenosis or aortic regurgitation.

People with BAV usually do not experience symptoms until adulthood and when the valve has degenerated enough for complications to occur. When these complications produce symptoms, they include:

• fatigue
• fatigue on exertion
• shortness of breath
• fainting
• chest pain
• heart failure

Still, people can develop other symptoms too. For example, less commonly, a person may experience failure to gain weight.

Several complications can occur due to BAV, including:

• Aortic valve stenosis: This is when the aortic valve cannot open fully, restricting blood flow to the aorta. A person can go a very long time without symptoms. Generally, stenosis makes the heart work harder to push the blood back out, which can lead to heart failure.
• Aortic regurgitation: This is when the aortic valve cannot close fully, allowing blood to flow back into it. Similarly to stenosis, it can lead to heart failure over time.
• Infectious endocarditis: This is when the inner lining of the heart becomes inflamed due to bacteria. This can lead to several heart problems, including some which are fatal.
• Aortic dilatation: This is when the aorta becomes abnormally dilated. This can lead to aortic aneurysm, which can be fatal if it ruptures. Aortic aneurysm affects 20–40% of patients with BAV.

Doctors typically do not diagnose BAV before adulthood, as this is when symptoms usually first appear.

When initially checking for BAV, a doctor will use a stethoscope to listen to the patient’s heartbeat. Specific sounds — such as a systolic ejection click and a murmur — indicate BAV.

After this, they may perform a transthoracic echocardiogram. In this procedure, a doctor places an ultrasound probe on a patient’s chest. It uses waves to generate inside-the-body images. By looking at these images, a doctor can see if the patient has BAV.

To be certain, they may follow up with a transesophageal echocardiogram (TEE). This is the same as a transthoracic echocardiogram, except the ultrasound probe goes down the patient’s throat into the esophagus. TEE produces much clearer images of the heart, making it easier for a doctor to diagnose BAV.

Doctors can also use other types of imaging, such as MRI and CT scans, to help confirm the diagnosis.

There is currently no cure for BAV. Generally, to treat BAV, doctors may perform routine surveillance with an echocardiogram. If BAV worsens rapidly — or becomes severe — surgery may be necessary.

There are two types of surgery that doctors use to treat BAV: aortic valve repair and aortic valve replacement.

Aortic valve repair

A surgeon will use balloon valvuloplasty and surgical valvuloplasty techniques to widen the aortic valve, which has narrowed too much.

During balloon valvuloplasty, a doctor places a thin plastic tube with an inflatable balloon on its end into a blood vessel. Then, they guide the tube into the aortic valve and inflate the balloon.

In surgical valvuloplasty, the surgeon makes incisions in the cusps (or leaflets).

Aortic valve replacement

If valve repair is not an option, it is necessary to replace the valve entirely. A surgeon can perform surgical aortic valve replacement or transcatheter aortic valve replacement (TAVR or TAVI).

Surgical aortic valve surgery is a type of open-heart surgery. The surgeon removes a patient’s aortic valve and replaces it. The replacement valve may be a human donor, animal, or mechanical.

TAVI replaces the aortic valve using a catheter. The surgeon inserts the tube into a blood vessel and guides it to the aortic valve. The replacement valve then travels through the tube to the aortic valve, where the surgeon pushes it into place.

More research is necessary to determine the optimal use of TAVI in people with BAV. Early trials have shown promise of TAVI in people with severe and symptomatic aortic stenosis, but had excluded people with BAV.

Although most people with BAV are likely to experience serious heart issues in their lifetime, doctors are very knowledgeable about treating and managing BAV long term.

When BAV is well managed, including doctors implementing medical interventions when necessary, the life expectancy of people with BAV has been shown to be much the same as most people who do not have BAV.

A 2017 study indicated that long-term survival was excellent in people with BAV, but researchers note that people tend to experience frequent cardiovascular events.

BAV management involves minimizing stress on the heart. Doctors may recommend:

Medication

Medications can help some people manage BAV symptoms and if complications occur. Most focus on treating blood pressure. This is because high blood pressure can make the heart work hard, which can cause the aortic valve to degrade faster.

A doctor may prescribe the following:

• beta-blockers
• vasodilators
• diuretics
• angiotensin-converting enzyme inhibitors
• angiotensin receptor blockers

Diet and exercise

A major aspect of which is reliant on eating heart-friendly foods. According to the American Heart Association (AHA), this should involve eating:

• plenty of fruit and vegetables
• whole grains
• low fat sources of protein — such as plant proteins
• liquid non-tropical vegetable oils
• low salt foods

A person may also need to minimize — or manage — intake of the following:

• alcohol
• products with added sugars
• highly processed foods

Engaging in regular physical activity, such as exercising, is beneficial for someone with BAV. The AHA recommends the following for adults:

• getting 150 minutes per week of moderate intensity aerobic activity or 75 minutes per week of vigorous aerobic activity
• engaging in moderate to high intensity muscle-strengthening activities at least 2 days per week
• minimizing time spent sitting

Other major factors that adversely affect heart health include smoking and stress, as these can significantly raise blood pressure.

Learn more about the benefits of eating nutritious foods that support heart health.

If a person is experiencing any symptoms relating to BAV — acutely or in combination — they should contact their doctor. A worsening in symptoms may also warrant medical attention, especially if a person experiences the following:

• severe chest pain
• shortness of breath
• fainting
• skin turns pale

BAV is a congenital heart condition, whereby the aortic valve has two cusps instead of three. BAV can lead to serious complications such as aortic stenosis or regurgitation.

Over time, complications can lead to severe symptoms like chest tightness, shortness of breath on exertion, and fatigue.

Most people with BAV experience long term medical issues. It can be helpful to know that doctors are experienced in treating these medical issues.

They can help you create a care management plan that includes implementing medical interventions when necessary. Medical interventions may include medications, surgery to fix the aortic valve, and lifestyle changes.

With a healthcare team providing medical insight, support, and interventions, people with BAV can generally live a full and long life.