Genetic Risks for Bicuspid Aortic Valve Disease

NCT ID: NCT01823432

Last Updated: 2022-09-21

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 454 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2012-03-31
• Study Completion Date: 2022-09-19

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.

Conditions

Bicuspid Aortic Valve; Unicuspid Aortic Valve

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: OTHER

Study Groups

BAV Cohort

Patients with bicuspid or unicuspid aortic valves, regardless of surgical status.

No interventions assigned to this group

Eligibility Criteria

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

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

The University of Texas Health Science Center, Houston

OTHER

Sponsor Role: lead

Responsible Party

Siddharth Prakash

Assistant Professor - Internal Medicine

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Siddharth Prakash, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

The University of Texas Health Science Center, Houston

Locations

University of Texas Health Science Center Houston

Houston, Texas, United States

Countries

United States

References

DiGregorio H, Mansoorshahi S, Carlisle SG, Tovar Pensa C, Watts A, McNeely C, Sabate-Rotes A, Yetman A, Michelena HI, De Backer JFA, Mosquera LM, Bissell MM, Andreassi MG, Foffa I, Hui DS, Caffarelli A, Kim YY, Citro R, De Marco M, Tretter JT, McBride KL, Body SC, Milewicz DM, Prakash SK; EBAV Investigators. Contribution of rare chromosome 22q11.2 copy number variants to non-syndromic bicuspid aortic valve. Heart. 2025 Feb 12;111(5):221-229. doi: 10.1136/heartjnl-2024-324669.

Reference Type: DERIVED

PMID: 39658198 (View on PubMed)

Related Links

http://www.johnritterresearchprogram.org/

John Ritter Research Program in Aortic and Vascular Disease

Other Identifiers

HSC-MS-11-0185

Identifier Type: -

Identifier Source: org_study_id