Awareness Alert for BAV Families - Look for the Bulge When a bicuspid aortic valve is found in someone, what does it mean to other blood relatives? In checking other family members, the focus has been on the aortic valve. Generally, if the aortic valve appeared to have a normal three leaflet structure, the person was considered free from risk. But that is not the case. They may have, or over time develop, an aneurysm. The Bicuspid Aortic Foundation is aware of families with a variety of manifestations. For example, in one family, two daughters had clearly identifiable bicuspid aortic valves and ascending aortic aneurysms. When their mother was checked, she was told she had a normal trileaflet aortic valve. However, the mother did have an ascending aortic aneurysm . As more families with BAV are studied, it is clear that this condition can be complicated. Some family members have a normal-appearing three leaflet aortic valve, but their aorta is not normal, forming an aneurysm and sometimes dissecting (tearing). The following paper describes 13 families with BAV that were studied: Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance. Loscalzo ML, Goh DLM, Loeys B, Kent KC, Spevak PJ, Dietz HC. 2007. Am J Med Genet Part A 143A:1960-1967 It is important to note in this paper that in all 13 families, at least one person had an ascending aortic aneurysm with a three-leaflet aortic valve (considered normal). Dissection or rupture occurred in some of those tri-leaflet valve individuals. The authors wrote that a single defective gene may cause these abnormalities of the valve and aorta independently of each other. They recommend that "To avoid the risk of early death, it is essential that all first- degree relatives receive echocardiographic follow-up at regular intervals regardless of the presence or absence of a BAV. This assessment must include imaging of the aortic region above the STJ." While these authors mention echocardiograms (sound waves), this test may not adequately image the aorta, and another test such as an MRI or CT would be used to screen the entire aorta. In summary, when a BAV is found in someone, other family members are at risk of aneurysms. When being screened, ask your physicians to "Look for the Bulge". Finding aneurysms saves lives!