Genetic Risks for Bicuspid Aortic Valve Disease
Status
Conditions
Details and patient eligibility
About
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.
Full description
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.
Enrollment
Sex
Ages
Volunteers
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
Trial design
454 participants in 1 patient group
Trial contacts and locations
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Data sourced from clinicaltrials.gov
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