What are the symptoms and signs of BAVD?

Although bicuspid aortic valve disease is present at birth, it usually is not diagnosed until adulthood because the defective valve can function for years without causing symptoms. Rarely, the disease is so severe at birth that the baby develops congestive heart failure early in life. More commonly, patients will have a history of having a childhood murmur and symptoms develop in mid-life as the valve ages.

Calcium deposits on and around the leaflets eventually cause the valve to stiffen and narrow, a condition known as stenosis. As stenosis develops, the heart must pump increasingly harder to force the blood through the valve. Symptoms of a stenotic valve include chest pain, shortness of breath and dizziness or fainting caused by inadequate blood flow to the brain.

If the bicuspid valve does not close completely, blood can flow backwards into the heart. This is regurgitation, also called aortic valve insufficiency. The heart then must pump that same blood out again, causing strain on the heart’s lower left chamber, the left ventricle. Over time, the ventricle will dilate, or over-expand. The main symptom of aortic valve regurgitation is shortness of breath during exertion, like walking up stairs.

As the disease progresses, these symptoms start occurring more frequently, even without exercise. When a physician listens to the person's heart, characteristic murmurs can be heard.

How is bicuspid aortic valve disease diagnosed?

Individuals experiencing symptoms such as shortness of breath typically begin with their family doctor, who will perform a physical examination that includes listening to the person's heart. When the patient’s symptoms and the sounds heard on the cardiac exam raise the suspicion of bicuspid aortic valve disease, the patient needs to be referred to a specialist in valvular heart disease.

At Cleveland Clinic Heart and Vascular Institute, specialists use echocardiography (heart ultrasound), transesophageal echocardiography (an up-close heart ultrasound performed through the esophagus), CT scans, and magnetic resonance imaging (MRI) of the heart to evaluate the heart, valves and aorta.

Other tests such as an electrocardiogram (to test the heart’s electrical activity) or coronary angiography (an X-ray of the heart's blood vessels using a special dye) can help diagnose other problems with the heart and arteries that may be associated with bicuspid aortic valve disease. Cleveland Clinic specialists also evaluate patients with BAVD for aneurysms, coronary artery disease and heart rhythm disorders.

Can BAVD cause complications?

Yes, about 30% of people with bicuspid aortic valve disease develop complications. They can be very serious, even life-threatening. This is why people diagnosed with BAVD should be under the ongoing care of a specialist in heart valve disease who can monitor changes in the heart, valves and aorta over time.

The major complications are:

Heart Failure

Over time, a stenotic valve will cause the left ventricle to thicken due to the extra pumping required to force blood through the valve. This enlarged ventricle and in inefficient pumping can lead to heart failure. Smoking or high cholesterol can accelerate the process.

Aortic Aneurysm and Dissection

The underlying connective tissue disorder that causes BAVD also affects the tissue layers that form the walls of the aorta. As the tissue layers degenerate, the aorta walls lose their strength and stretch out of shape. Eventually, this can cause the formation of an aneurysm, a bulging out area of the aorta where the walls are thin and over-stretched.

The aneurysm can rupture or the inner and outer tissue layers of the aorta can shred apart (aortic dissection). Rupture and dissection are life-threatening emergencies. Cleveland Clinic heart and valve specialists are experienced at monitoring the aorta in patients with BAVD to plan surgical intervention before rupture or dissection occurs.

In the Cleveland Clinic experience, with over 5,000 patients with BAVD, 20 % had associated aneurysms. At Cleveland Clinic, we have developed a special mathematical formula we use to determine when surgery is necessary, based on the patient’s height and weight and the size of the aorta. The formula described by Dr. Svensson is the ratio between the cross sectional area of the aorta in centimeters and the height in meters. If the measurement exceeds 10, surgery is usually considered.

Reviewed: 07/15