A Study to Identify Differences in Gene Expression in Patients With Bicuspid and Tricuspid Valve Disease

A Study to Establish Genomic Bio Signatures of Ascending Aortic Aneurysms in Patients With Bicuspid and Tricuspid Aortic Valve Disease With Aortic Stenosis

For this study, blood and tissue samples will be collected in order to perform genetic testing to help researchers gather information about this disease and how and why it affects some patients more than others.

Study Overview

• Status: Completed
• Conditions: Aortic Valve Disease

Detailed Description

The cause of bicuspid aortic valve (BAV) and its associated co morbidities is unknown. There is, however, evidence supporting a genetic cause for the BAV, Pedigree analysis of familial clustering initially directed investigators to a genetic cause of BAV. Subsequent studies on BAV patients using linkage analysis have demonstrated high heritability.

Early identification of those patients with BAV disease who are at risk for ascending aneurysm formation and its complications may allow early intervention to prevent rupture, dissection and emergent cardiac surgery in at risk patients. Conversely, identification of those patients with BAVs not at risk for aortic aneurysm formation would delineate which patients do not need close follow up of aortic size or prophylactic ascending aortic replacement at time of aortic valve replacement.

• Study Type: Observational
• Enrollment (Actual): 91

Contacts and Locations

Study Locations

• United States
  • Texas
    • Plano, Texas, United States, 75093
      • The Heart Hospital Baylor Plano

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

Hospital facility

Description

Inclusion Criteria:

• Patients > or = to 18 years of age
• Presenting with aortic stenosis and to undergo elective aortic valve replacement or repair with or without aortic aneurysm dilation repair
• Able to sign informed consent document

Exclusion Criteria:

• Patients unable to provide informed consent for any reason
• Patients with predominant aortic regurgitation valve disease
• Patients with other known connective tissue disorders (such as Marfan's Syndrome, Ehlers-Danlos Syndrome)

Study Plan

How is the study designed?

Number of groups / cohorts

3

Cohorts and Interventions

Group / Cohort
45 specimens collected from BAV patients
45 specimens collected from TAV patients
15 specimens collected from CABG pts

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Determine differences in genetic expression profiles using mRNA transcriptional analysis	Determine differences in genetic expression profiles using mRNA transcriptional analysis in the three groups: subjects with bicuspid aortic valves with aortic stenosis, subjects with tricuspid aortic valves with stenosis, and subjects without aortic valve disease.	12 month

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Determine differences in the association between genetic expression profiles and aortic dilation in the two aortic valve disease groups.	Determine differences in the association between genetic expression profiles and aortic dilation (in cm) among: subjects with bicuspid aortic valves and subjects with tricuspid aortic valves with aortic stenosis.	12 months
Determine the association between expression of inflammatory markers/impaired response to oxidative stress and stenotic aortic valve disease.	Determine differences between expression of inflammatory markers/impaired response to oxidative stress and stenotic aortic valve disease among: subjects with bicuspid aortic valves and subjects with tricuspid aortic valves with aortic stenosis.	12 months

Collaborators and Investigators

• Sponsor: Baylor Research Institute
• Investigators: Principal Investigator: William Brinkman, MD, The Heart Hospital Baylor Plano

Study record dates

Study Major Dates

• Study Start (Actual): June 20, 2010
• Primary Completion (Actual): September 23, 2022
• Study Completion (Actual): September 23, 2022

Study Registration Dates

• First Submitted: September 1, 2010
• First Submitted That Met QC Criteria: September 1, 2010
• First Posted (Estimated): September 3, 2010

Study Record Updates

• Last Update Posted (Actual): January 26, 2026
• Last Update Submitted That Met QC Criteria: January 23, 2026
• Last Verified: January 1, 2026

More Information

Terms related to this study

• Keywords: gene expression; aortic valve disease
• Additional Relevant MeSH Terms: Cardiovascular Diseases; Heart Diseases; Heart Valve Diseases; Aortic Valve Disease
• Other Study ID Numbers: 010-161