Genetic Risks for Bicuspid Aortic Valve Disease
Genetic Risks for Bicuspid Aortic Valve Disease
Bicuspid Aortic Valve (BAV) is the most common congenital heart malformation in adults, but
 very little is known about the genetic causes or risk factors for adverse outcomes.
 Currently, it is estimated that most cases of aortic stenosis in patients less than 65 years
 old are caused by BAVs. BAV patients are also at high risk to develop aneurysms of the
 ascending aorta, which may lead to aortic dissections. Dr. Prakash and his colleagues plan to
 use individual genetic information to identify persons with BAV who are at high risk for
 complications and to customize therapies.
To be included in the study, patients must have a bicuspid or unicuspid aortic valve,
 documented by clinical history or imaging studies. If the aortic valve was replaced
 surgically, they may still be eligible. Participants will be asked to donate a single tube of
 blood and fill out a questionnaire. Patients will also be followed up by telephone or email
 about once a year to determine if they experience any medical complications related to
 Bicuspid Aortic Valve (BAV), such as aortic aneurysms, aortic dissections or valve disease.
 Patients may not be included if they are less than 18 years old at the time of recruitment or
 have a recognized genetic syndrome or genetic mutation such as Marfan or Ehlers-Danlos
 syndrome.
Inclusion Criteria:

 -  At least 18 years of age

 -  Diagnosis of bicuspid or unicuspid aortic valve

 Exclusion Criteria:

 -  Less than 18 years of age

 -  Recognized syndrome or identified genetic mutation