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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 45 specimens collected from BAV patients | |||
| 45 specimens collected from TAV patients | |||
| 15 specimens collected from CABG pts |
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| 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 |
| 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 |
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Inclusion Criteria:
Exclusion Criteria:
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Hospital facility
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| Name | Affiliation | Role |
|---|---|---|
| William Brinkman, MD | The Heart Hospital Baylor Plano | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| The Heart Hospital Baylor Plano | Plano | Texas | 75093 | United States |
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| ID | Term |
|---|---|
| D000082862 | Aortic Valve Disease |
| ID | Term |
|---|---|
| D006349 | Heart Valve Diseases |
| D006331 | Heart Diseases |
| D002318 | Cardiovascular Diseases |
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Blood and Tissue
| 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 |