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| Name | Class |
|---|---|
| Brigham and Women's Hospital | OTHER |
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This study aims to identify the molecular genetic causes of the variability in development of calcific aortic valve disease in bicuspid and tricuspid aortic valves and their associated aortic dilation.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Bicuspid aortic valve | We wish to investigate the etiology of calcific aortic valve disease, and aortic dilation or aneurysm in patients with a bicuspid aortic valve undergoing aortic valve replacement or aortic surgery. |
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| Tricuspid aortic valve | Data and samples will be compared using a control group comprised of patients with a tricuspid aortic valve undergoing aortic surgery. |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Patients scheduled to undergo aortic valve replacement or aortic surgery at BIDMC will be approached for participation in this study. | Procedure | Adult patients undergoing aortic valve replacement (AVR) and/or aortic resection will be enrolled. |
| Measure | Description | Time Frame |
|---|---|---|
| Identification of expression signatures of aortic valve development and calcification in the macroscopically normal and abnormal portions of aortic valves excised during aortic valve replacement. | We will take a portion of the aortic valve and/or aortic tissue that is routinely excised for aortic valve or aortic replacement for expression analyses and generation of fibroblast cell lines. In collaboration with the Department of Pathology, we have established methods to take sufficient "normal" and abnormal tissue while allowing formal routine pathological evaluation. All tissue samples for expression analysis will be transported in iced RNALater and later frozen in a -80°C research freezer, prior to next generation sequencing. We may use tissue samples to develop cell lines for indefinite use. | 8 years |
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Inclusion Criteria:
Exclusion Criteria:
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The investigators wish to identify the molecular genetic causes of the variability in development of calcific aortic valve disease and aortic dilation in patients with a plan to undergo elective aortic valve replacement and/or ascending aortic surgery at BIDMC.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Beth Israel Deaconess Medical Center | Boston | Massachusetts | 02215 | United States |
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Broadly, in order to perform the study, we will collect DNA for genotyping and "discarded" aortic valve and aortic tissue.
| ID | Term |
|---|---|
| C562942 | Aortic Valve, Calcification of |
| D000082862 | Aortic Valve Disease |
| D001018 | Aortic Diseases |
| D001014 | Aortic Aneurysm |
| D001022 | Aortic Valve Insufficiency |
| ID | Term |
|---|---|
| D006349 | Heart Valve Diseases |
| D006331 | Heart Diseases |
| D002318 | Cardiovascular Diseases |
| D014652 | Vascular Diseases |
| D000783 | Aneurysm |
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