Genetic Risks for Bicuspid Aortic Valve Disease



Status:Recruiting
Conditions:Cardiology
Therapuetic Areas:Cardiology / Vascular Diseases
Healthy:No
Age Range:18 - Any
Updated:4/17/2018
Start Date:March 2012
End Date:November 2022
Contact:Siddharth Prakash, MD, PhD
Email:Siddharth.K.Prakash@uth.tmc.edu
Phone:713-500-7003

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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
We found this trial at
1
site
7000 Fannin St
Houston, Texas 77030
(713) 500-4472
Principal Investigator: Siddharth Prakash, MD, PhD
University of Texas Health Science Center at Houston The University of Texas Health Science Center...
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