Some people are born with a bicuspid aortic valve, in which the aortic valve — located between the lower left heart chamber (left ventricle) and the main artery that leads to the body (aorta) — has only two (bicuspid) cusps instead of three. People may also be born with one (unicuspid) or four (quadricuspid) cusps, but these are rare.
A bicuspid aortic valve may cause the heart's aortic valve to narrow (aortic valve stenosis). This narrowing prevents the valve from opening fully, which reduces or blocks blood flow from the heart to the body. In some cases, the aortic valve doesn't close tightly, causing blood to leak backward into the left ventricle (aortic valve regurgitation). Most people with a bicuspid aortic valve aren't affected by valve problems until they're adults, and some may not be affected until they're older adults. Some children with bicuspid aortic valves may have valve problems.
Some people with a bicuspid aortic valve may have an enlarged aorta — the main blood vessel leading from the heart. There is also an increased risk of aortic dissection.
Your doctor may review your signs and symptoms, discuss your medical and family history, and conduct a physical exam. Your doctor may listen to your heart with a stethoscope to determine if you have a heart murmur that may indicate a bicuspid aortic valve. A bicuspid aortic valve may also be diagnosed during testing for another condition.
Doctors usually will conduct an echocardiogram to diagnose a bicuspid aortic valve. An echocardiogram uses sound waves to produce video images of your heart in motion. Doctors may use this test to evaluate the aortic valve, the aorta, the heart chambers and the blood flow through your heart.
Other imaging tests may be conducted if doctors need additional information to diagnose your condition.
Children and adults with a bicuspid aortic valve will require regular monitoring for any changes in their condition, such as valve problems or an enlarged aorta, by doctors trained in congenital heart disease (congenital cardiologists).
You may eventually need treatment for valve problems such as aortic valve stenosis, aortic valve regurgitation or an enlarged aorta.
Depending on your condition, treatment may include:
Aortic valve replacement
In aortic valve replacement, your surgeon removes the damaged valve and replaces it with a mechanical valve or a valve made from cow, pig or human heart tissue (biological tissue valve). Another type of biological tissue valve replacement that uses your own pulmonary valve is sometimes possible.
Biological tissue valves degenerate over time and may eventually need to be replaced. People with mechanical valves will need to take blood-thinning medications for life to prevent blood clots. Your doctor will discuss with you the benefits and risks of each type of valve and discuss which valve may be appropriate for you.
In a balloon valvuloplasty, a doctor inserts a catheter with a balloon on the tip into an artery in your groin and guides it to the aortic valve. Your doctor then inflates the balloon, which expands the opening of the valve. The balloon is then deflated, and the catheter and balloon are removed. The procedure can treat aortic valve stenosis in infants and children, but the valve tends to narrow again in adults who have the procedure. Along with relief of stenosis, some people may have an increased amount of aortic regurgitation after the procedure.
Aortic valve repair
Aortic valve repair isn't often performed to treat a bicuspid aortic valve. To repair an aortic valve, surgeons may separate valve flaps (cusps) that have fused, or reshape or remove excess valve tissue so that the cusps can close tightly.
Aortic root and ascending aorta surgery
In this procedure, surgeons remove the enlarged section of the aorta located near the heart. Surgeons then replace it with a synthetic tube (graft), which is sewn into place. The aortic valve can also be replaced or repaired during this procedure.
In some cases, doctors may replace the enlarged section of the aorta and the aortic valve remains in place.
After a bicuspid aortic valve has been diagnosed, you'll need lifelong care from a pediatric cardiologist as a child, and then from an adult congenital cardiologist as an adult, including regular follow-up appointments to monitor for any changes in your condition.
A bicuspid aortic valve can be inherited in families. Because of this, doctors often recommend that all first-degree relatives — parents, children and siblings — of people with a bicuspid aortic valve be screened with an echocardiogram.