在T波逆转的年轻运动员中基因检测的诊断效率
Nabeel Sheikh1, Michael Papadakis1, Mathew Wilson2
1St. George's University of London, United Kingdom (N.S., M.P., A.M., T.H., E.R.B., S.S.).
Circulation
|May 17, 2018
概括
在运动员中进行T波逆转 (TWI) 的基因测试,除了临床评估之外,几乎没有其他诊断. 基因检测的诊断效果是临床评估的一半,
科学领域:
- 心脏病学
- 运动医学
- 遗传学
背景情况:
- 在心肌病患者和一些运动员中,T波逆转 (TWI) 是常见的,其临床意义往往不清楚.
- 大约25%的黑人运动员和5%的白人运动员在没有明确的临床原因的情况下出现TWI.
研究的目的:
- 评估TWI运动员基因检测的诊断效果,超出标准的临床评估.
主要方法:
- 调查了100名无症状的运动员 (50名黑人,50名白人),年龄在14至35岁之间,TWI和心声图正常.
- 使用综合性临床评估,包括运动测试,心电图,心脏核磁共振,以及对心肌病和离子通道疾病的311基因组.
主要成果:
- 21% 的运动员在临床上接受了心脏病诊断; 其中38. 1% 是基因阳性.
- 在没有临床表型的运动员中,基因检测发现了2. 5%的突变.
- 新诊断的心肌病在白人运动员中 (30%) 比黑人运动员 (12%) 更为普遍.
结论:
- 与临床评估相比,运动员TWI遗传检测的诊断效果较低.
- 基因检测仅在2.5%的病例中有助于额外的诊断,这表明在常规实践中有用性有限.
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