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This study is to elucidate the impact of germline mutations and clonal hematopoiesis (CHIP) on the progression of early aortic valve calcification in patients with bicuspid aortic valves. The study will be conducted over a recruitment period of one year and a follow-up observation period of two years. Considering a 2-year event rate and a 33% occurrence rate of clonal hematopoiesis, each group requires a minimum of 102 participants. Accounting for a 15% dropout rate, a total of 120 participants are needed for each group (type I error (α) = 5%, type II error (β) = 20%). Therefore, the total study population, including patients with normal aortic valve function, is set at 240 participants.
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| Measure | Description | Time Frame |
|---|---|---|
| Presence of germline mutation | 2 years follow-up | |
| Clonal hematopoiesis of indeterminate potential (CHIP) mutation | Clonal hematopoiesis of indeterminate potential (CHIP) is the presence of a clonally expanded hematopoietic stem cell caused by a leukemogenic mutation. | 2 years follow-up |
| Measure | Description | Time Frame |
|---|---|---|
| Progression of aortic valve calcification | Progression of aortic valve calcification measured by computed tomography (AV calcium score) or Echocardiography (Progression of AS/AR) | 2 years follow-up |
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Inclusion Criteria:
Exclusion Criteria:
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Patient who have bicuspid aortic valve
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Iksung Cho | Contact | 82-2-2228-8442 | iksungcho@yuhs.ac |
| Name | Affiliation | Role |
|---|---|---|
| Iksung Cho | Division of Cardiology, Severance Cardiovascular Hospital, Yonsei University College of Medicine | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Division of Cardiology, Yonsei University Health System, Yonsei University College of Medicine | Recruiting | Seoul | 03722 | South Korea |
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| ID | Term |
|---|---|
| D000082882 | Bicuspid Aortic Valve Disease |
| ID | Term |
|---|---|
| D006330 | Heart Defects, Congenital |
| D018376 | Cardiovascular Abnormalities |
| D002318 | Cardiovascular Diseases |
| D006331 | Heart Diseases |
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| D000082862 | Aortic Valve Disease |
| D006349 | Heart Valve Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |