Genetic Risks for Bicuspid Aortic Valve Disease
Purpose
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.
Conditions
- Bicuspid Aortic Valve
- Unicuspid Aortic Valve
Eligibility
- Eligible Ages
- Over 18 Years
- Eligible Genders
- All
- Accepts Healthy Volunteers
- No
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
Study Design
- Phase
- Study Type
- Observational [Patient Registry]
- Observational Model
- Cohort
- Time Perspective
- Other
Arm Groups
| Arm | Description | Assigned Intervention |
|---|---|---|
| BAV Cohort | Patients with bicuspid or unicuspid aortic valves, regardless of surgical status. |
More Details
- Status
- Completed
- Sponsor
- The University of Texas Health Science Center, Houston
Study Contact
Detailed 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.