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

N/ACompletedNCT01194362

Baylor Research Institute91 enrolled

Overview

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.

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

Conditions

Aortic Valve Disease

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

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)

Locations (1)

The Heart Hospital Baylor Plano

Plano, Texas, United States

Outcomes

Primary Outcomes

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.

Time frame: 12 month

Secondary Outcomes

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.

Time frame: 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.

Time frame: 12 months

Data from ClinicalTrials.gov

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