A Study to Identify Differences in Gene Expression in Patients With Bicuspid and Tricuspid Valve Disease
| Status: | Active, not recruiting |
|---|---|
| Conditions: | Cardiology |
| Therapuetic Areas: | Cardiology / Vascular Diseases |
| Healthy: | No |
| Age Range: | 18 - Any |
| Updated: | 7/14/2017 |
| Start Date: | September 2010 |
| End Date: | December 2017 |
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.
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.
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.
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)
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