Bicuspid aortic valve disease, or BAVD, is a rare congenital heart defect found in only about 2% of the population, affecting men twice as often as women.
To understand the disease, it’s important to understand the area of the heart it occurs in. The aortic valve is a sort of gateway between the heart and the aorta (the main artery through which blood passes from the heart to the rest of the body). Normally, aortic valves have three flaps, or leaflets, which open and close with each beat of the heart, regulating the amount of blood passing through. With BAVD, however, two of these leaflets stick together, creating two, instead of three, functional leaflets.
This defect causes the heart to perform imperfectly. However, it is not necessarily a life-threatening, or even life-altering, problem. Many people with BAVD never experience any negative symptoms associated with the disease — in fact, some live their entire lives never even knowing they had BAVD. Those who do experience symptoms typically do not begin to do so until middle age (around their 40s) or later.
Others are not so lucky. In the rarest of cases, the effects of BAVD may be so severe at birth that the child is at risk for congestive heart failure. More commonly, calcium deposits at the site of the aortic valve may cause the leaflets to stiffen (this is known as stenosis). Because of this, the leaflets are no longer able to open and close properly, which forces the heart to work harder to pump blood and leads to aortic regurgitation.
Aortic regurgitation, also known as aortic insufficiency, is about as pleasant as it sounds. What it basically means is that there is a leak in the aortic valve. Not all of the blood pumped out of the heart flows into the body as it should; instead, some flows backwards into the heart again. In other words, the body isn’t getting all of the blood it needs to function properly, which puts a strain on the heart, which exacerbates the regurgitation — and so on and so forth.
BAVD and its associated aortic regurgitation can also lead to a stretching of the aorta itself in what is known as an aortic aneurysm, due to the irregularity of the blood flow. This weakens the walls of the aorta considerably, and if it is allowed to continue to stretch unchecked the aorta may eventually burst, causing serious and potentially fatal internal bleeding.
Symptoms of aortic regurgitation may include breathlessness, chest pain or discomfort (sometimes spreading to the back) made worse by exertion and/or lying down, dizziness or fainting, fatigue, an irregular pulse or heart palpitations, and/or a heart murmur. Once they begin to manifest, the symptoms may worsen over time as the strain and damage in the heart increases.
Generally, the “fix” for BAVD is aortic valve replacement (AVR) surgery (though for a lucky few an aortic valve repair procedure is an option). If the damage in the heart presents itself especially suddenly or severely, emergency cardiac surgery may be necessary.