基因扩展心肌病患者预后的性别差异
Sophie L V M Stroeks1,2,3,4, Marco Merlo4,5, Nerea Mora-Ayestaran4,6
1Department of Cardiology, Maastricht University, Cardiovascular Research Institute Maastricht (CARIM), the Netherlands (S.L.V.M.S., M.A.S., R.E.W.v.L., M.T.H.M.H., A.G.R., M.F.H., E.A.V.J., S.R.B.H., J.A.J.V.).
Circulation. Heart failure
|September 24, 2025
概括
性别显著影响遗传扩张性心肌病 (DCM) 的长期结果. 患有致病变异的男性面临着更差的预后,突出显示了DCM中需要性别特异性风险预测的需要.
科学领域:
- 心脏病学 心脏病学
- 遗传学 是一个遗传学.
- 精准医学是一门精准的医学.
背景情况:
- 扩张性心肌病 (DCM) 是一种复杂的遗传性心脏病,其结果各不相同.
- 性别对基因特异性DCM预后的影响尚不清楚.
研究的目的:
- 根据其特定基因突变,调查性别如何影响基因DCM患者的长期预后.
- 分析左心室逆向重塑和不同DCM基因型的临床结果的基于性别的差异.
主要方法:
- 在4个国际中心进行了回顾性队列研究.
- 包括1716名DCM患者进行基因检测,分为7个基因型组.
- 随访时间中位数为6.7年,评估左心室重塑,死亡率,心力衰竭住院治疗,移植和心律失常.
主要成果:
- 与基因型阴性女性相比,患有致病变体的男性的结果明显较差,包括主要不良事件和心律失常,与基因型阴性女性相比.
- 在男性中,预后因基因而异,但在女性中不同;细胞骨/Z盘,细胞体和核包膜基因在男性中显示出最糟糕的预后.
- 左心室重塑在女性中是基因依赖的,TTN变异显示出最高的重塑率.
结论:
- 遗传因素和性别是DCM结果的关键预测因素.
- 将性别和遗传数据整合到风险模型中可以改善DCM患者的临床管理和结果.
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