Genetic Risks for Bicuspid Aortic Valve Disease

  • STATUS
    Recruiting
  • End date
    Nov 27, 2024
  • participants needed
    400
  • sponsor
    The University of Texas Health Science Center, Houston
Updated on 27 January 2021

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.

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.

Details
Condition Bicuspid Aortic Valve, Unicuspid Aortic Valve
Clinical Study IdentifierNCT01823432
SponsorThe University of Texas Health Science Center, Houston
Last Modified on27 January 2021

Eligibility

Yes No Not Sure

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
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