Diagnoses and Treatments

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Bicuspid Aortic Valve Disease

Bicuspid Aortic Valve Disease

What is a bicuspid aortic valve? A bicuspid aortic valve is a congenital heart defect that affects the one-way valve between your heart and your aorta, known as the aortic valve. Normally, your aortic valve has three cusps that regulate blood flow from your heart to your aorta. But if you have a bicuspid aortic valve, you only have two cusps. Your aortic valve cusps, also called leaflets or flaps, open and shut to regulate blood flow between your heart and your aorta. These flaps make sure your oxygen-rich blood flows in the right direction: Out of your heart and into your aorta. They prevent blood from flowing backward into your heart. The flaps should open widely to let blood flow out of your heart and then close securely. If you only have two flaps, rather than three, it’s harder for your aortic valve to function in the right way. You may develop valve diseases like aortic regurgitation or aortic stenosis.

Bicuspid aortic valve disease (BAVD) Bicuspid aortic valve disease (BAVD) refers to problems caused by your valve anatomy. When your aortic valve only has two flaps, it may have trouble closing and opening properly. If your aortic valve doesn’t close tightly enough, it’s called aortic regurgitation. Blood leaks backward from your aorta into your heart. If your aortic valve doesn’t open wide enough, it’s called aortic stenosis. That means less blood can flow from your heart to nourish the rest of your body. You might have aortic regurgitation or stenosis for years and not even realize it. You may not feel any symptoms. Your aortic valve does its best to keep getting the job done. It’s just not as efficient as a valve with three flaps. Over time, though, your bicuspid aortic valve makes your heart work harder, and this can lead to serious complications. In addition, bicuspid aortic valve disease can be associated with dilation of your aorta, particularly around the aortic root, known as an aortic aneurysm.

How serious is a bicuspid aortic valve? About 1 in 3 people with a bicuspid aortic valve develop complications. They can be very serious or even fatal. That’s why people diagnosed with bicuspid aortic valve disease need ongoing medical checkups and testing. You might not feel any symptoms until the disease has progressed far or you have a medical emergency. But imaging tests can catch subtle changes before you even notice symptoms. And advances in treatment can help you live a long and healthy life.

How common is bicuspid aortic valve?

As many as 1 in 50 people have a bicuspid aortic valve. It’s twice as common in men and people assigned male at birth (AMAB) compared with women and people assigned female at birth (AFAB).

People with Turner syndrome have an increased risk of heart problems including a bicuspid aortic valve.

 

What are the symptoms of a bicuspid aortic valve?

You may not have any symptoms of a bicuspid aortic valve. You could live many years without even knowing your anatomy is different. But over time, you may develop symptoms of aortic regurgitation or stenosis. If your child has a bicuspid aortic valve, you may notice symptoms soon after birth (in severe cases). But it’s more likely that you won’t notice them until later on.

Symptoms in adults include:

 

Fatigue (most common).

Chest pain or discomfort.

Dizziness or fainting.

Heart palpitations.

Shortness of breath, especially with activity.

Symptoms in infants and children include:

 

Becoming tired easily.

Chest pain.

Fainting.

Pale skin.

Trouble breathing.

Trouble with feeding or gaining weight.

Many people don’t realize they have a bicuspid aortic valve until it’s diagnosed through medical testing. That’s because symptoms are easy to miss. Your family may notice a change before you do. One helpful tip is to think about how much activity you can do in a typical day. Compare it with one year ago, or even six months ago. Do you get tired more easily? Do you need more time to rest? If so, that may signal your heart is working harder to keep up.

That’s why it’s so important to keep up with your medical appointments. Talk with your healthcare provider about any changes you notice in your daily life.

 

What causes a bicuspid aortic valve?

Researchers don’t know what causes a bicuspid aortic valve to form. It’s the most common congenital heart defect (present at birth). It develops early in pregnancy.

 

Is a bicuspid aortic valve genetic?

A bicuspid aortic valve can run in families. If a close family member (parent, child or sibling) has this heart defect, talk with your healthcare provider. They may want to run some tests to check your heart anatomy and function.

If you’ve been diagnosed with a bicuspid aortic valve and are planning a pregnancy, talk with your provider. You can’t prevent this defect from happening, but you can monitor your pregnancy and try to diagnose any problems early.

Research will continue to explore the role of genetic mutations in causing bicuspid aortic valve disease. It seems to be an inherited heart defect, but researchers don’t yet fully understand the details.

 

How is a bicuspid aortic valve diagnosed?

A bicuspid aortic valve may be diagnosed during pregnancy through a cardiac prenatal ultrasound. Other times, it’s diagnosed when a child has other heart problems that cause symptoms. Testing then reveals the bicuspid aortic valve.

But other people go many years without knowing they have this condition. The first sign may be a heart murmur that your provider hears through a stethoscope. After that, your provider may run imaging tests to check your heart structure and function.

 

Tests to diagnose a bicuspid aortic valve

Your provider may run the following tests to check your heart and diagnose a bicuspid aortic valve:

Echocardiogram (echo).

Transesophageal echocardiogram.

CT scans.

Heart MRI.

 

What is the treatment for a bicuspid aortic valve?

About 4 out of 5 people with bicuspid aortic valve disease need aortic valve surgery. New technology continues to improve outcomes and reduce complications. Many people can have minimally invasive techniques instead of traditional open heart surgery. Your surgeon will either repair or replace your aortic valve. Your surgeon may also fix other issues (like an aneurysm) at the same time.

 

Your provider will evaluate your situation, run some tests and talk with you about your treatment options. Your treatment will depend on the condition of your aortic valve and aorta. But your provider will also consider your overall heart health, age and other medical conditions.

 

It’s important to have surgery early enough to prevent permanent damage to your heart. Even if you don’t have symptoms, your provider may want to fix the problem now to avoid complications down the road. The best timing is different for everyone. Your medical care team will discuss your options with you.

 

Traditional aortic valve surgery vs. minimally invasive aortic valve surgery

Traditional (open heart) aortic valve surgery involves a 6- to 8-inch incision down the middle of your sternum (breastbone). Your sternum is divided so your surgeon can directly access your heart.

 

Minimally invasive aortic valve surgery involves a smaller “J” incision (2 to 4 inches). The incision will be at the top of your sternum or between your ribs. Your surgeon doesn’t need to open your whole chest. This procedure reduces blood loss and allows you to leave the hospital sooner. You may also recover more quickly.

 

Aortic valve repair vs. aortic valve replacement

Aortic valve repair fixes your valve without replacing it. It can be a good option for aortic regurgitation (leaky valve). But it can’t be used to treat aortic stenosis (narrowing). Aortic valve repair can often be done through a minimally invasive surgery with the “J” incision. Your surgeon will reshape your aortic valve cusps to help them open and close more completely.

 

Aortic valve replacement is used when a repair isn’t possible. It involves removing your valve and giving you a new one. This procedure can be done through traditional open surgery. Or, it can use the minimally invasive transcatheter aortic valve replacement (TAVR) method.

 

There are two main options for your new valve: biological or mechanical.

 

Biological valve. This type of valve is used 80% of the time. It’s made from pig or cow tissue. This valve is safe and durable. But after ten years, you may need another replacement surgery.

Mechanical valve. This type of valve is very durable and can last the rest of your life. But you need to take blood thinners for your whole life to keep it working safely.

Many people prefer a biological valve so they don’t have to take blood thinners. But it depends on your age, other medical conditions and personal preferences. Your provider will discuss your options and help you decide what’s best for you.

 

Another option for valve replacement is the Ross procedure (also called the switch procedure). It involves using your pulmonary valve to replace your aortic valve. This procedure can be a good option for people under age 50 who want to avoid long-term use of blood thinners.

 

Risks of surgery

Generally, valve surgeries have a low risk of complications. But possible risks include:

 

Infection.

Blood clots.

Stroke.

Arrhythmia (temporary).

Reduced kidney function (temporary).

About 98% of people who have valve surgery survive and have a normal life expectancy.

 

How can I prevent a bicuspid aortic valve?

There’s no way to prevent a bicuspid aortic valve. It’s congenital (something you’re born with). But you can make lifestyle changes that reduce your risk of other heart problems like atherosclerosis and coronary artery disease. If you have a bicuspid aortic valve, talk with your provider about managing heart disease risk factors including:

 

High blood pressure (hypertension).

High cholesterol (hyperlipidemia).

Diabetes.

Lifestyle factors like smoking, using tobacco products and alcohol use.

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