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The most common heart valve disease in humans is aortic stenosis which is a critical narrowing of the valve through which the heart has to pump blood to the rest of the body. This condition occurs in 2-3% of adults over 65 years of age and when it progresses to a severe stage leads to heart failure and need for valve replacement procedures (including surgery and catheter-based replacement). Aortic stenosis has a strong male predominance. The purpose of this study is to evaluate whether loss of Y-chromosome from circulating blood cells in males, which has been associated with TGF-beta-related fibrosis of other organs, is associated with the development of aortic stenosis.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Males with aortic stenosis | Males with mild or greater aortic stenosis (aortic valve area <1.5 cm2) due to calcific non-congenital aortic stenosis. |
| |
| Control males without aortic stenosis | Males without any diagnosis for aortic stenosis (matched for aortic stenosis group). |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Blood analysis for loss-of-Y chromosome | Diagnostic Test | Analysis for the percentage of circulating leukocytes with loss-of-y chromosome |
|
| Measure | Description | Time Frame |
|---|---|---|
| Loss of Y chromosome | This is a cross-sectional case-control study where the outcome measure is the percentage of circulating cells that have loss-of-Y chromosome | 1 day |
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Inclusion Criteria:
Exclusion Criteria:
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Males with calcific, non-congenital aortic stenosis and age-matched males without aortic stenosis.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Jonathan R Lindner, MD | Contact | 434 2979442 | jlindner@virginia.edu | |
| Bethany Gholson | Contact | 4342979444 | bethany.gholson@uvahealth.org |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Virginia | Recruiting | Charlottesville | Virginia | 22903 | United States |
All data generated during the course of this research will be made available in accordance with the Final NIH Statement of Sharing Research Data, Notice: NOT-OD-03-032. Data will be shared on the common data elements (CDE) system from the NIH CDE Repository.
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Open access
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| Type | Date | Date Unknown |
|---|---|---|
| Release | Apr 2, 2026 | |
| Reset | Apr 22, 2026 |
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| Release Date | Unrelease Date | Unrelease Date Unknown | Reset Date | MCP Release Number |
|---|---|---|---|---|
| Apr 2, 2026 | Apr 22, 2026 |
| ID | Term |
|---|---|
| D001024 | Aortic Valve Stenosis |
| D003966 | Camurati-Engelmann Syndrome |
| ID | Term |
|---|---|
| D000082862 | Aortic Valve Disease |
| D006349 | Heart Valve Diseases |
| D006331 | Heart Diseases |
| D002318 | Cardiovascular Diseases |
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| ID | Term |
|---|---|
| D006403 | Hematologic Tests |
| ID | Term |
|---|---|
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D008919 | Investigative Techniques |
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Blood samples containing leukocytes
| D014694 |
| Ventricular Outflow Obstruction |
| D010009 | Osteochondrodysplasias |
| D001848 | Bone Diseases, Developmental |
| D001847 | Bone Diseases |
| D009140 | Musculoskeletal Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |