Genetic Risks for Bicuspid Aortic Valve Disease

Completed

• Conditions: Bicuspid Aortic Valve; Unicuspid Aortic Valve

• Registration Number: NCT01823432
• Lead Sponsor: The University of Texas Health Science Center, Houston

Brief 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.

Study Timeline

• Study Start: 2012-03
• Study First Submitted: 2013-03-27
• Study First Submitted QC: 2013-04-02
• Study First Posted: 2013-04-04
• Status Verified: 2022-09
• Primary Completion: 2022-09-19
• Study Completion: 2022-09-19
• Last Update Submitted: 2022-09-19
• Last Update Posted: 2022-09-21

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 454

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

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Thoracic aortic aneurysms and dissections	10 years	Development of new aneurysms and/or dissections of the thoracic aorta
Aortic valve replacement surgery	10 years

Secondary Outcome Measures

Name	Time	Method
Aortic enlargement	10 years	Dilation of thoracic aorta, new or progressive

Trial Locations

Locations (1)

University of Texas Health Science Center Houston; 🇺🇸 Houston, Texas, United States