NCT01823432

Genetic Risks for Bicuspid Aortic Valve Disease

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 454 (actual)
• Sponsor: The University of Texas Health Science Center, Houston · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

Summary

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.

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.

Conditions

• Bicuspid Aortic Valve
• Unicuspid Aortic Valve

Timeline

• Start date: 2012-03-01
• Primary completion: 2022-09-19
• Completion: 2022-09-19
• First posted: 2013-04-04
• Last updated: 2022-09-21

Locations

1 site across 1 country: United States