A Study to Establish Genomic Bio Signatures of Ascending Aortic Aneurysms in Patients With Bicuspid and Tricuspid Aortic Valve Disease With Aortic Stenosis
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 91
- 试验地点
- 1
- 主要终点
- Determine differences in genetic expression profiles using mRNA transcriptional analysis
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
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
- •Patients > or = to 18 years of age
- •Presenting with aortic stenosis and to undergo elective aortic valve replacement or repair with or without aortic aneurysm dilation repair
- •Able to sign informed consent document
排除标准
- •Patients unable to provide informed consent for any reason
- •Patients with predominant aortic regurgitation valve disease
- •Patients with other known connective tissue disorders (such as Marfan's Syndrome, Ehlers-Danlos Syndrome)
研究组 & 干预措施
45 specimens collected from TAV patients
15 specimens collected from CABG pts
45 specimens collected from BAV patients
结局指标
主要结局
Determine differences in genetic expression profiles using mRNA transcriptional analysis
时间窗: 12 month
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.
次要结局
- Determine differences in the association between genetic expression profiles and aortic dilation in the two aortic valve disease groups.(12 months)
- Determine the association between expression of inflammatory markers/impaired response to oxidative stress and stenotic aortic valve disease.(12 months)