Bicuspid Aortic Valve

What is bicuspid aortic valve?

Bicuspid aortic valve is a type of abnormality in the aortic valve in the heart. In bicuspid aortic valve, the valve has only 2 small parts (leaflets), instead of the normal 3. This condition can be present from birth (congenital). In some cases, a person can have 3 leaflets but 2 leaflets become fused together over time. This is a condition called functional bicuspid valve. It can occur with other heart defects.

The heart’s ventricles are the 2 lower chambers of the heart. The left ventricle pumps oxygenated blood to the body. It connects to the aorta, the main blood vessel leading to the body. Between the left ventricle and the aorta is the aortic valve, 1 of the heart’s 4 valves. These valves help the blood flow through the heart’s 4 chambers and out to the body or into the lungs.

The aortic valve normally has 3 small parts, called leaflets. Sometimes, 2 leaflets develop instead of 3. These leaflets may be thicker and stiffer than normal, too. That may cause aortic stenosis. In aortic stenosis, the valve won’t open as easily as it should when the heart squeezes. The left side of the heart has to work much harder than it normally would to get blood out to the body. Over time, this can damage the heart muscle.

Sometimes, the bicuspid aortic valve is leaky. This lets blood flow back into the heart when the heart relaxes, instead of flowing forward into the body the way it should. This process is called aortic regurgitation. It can also make the heart work harder.

Only a small portion of people have a bicuspid aortic valve. But it's one of the most common heart defects present from birth. It's also more common in boys than in girls.

What causes bicuspid aortic valve?

No one knows exactly what causes most cases of bicuspid aortic valve. Researchers think that some types of inherited disorders can be linked to bicuspid aortic valve disease. Somehow, the valve doesn't develop normally before birth.

Bicuspid aortic valve tends to run in families. So it may result from a gene defect. Experts advise that parents, brothers, sisters, and children (first-degree relatives) of someone who has a bicuspid aortic valve be evaluated with an echocardiogram. Identifying and keeping track of the condition may help lower the risk for possible complications in the future. Researchers are still trying to learn more about the specific genes involved. It might also happen if a mother is exposed to certain infections or medicines while pregnant.

Certain factors can make acquired bicuspid aortic valve more likely to have problems. Some of these are:

• High cholesterol levels
• High blood pressure
• Smoking
• Chronic kidney disease

What are the symptoms of bicuspid aortic valve?

Some babies with very narrow aortic valves might have symptoms early on. Most of these valves work well for many years, though. There might not be any symptoms. Or symptoms may not appear until adulthood. Many times, people may not even realize they have a bicuspid aortic valve until they have it diagnosed as adults. Most commonly, people start to have symptoms some time in middle age.

Over time, the valve can become harder to open. Or it can become leakier. Symptoms can gradually develop. They may include:

• Shortness of breath with exercise
• Chest pain
• Lightheadedness or fainting
• Unable to exercise or loss of stamina
• Tiredness (fatigue)

These symptoms may look like other health problems. Always see your healthcare provider for a diagnosis.

How is bicuspid aortic valve diagnosed?

Your healthcare provider will ask about your symptoms and past health. You will also need a physical exam. Some tests can also help with the diagnosis. These include:

• Echocardiography. This is the most important test. It shows the movement of blood through the valve using ultrasound.
• Transesophageal echocardiography. This is a heart ultrasound done from the esophagus that can give better pictures of the aortic valve.
• Electrocardiogram. This is done to check the heart’s electrical rhythm.
• Chest X-ray. These help view the heart anatomy and lungs.
• Cardiac CT or MRI. These are done if more detail is needed about the valve, heart, or aorta.

Sometimes, bicuspid aortic valve first appears on an echocardiogram done for other reasons. A cardiologist might first diagnose it.

How is bicuspid aortic valve treated?

Your healthcare provider may choose to keep track of you with periodic echocardiograms or MRIs. If your valve disease is more severe, they might need to do this testing as often as once a year.

Currently, there are no treatments known to prevent bicuspid valve from developing stenosis or regurgitation. Medicines for high blood pressure or high cholesterol may help some people.

If you have symptoms, your healthcare provider may recommend repairing or replacing the valve. That is the only certain treatment. Some people have this done during childhood. But other people may not need it until adulthood.

Your healthcare provider might recommend opening the valve with a procedure using a long, thin tube (catheter). This tube is threaded through a blood vessel all the way to the aortic valve. There a balloon can be inflated to open the valve. This is called valvuloplasty. This often is only a temporary measure. In most advanced cases, your healthcare provider might recommend open heart surgery. The aortic valve can then be replaced or fixed. Some people with bicuspid aortic valve may be able to have TAVR (transcatheter aortic valve replacement). This procedure uses a catheter instead of surgery to replace the valve.

Healthcare providers may use donor valves from cadavers for valve replacement. But most of the time, biologic valves made from tissue from a cow or a pig are used. Other times, they use artificial mechanical valves. Some artificial valves require you to take blood thinners lifelong. Sometimes surgeons replace the bicuspid aortic valve with the person’s own pulmonary valve and use a donor valve to replace the pulmonary valve. Each type of procedure and surgery has its own risks and benefits. Talk with your healthcare provider about what makes sense for you.

If you are pregnant or considering becoming pregnant, talk with your healthcare provider about treatment. You may need treatment even if you don’t usually have symptoms.

What are possible complications of bicuspid aortic valve?

An untreated bicuspid aortic valve can eventually lead to symptoms of heart failure. These include shortness of breath, fatigue, chest pain, fainting, and swelling. Also, an aortic aneurysm might develop downstream from the aortic valve and can lead to bleeding or rupture. Healthcare providers prefer to treat bicuspid aortic valve before heart failure develops.

Endocarditis is another possible complication. It’s an infection of the heart valves. Your healthcare provider may give you special instructions about how to help prevent it.

People with bicuspid aortic valve can also have abnormal heart rhythms (arrhythmias) like atrial fibrillation. In rare cases, some arrhythmias can cause sudden death. That may be more likely to happen after exercise.

How to manage bicuspid aortic valve

Your healthcare provider may give you other instructions for managing your bicuspid aortic valve and any other existing heart disease. These might include:

• Eating a heart-healthy diet
• Maintaining a healthy weight
• Exercising regularly (ask if you have any restrictions)
• Taking medicine for high cholesterol or high blood pressure if needed
• Not smoking
• Reducing stress
• Practicing good dental hygiene
• Controlling blood sugar levels if you have diabetes

If you have had a valve replacement, you may also need to take antibiotics before certain medical and dental procedures. Ask your healthcare provider if this applies to you. Some people will also need to take lifelong medicine to prevent blood clots.

When should I call my healthcare provider?

If your symptoms are gradually getting worse, see your healthcare provider soon. See a healthcare provider right away if you have symptoms like severe chest pain or shortness of breath.

Key points about bicuspid aortic valve

• Bicuspid aortic valve is a type of abnormality of the aortic valve. It makes the heart work harder than it should.
• Some people with bicuspid aortic valve will have symptoms in early childhood. Others won’t have symptoms until adulthood.
• The valve can gradually become harder to open or leakier over time.
• Your healthcare provider may choose to keep track of your aortic valve. Over time, you may need treatment to repair or replace the bicuspid aortic valve or to repair an aneurysm if it develops.

Next steps

Tips to help you get the most from a visit to your healthcare provider:

• Know the reason for your visit and what you want to happen.
• Before your visit, write down questions you want answered.
• Bring someone with you to help you ask questions and remember what your provider tells you.
• At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you.
• Know why a new medicine or treatment is prescribed, and how it will help you. Also know what the side effects are.
• Ask if your condition can be treated in other ways.
• Know why a test or procedure is recommended and what the results could mean.
• Know what to expect if you do not take the medicine or have the test or procedure.
• If you have a follow-up appointment, write down the date, time, and purpose for that visit.
• Know how you can contact your provider if you have questions, especially after office hours or over weekends.

What is aortic valve regurgitation?

When your aortic valve leaks, it's called aortic valve regurgitation or aortic insufficiency. The aortic valve is one of the heart’s 4 valves. These valves help the blood flow through the heart and out to the body. Normally, the aortic valve stops blood from flowing back into the left ventricle. The left ventricle pumps blood rich in oxygen and nutrients to the body. With aortic valve regurgitation, some blood leaks back through the valve as the heart relaxes. The valve is normally made of 3 tissue flaps (leaflets) that open and close together like a door to allow blood to pass. Aortic valve regurgitation happens more often with age. It can affect anyone.

Aortic valve regurgitation can be acute or chronic. With acute aortic valve regurgitation, the valve suddenly becomes leaky. The heart doesn’t have time to get used to the leak in the valve. With chronic aortic valve regurgitation, the valve slowly becomes leakier. This gives the heart time to get used to the leak.

What causes aortic valve regurgitation?

Aortic valve regurgitation can be caused by any condition in which the leaflets or the ring structure of the valve is damaged. This can occur with the following conditions:

• Weakening and calcification of the valve from aging
• High blood pressure
• Defects of the aortic valve present at birth (congenital). This might be a bicuspid valve instead of the normal tricuspid. A bicuspid valve has 2 leaflets instead of the normal 3 leaflets.
• Rheumatic heart disease, an inflammatory disease caused by Strep bacteria
• Widening of the aorta for unknown reasons
• Marfan syndrome, a connective tissue disorder
• Certain types of arthritis. These include ankylosing spondylitis, rheumatoid arthritis, and reactive arthritis.
• Syphilis, a sexually transmitted infection (STI)
• Ehlers-Danlos syndrome, a connective tissue disorder
• Use of certain appetite-suppressing medicines
• Bacterial infection of the heart valve (endocarditis)
• Tearing of the aorta
• Injury

Who is at risk for aortic valve regurgitation?

Advancing age is a common risk factor for aortic regurgitation. You can reduce some risk factors for aortic valve regurgitation, such as:

• Manage high blood pressure with lifestyle and medicines
• Use antibiotics to treat rheumatic fever and prevent rheumatic heart disease
• Don't use IV (intravenous) drugs. This lowers the risk for heart valve infection.
• Promptly treat health conditions that can lead to the disorder

There are other risk factors, such as age, that you can’t change. You also can’t change certain genetic conditions, such as Marfan syndrome.

What are the symptoms of aortic valve regurgitation?

You may not have any symptoms from mild aortic regurgitation. If the condition becomes more severe, you may develop symptoms that get worse over time. These may include:

• Shortness of breath with exertion
• Shortness of breath when lying flat
• Fatigue
• Unpleasant awareness of your heartbeat (palpitations)
• Swelling in your legs, abdomen, and the veins in your neck
• Chest pain or tightness with exertion
• Strong pulses felt in the neck

Sudden severe aortic valve regurgitation is a medical emergency, and includes symptoms, such as:

• Symptoms of shock (such as pale skin, unconsciousness, or rapid breathing)
• Severe shortness of breath
• Abnormal heart rhythms that make the heart unable to pump effectively

How is aortic valve regurgitation diagnosed?

Your healthcare provider will take your health history and give you a physical exam. Using a stethoscope, they will check for heart murmurs or congestion in your lungs. You may also have tests, such as:

• Transthoracic echocardiogram (ultrasound of the heart, TTE) to make the diagnosis, assess severity and evaluate for a possible cause. This ultrasound is done by putting a probe on the surface of the skin to take images.
• Transesophageal echocardiogram (ultrasound of the heart taken from the esophagus) to further assess severity and evaluate for tearing of the aorta if needed
• Stress testing may be advised to assess how well your heart works under physical stress
• CT or MRI can also be used to assess for tearing of the aorta
• MRI may be advised to assess severity and heart function if echocardiogram images are not ideal
• Cardiac catheterization, aortography, or coronary angiography may be advised before aortic valve surgery or when initial testing provides unreliable data
• Electrocardiogram(ECG), to assess heart rhythm
• Chest X-ray can identify enlargement of the heart and aorta

How is aortic valve regurgitation treated?

Treatment varies according to how bad your condition is. If you have a mild form of the condition, you may need only regular check-ups with your healthcare provider. You may not have symptoms for many years. Symptoms may get worse slowly over time and not affect daily life.

In severe aortic regurgitation, surgery is commonly advised. The timing of surgery is important to discuss with your healthcare provider and surgeon. In some cases, severe aortic regurgitation may be treated with medicine. Medicine may also be used in the short-term before valve replacement surgery. Or it may be used ongoing if you are not able to have valve replacement surgery.

It's also important to manage your blood pressure.

Treatment options may include:

• Medicines to lower blood pressure and help the heart relax
• Antiarrhythmic medicines to help maintain the heart’s rhythm
• Water pills (diuretics) to reduce swelling

For people with severe aortic regurgitation, symptoms, enlargement of the left ventricle or abnormal pump function, the treatment is often somewhat different:

• You may need surgery to replace the valve.
• Your healthcare provider may recommend surgery even if you don’t yet have symptoms. People with advanced symptoms are less likely to recover well from the surgery. Because of this, it's important to closely follow up with your healthcare provider to make sure timing of surgery is right for you.
• You may need to take medicines until you have surgery.
• Most people need an artificial aortic valve. In some cases, an aortic valve repair may be advised. The surgeon may do open surgery or may use a minimally invasive approach.
• If you need heart surgery for another reason, your healthcare provider may advise aortic valve replacement at the same time.

Sometimes aortic valve regurgitation is acute:

• Acute, severe aortic valve regurgitation needs surgery right away. You may need medicines for a short time to stimulate your heart or to dilate or constrict your blood vessels.
• In some cases, an infection of the heart valves can cause acute valve regurgitation. This may only need to be treated with antibiotics.

What are possible complications of aortic valve regurgitation?

Complications are sometimes associated with aortic valve regurgitation, such as:

• Complications from valve replacement surgery
• Bacterial infection of the heart valves
• Heart failure
• Sudden cardiac death

To reduce the risk of these complications, your healthcare provider may prescribe medicines to help the heart pump better.

Living with aortic valve regurgitation

See your healthcare provider for regular checkups. Visit them right away if your symptoms change. Make note of your symptoms when you exercise. They may get worse during physical activity. It's common for symptoms to first be noticeable during exercise. Talk with your healthcare provider about your exercise habits. Tell all your healthcare providers and your dentist about your health history.

Your healthcare provider may prescribe treatments for heart problems related to aortic valve regurgitation, such as:

• A low-salt, heart-healthy diet to decrease blood pressure and stress on your heart
• Medicines to lower your blood pressure
• Medicines to reduce the risk for irregular heart rhythms
• Reduction of caffeine and alcohol to reduce the risk of arrhythmias
• Cholesterol-lowering medicines
• Smoking cessation
• Regular physical activity as you are able. This can help control cholesterol and blood pressure and keep your lungs and heart muscle strong.

When should I call my healthcare provider?

If you notice your symptoms gradually getting worse, plan to see your healthcare provider soon. You may need surgery or a medicine change.

Get medical help right away if:

• You have symptoms of acute severe aortic valve regurgitation. These may include sudden shortness of breath, a rapid heartbeat, chest pain, severe lightheadedness, and loss of consciousness.
• You notice sudden new symptoms.

Key points about aortic valve regurgitation

• In aortic valve regurgitation, the heart’s aortic valve does not work right. It becomes leaky allowing some blood flow back into the left ventricle instead of forward into the body.
• You may not have symptoms for many years.
• Chronic aortic valve regurgitation may get worse. It may need surgery.
• Acute, severe aortic valve regurgitation is a medical emergency. You should get help right away.
• See your healthcare provider regularly to monitor your aortic valve regurgitation. If your symptoms are severe or get worse, see your healthcare provider right away.

Next steps

Tips to help you get the most from a visit to your healthcare provider:

• Know the reason for your visit and what you want to happen.
• Before your visit, write down questions you want answered.
• Bring someone with you to help you ask questions and remember what your provider tells you.
• At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you.
• Know why a new medicine or treatment is prescribed, and how it will help you. Also know what the side effects are.
• Ask if your condition can be treated in other ways.
• Know why a test or procedure is recommended and what the results could mean.
• Know what to expect if you do not take the medicine or have the test or procedure.
• If you have a follow-up appointment, write down the date, time, and purpose for that visit.
• Know how you can contact your healthcare provider if you have questions, especially after office hours or on weekends.