Asked for female, 46 years old from Bangalore
This can result in obstruction of blood flow across the valve, a condition called aortic stenosis and/or valve leakage, a condition called aortic valve regurgitation. The natural course of bicuspid aortic valve varies widely. There can be severe aortic stenosis at birth, due to incomplete opening of the valve leaflets. About 20-30% of patients with bicuspid aortic valve will have other family members affected. There is no exact genetic cause known, and the inheritance pattern can be very variable although there certainly appears to be a genetic component. In patients with bicuspid aortic valve with a known family history of valve disease or aortic disease, it is definitely recommended to screen all first-degree relatives with echocardiography. Most experts would recommend that echocardiographic screening be performed in all first-degree relatives of patients with bicuspid aortic valve. As mentioned above, the bicuspid aortic valve is a valvulo-aortopathy diagnosis, which means it affects the valve and the aorta. If the valve becomes severely leaky or severely tight, then operation is performed as per usual guidelines. These are basically if symptoms develop, or there is evidence of heart failure or heart muscle dysfunction. However many patients with bicuspid aortic valve will have aortic disease without significant valve disease and may need to undergo operation of the aorta aneurysm. Some patients will require both are done.
Operation for aortic aneurysm in patients with bicuspid aortic valve is recommended in those who have ascending aorta diameter >5.5 cm.