扩展性心肌病中的性别差异:证据差距和未来方向
Sophie L V M Stroeks1, Shanelle Oko-Osi2, Arianna Arasu2
1Department of Cardiology, Maastricht University, Cardiovascular Research Institute Maastricht, Maastricht, the Netherlands; KU Leuven, Cardiovascular Sciences, Leuven, Belgium; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Amsterdam, the Netherlands.
Journal of the American College of Cardiology
|November 26, 2025
概括
性别显著影响扩张性心肌病 (DCM) 结果和遗传风险. 了解这些性别差异对于开发个性化风险模型和改善对所有DCM患者的护理至关重要.
科学领域:
- 心脏病学 心脏病学
- 遗传学 是一个遗传学.
- 医学中的性别差异.
背景情况:
- 扩张性心肌病 (DCM) 是心力衰竭和心脏移植的主要原因,影响250人中的1人.
- 人们认为DCM在男性中更常见,但女性的生物学性别差异与不足诊断不清楚.
- 现有的风险分层工具可能无法充分解决DCM的性别特异性变化.
研究的目的:
- 探索生物性别对DCM流行病学,病因学,临床表现和结果的影响.
- 分析性别特异性基因对DCM患者心律失常和心力衰竭风险的影响.
- 识别知识缺口,并倡导在DCM中进行性别特异性研究和风险模型.
主要方法:
- 对现有关于性别和DCM的研究进行系统审查和元分析.
- 对男性和女性DCM患者发生心律失常和心力衰竭的基因型特定风险的分析.
- 对影响DCM性别差异的遗传,环境和生殖因素的审查.
主要成果:
- 患有PLN,DSP和LMNA变异的男性DCM患者表现出比TTNtv和BAG3载体更高的心律失常率.
- 患有RBM20,DSP和PLN变异的女性DCM患者患心律失常风险最高;TTNtv携带者患心律失常风险最低.
- PLN和LMNA变种在两性中都存在最高心力衰竭风险;BAG3,RBM20和TTN变种在女性中显示出较低的心力衰竭率.
结论:
- 性别和基因型显著影响DCM的临床结果和遗传风险.
- 目前的性别中立风险分层工具可能导致对妇女的治疗不足.
- 在DCM研究中扩大女性的代表性和性别特异性风险模型的开发对于公平的个性化护理至关重要.
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