Bicuspid Aortic Valve (BAV): A Down-to-Earth Guide to Diagnosis and Therapy
Definition and Causes of BAV
If you or a loved one have found out that a Bicuspid Aortic Valve is affecting your heart, this chapter will help you make informed decisions about it. The aortic valve is designed by nature to be a one-way valve between the heart and its main pipeline, the aorta. A normal aortic valve is made up of three small leaflets, known with the anatomic name of “cusps”. A normal aortic valve can therefore be anatomically described as “tricuspid” (three cusps) aortic valve. Its basic function is to make sure that oxygenated blood can flow out of the heart and into the aorta without resistance while preventing back flow into the heart. The pictures below are there to show you the difference between a normal and a bicuspid aortic valve.
A. Normal Aortic Valve with three thin and pliable leaflets B. Severely Stenotic Bicuspid Aortic valve C. Severely Stenotic Trileaflet Aortic Valve
The bicuspid aortic valve (BAV) is the most common congenital heart defects in humans. Keep in mind that this deformity may function adequately for years without causing any obvious symptoms. The defective design, though, causes a much higher level of mechanical stress because the pressure on the valve is shared by a smaller number of leaflets. This situation eventually leads to either a narrowing (aortic stenosis) or a severe backward leak (aortic insufficiency).
The most recent studies suggest that bicuspid aortic valve disease is caused by a connective tissue disorder that also causes other cardiovascular problems. People with bicuspid aortic valve disease also may have abnormal coronary arteries, aortic aneurysms or an abnormal thoracic aorta (the portion of the aorta that passes through the upper chest) with a higher incidence of high blood pressure.
The actual cause of bicuspid aortic valve disease is not completely understood. We do know that a defective two-leaflet valve develops in the early stages of pregnancy, and it is present at birth. About 2% of the general population has BAVD. It is twice as common in males as in females.
Symptoms and Signs of Bicuspid Aortic Valve Disease
Although bicuspid aortic valve disease is present at birth, it can function for years without causing symptoms. More commonly, patients will have a history of a heart murmur and symptoms develop in their 40’s and 50’s as the valve ages and either narrows or starts leaking. We occasionally see younger patients in their 20’s with severe aortic valve insufficiency (backward leak).
Here are the symptoms of a stenotic (narrow) valve:
- chest pain
- shortness of breath
- leg swelling
- feeling very tired even with minimal physical exercise
If the bicuspid valve does not close completely, blood can flow backwards into the heart. This is known as regurgitation or aortic valve insufficiency. The heart is forced to work twice as much as a normal heart to compensate for the leaky valve. Over time, the heart becomes enlarged and loses muscle power.
The main symptoms of aortic valve regurgitation or insufficiency are:
- shortness of breath during exertion, like walking up stairs.
- patients are always tired, with low energy levels
- patients notice that they can no longer keep up with their peers in sports or normal levels or physical exercise, such as a long walk or a bike ride
As the disease progresses, these symptoms can occur even at rest. When a physician listens to the person’s heart, a characteristic murmurs can be heard.
Diagnostic Tests to Confirm BAV
Individuals experiencing some or all of the symptoms listed above have to resist the temptation to simply ignore them. Denial is a very dangerous reaction to these problems that can lead to irreversible damage. A simple physical exam can detect an abnormal heart sound (murmur) and prompt the referral to a heart specialist.
The most common diagnostic tests are:
- echocardiogram (heart ultrasound)
- transesophageal echocardiography (a more detailed heart ultrasound performed through the esophagus)
- CT scans to check the aorta and see if there is an aneurysm
- magnetic resonance imaging (MRI) of the heart to evaluate the heart, valves and the aorta
- coronary angiography (also known as left heart catheterization) to help find out if there are any problems with the coronary arteries
What happens if BAV is not treated in time?
About 30% of patients affected by bicuspid aortic valve disease develop complications. They can be very serious, even life-threatening. BAV patients need to be carefully monitored and treated by a heart specialist
The most common complications are:
- Heart Failure. Over time, a defective aortic valve will wear out the heart muscle. Shortness of breath, fatigue, leg swelling ensue.
- Aortic Aneurysm and Dissection.This complication needs to be treated in one BAV patient out of five. The underlying connective tissue disorder that causes BAV can also weaken the walls of the aorta. As the aorta loses its strength it stretches and turns into a dangerous aneurysm. Untreated aneurysms can burst or develop a dissection with devastating consequences. We follow our BAV patients very carefully to choose the proper timing for a surgical intervention before rupture or dissection occurs.
Surgical Treatment of BAV
Most patients with BAV are recommended to consider a surgical treatment of their disease when they have
- severe aortic stenosis and/or insufficiency
- ascending aortic aneurysm larger than 4.5 cm
- a combination of both
The best option is currently a minimally invasive operation through a 2″ incision on the right side of the chest as described in this page and in our surgical video. Our results have been excellent and most patients can enjoy all the benefits associated to a minimally invasive approach, including a fast recovery, less bleeding and the lowest chance of infection as well as a superior cosmetic result and minimal pain. Most patients can be back home two to three days after surgery and back to work in two weeks. Consider traveling to a specialized center and consulting a surgeon with minimally invasive expertise to treat your disease. It is definitely worth your time and efforts.
The aortic valve can be either repaired or replaced. Several options are available for replacement.
When the valve is faulty and the aorta has enlarged to a diameter greater than 4.5 cm, we repair the aortic aneurysm at the same time we repair or replace the valve. If the aorta has enlarged but the valve is still good we customize the timing of surgery by considering the patient’s body size in relationship to the size of the aneurysm. In other words, a 4.5 cm aorta can be considered a more serious problem in a small 5’1″, 110 lbs patient as opposed to a 6’2″, 230 lbs patient.
Get A Consultation With Dr. Ciuffo
Feel free to contact Dr.Ciuffo online if you need further information about this disease and its minimally invasive treatment options. We sincerely welcome your questions and we are happy to help you make the right choice for your cardiac conditions.