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The BAVgenetics Investigators want to find the genetic causes of bicuspid aortic valve disease and aortic aneurysm and dissection that are also associated with bicuspid aortic valve disease.

Bicuspid aortic valve disease is the most common congenital cardiac abnormality in adults.  Normally the aortic valve is made of three cusps and looks like the Mercedes Benz emblem.  In about 1:100 people, the valve has only two cusps.  That means it doesn't open as widely and restricts flow a little bit.  That’s usually not a problem until much later in life, when the valve gets “worn out”.

The aortic valve is developed while in the mother’s womb.  When you are born you either have, or do not have, a bicuspid aortic valve.  It is not a valvular abnormality that develops over time.  However the consequences of the slightly narrowed valve mean that may need replacement.

For most of our adult lives this is not a problem, but in a proportion of people the valve has to be replaced, usually at about the age of 40-60.  In a smaller proportion of people the aorta (the main artery leading away from the aortic valve) gets larger (called an aneurysm) and may tear (called a dissection).

A bicuspid aortic valve is diagnosed using an ultrasound examination of the heart (an echocardiogram).  The aorta can also be examined at the same time.  This is a painless 20 minute procedure done in an office or hospital.

There is a moderately strong inheritance of bicuspid aortic valve.  That means if one of your parents has a bicuspid aortic valve, there is a slightly increased risk of you having one as well.  However, the risk is still low; remember that only 1:100 people have a bicuspid aortic valve.

BAV Genetics

email: contact@bav-genetics.org

Simon C. Body, MD, MPH
Brigham and Women's Hospital
Department of Anesthesiology, Perioperative and Pain Medicine
75 Francis Street
Boston, MA 02115

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