Look for the Bulge! Finding Aneurysms Saves Lives When a bicuspid aortic valve is found in someone, what does it mean to other blood relatives? They may have a seemingly normal aortic valve but still develop an aneurysm! Bicuspid aortic valve is a genetic condition that may affect more than one person in a family. 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 of bicuspid aortic disease. For example, in one family, two daughters had clearly identifiable bicuspid aortic valves and ascending aortic aneurysms. (One of those daughters had a brain aneurysm also.) 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 genetic 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 asecending 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. Examing the blood vessels of the head and the aorta for aneurysms will detect this often silent threat to BAV family members. 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! Contact Us Bicuspid Aortic Foundation 30100 Town Center Drive, Suite O-299 Laguna Niguel, CA 92677 Telephone Toll free in the US (888) 310-HOPE (4673) or (949) 495-0027 Fax: (949) 606-0413 Email: contactus@bicuspidfoundation.com Copyright © 2004 - 2009, Bicuspid Aortic Foundation. All Rights Reserved. The information on the Bicuspid Aortic Foundation website is provided for general informational purposes only. This information is not professional, legal, or medical advice. Any medications, products, or treatment mentioned are presented as information only and do not constitute any recommendation, approval, or endorsement. Any information is general in nature and is not a substitute for medical care. You should contact a physician or other qualified medical professional for advice about all health-related conditions. The Bicuspid Aortic Foundation, including its officers, directors, volunteers and any others acting on its behalf, individually and collectively, make no representations or warranties, express or implied, regarding the contents of this website, including its accuracy, completeness, or reliability. Any links or references to other websites provided on the Bicuspid Aortic Foundation website are made available as a convenience only. The Bicuspid Aortic Foundation has not reviewed all of the websites linked to this website and is not responsible for the content of these sites or your use of them. |
Bicuspid Aortic Valve Disease |
All aortic aneurysm and dissection in the chest |
For families and medical professionals, by families and medical professionals |
Creating a climate of hope, an atmosphere of caring, and a source of information for
all who are touched by thoracic aortic disease and the medical professionals
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Creating a climate of hope |
BICUSPID AORTIC FOUNDATION |
for BAV Family Members |
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Acute Aortic Syndrome |
Ascending Aortic Aneurysm, the most common Thoracic Aortic Aneurysm in BAV familes |