Bicuspid Aortic Valve Disease (BAV)

BAV often goes undetected in young children and even into young adulthood due to its lack of symptoms. However, as the faulty valve may deteriorate over time, symptoms related to leaks or narrowing can develop. Signs of these issues might include:

• Easy fatigue in infants or children
• Pain in the chest area
• Breathing difficulties
• Fast, uneven heartbeats
• Fainting spells
• Skin appearing pale 

A bicuspid aortic valve is a condition present from birth, though its exact cause remains unknown. The bicuspid aortic valve can be hereditary. Specific genetic mutations may be linked to this disorder, as it often runs in families.

Exposure of the birthing parent to severe infections or certain strong medications, such as antiseizure drugs, might increase the risk of congenital valve problems. If you’re diagnosed with this condition, it’s recommended that your immediate family members (parents, siblings or children) undergo screening to check for its presence. 

Bicuspid aortic valve disease can lead to serious complications if untreated. These include:

• Heart problems: Aortic valve stenosis makes your heart work harder to push blood through. Your left ventricle, the main pumping chamber, grows thicker and larger. It can’t pump blood as well as it should. This leads to heart failure over time. Other factors like smoking or high cholesterol can make this happen faster.
• Aortic aneurysms and risk of tearing (dissection): About 1 in 3 people with a bicuspid aortic valve also have a dilated (enlarged) aorta above their valve. As the aorta expands, its walls weaken and stretch out. This can cause an aortic aneurysm (bulge in the aorta) to form. If the aneurysm gets too big, it might burst or tear. These are very dangerous emergencies that can be life-threatening. 

Your physician will review your symptoms and discuss your health background. During a physical check-up, the doctor uses a stethoscope to carefully listen to your heart. If a heart murmur is detected, it might suggest the need for additional tests. This is typically how a bicuspid aortic valve is initially identified, particularly in people without symptoms. 

Several tests are available to evaluate your heart initially then look more closely and deeper if problems with your valve (or any other heart structure and blood vessels) are suspected. These include:

• Electrocardiogram (ECG) may give clues to underlying valve or other heart abnormalities.
• Chest X-ray might suggest an enlarged heart, show calcium on the valve or fluid in the lungs which can occur in later stages of valve disease.

However, an Echocardiogram is the primary test for diagnosing a bicuspid aortic valve. This technique involves placing a microphone on your chest and uses sound waves to create moving heart images on a computer screen. It can show all the major structures of the heart and how blood moves through it. It is a very safe and accurate test that can often identify problems with heart valves that can be difficult to diagnose through only a physical exam.

If abnormalities are seen on an echocardiogram, you may need additional testing to visualize the valve better as well as the other potentially involved structures. Your provider may use a transesophageal echocardiogram (TEE) which can see the heart much better by placing the echo probe inside your esophagus which passes right next to the heart, allowing heart structures and chambers to be seen much clearer than with a standard echocardiogram. This procedure is identical to getting an endoscopy performed, which gastroenterologists use to pass a tube with a camera on it to examine your esophagus and stomach. Medications will be given to help this be less uncomfortable and overall, this is a very safe and effective procedure.

Other tests your doctor might conduct to find other important details include:

• Cardiac CT or MRI
• Cardiac catheterization, a procedure in which a thin tube (catheter) is placed into the heart to see blood flow and take accurate measurements of blood pressure and oxygen levels throughout the various chambers in and around your heart and the aortic valve. 

BAV runs in families. If you know of this condition in your family, speak to your provider before becoming pregnant. There is no known way to prevent the condition. 

You can live a normal life with BAV. You may need to make some lifestyle changes to help keep your heart healthy and reduce stress on your heart. These include:

• Eating a heart-healthy diet.
• Greatly reducing how much sodium (salt) you eat.
• Monitor for any symptoms especially during exercises or sports.
• Take medications prescribed by your doctor regularly  

You will need regular appointments with your provider to check your heart function. If you have valve surgery, you will have scheduled follow-up appointments and will likely need to continue medications. These appointments are essential for keeping you healthy and for monitoring your valve.