Genetic Risks for Bicuspid Aortic Valve Disease
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 454
- 试验地点
- 1
- 主要终点
- Thoracic aortic aneurysms and dissections
研究概览
简要总结
Bicuspid Aortic Valve (BAV) is the most common congenital heart malformation in adults, but very little is known about the genetic causes or risk factors for adverse outcomes. Currently, it is estimated that most cases of aortic stenosis in patients less than 65 years old are caused by BAVs. BAV patients are also at high risk to develop aneurysms of the ascending aorta, which may lead to aortic dissections. Dr. Prakash and his colleagues plan to use individual genetic information to identify persons with BAV who are at high risk for complications and to customize therapies.
详细描述
To be included in the study, patients must have a bicuspid or unicuspid aortic valve, documented by clinical history or imaging studies. If the aortic valve was replaced surgically, they may still be eligible. Participants will be asked to donate a single tube of blood and fill out a questionnaire. Patients will also be followed up by telephone or email about once a year to determine if they experience any medical complications related to Bicuspid Aortic Valve (BAV), such as aortic aneurysms, aortic dissections or valve disease. Patients may not be included if they are less than 18 years old at the time of recruitment or have a recognized genetic syndrome or genetic mutation such as Marfan or Ehlers-Danlos syndrome.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •At least 18 years of age
- •Diagnosis of bicuspid or unicuspid aortic valve
排除标准
- •Less than 18 years of age
- •Recognized syndrome or identified genetic mutation
结局指标
主要结局
Thoracic aortic aneurysms and dissections
时间窗: 10 years
Development of new aneurysms and/or dissections of the thoracic aorta
Aortic valve replacement surgery
时间窗: 10 years
次要结局
- Aortic enlargement(10 years)
研究者
Siddharth Prakash
Assistant Professor - Internal Medicine
The University of Texas Health Science Center, Houston