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Bicuspid aortic valve disease is a congenital birth defect where the aortic valve only has two leaflets instead of three, causing blood to flow back into the heart and potentially leading to symptoms later in life. Surgery is often required to replace the defective valve. The cause of the disease is not fully understood, but it may be related to connective tissue diseases.
Bicuspid aortic valve disease is a birth defect involving the aortic valve, which connects the heart and aorta. Instead of having three leaflets, known as leaflets, within the valve, a person with bicuspid aortic valve disease has only two leaflets. Without the necessary third flap, blood can flow back into the heart from the aorta, putting strain on the heart muscles and possibly causing symptoms of the disease. Rarely is the disease diagnosed at birth, in infancy, or in adolescence because younger hearts and valves can easily compensate for the deformity. Men are statistically more likely to have the defect than women.
Looking at a diagram of the human heart, the aortic valve sits inside the tip of the aorta, connecting the aorta with the wall of the heart. The aorta is meant to facilitate the flow of blood from the heart to the rest of the body. It is a unidirectional artery, meaning blood flows in only one direction. Facilitating unidirectional blood flow requires the aortic valve leaflets to open fully and close tightly as the heart beats. If a defect is present, as seen in bicuspid aortic valve disease, the valve may not be able to open or close as wide or as tightly as needed, allowing blood to flow back into the heart.
Although it is a congenital birth defect, symptoms of bicuspid aortic valve disease typically don’t show up until later in life, when components of the circulatory system begin to wear out. As the components age and the aortic valve narrows and hardens, the heart struggles to keep pumping fresh blood and regurgitated blood washed back from the defective valve. Increased tension leads to disease symptoms, typically during middle age. Resulting symptoms include difficulty breathing or shortness of breath, chest pains, and other symptoms of oxygen deprivation. In rare cases, bicuspid valve deformities can lead to cardiac arrest and other serious cardiopulmonary problems.
Surgical correction is required in approximately 80% of patients with bicuspid aortic valve disease. Replacing the defective valve, and sometimes parts of the aorta, usually resolves blood regurgitation problems and the resulting symptoms. If aneurysms or tears occur in the aorta due to the defective valve, further surgery, synthetic replacements, or cardiac follow-up is required.
The causes of bicuspid aortic disease are not fully understood. Some research suggests that the disease may be related to connective tissue diseases, as many patients also show signs in other areas of the circulatory system related to such conditions. Deformities or abnormalities in other arteries, high blood pressure, aortic aneurysm, and other problems are not uncommon in patients with bicuspid aortic valve disease.
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