限制性心肌病患者的临床特征,病因和存活率:单中心体验
Justyna A Szczygieł1, Piotr Michałek2, Grażyna Truszkowska3
1Department of Cardiomyopathy, National Institute of Cardiology, Warszawa, Poland. j.szczygiel@ikard.pl.
Kardiologia polska
|November 8, 2023
概括
对于没有轻链氨基粉症的限制性心肌病 (RCM) 患者来说,基因检测至关重要. 生物标志物如GDF-15,hs-TNT,NT-proBNP和心周溢液预测RCM的生存率很低.
科学领域:
- 心脏病学 心脏病学
- 遗传学 是一个遗传学.
- 心血管研究研究心血管研究
背景情况:
- 限制性心肌病 (RCM) 的知识是有限的,与心肌粉症 (CA) 不同.
- 对RCM的预后因素需要进一步阐明.
研究的目的:
- 为了确定RCM的病因和预后因素.
- 评估心脏生物标志物 (hs-TnT,GDF-15,NT-proBNP,sST2) 作为RCM中的死亡预测因素.
- 评估基因检测在RCM诊断中的作用.
主要方法:
- 招募了来自第三级心脏病科的36名RCM患者.
- 查了所有患者的CA,并对17名非CA患者进行了基因测试.
- 使用单变Cox模型,Kaplan-Meier分析和日志等级测试进行生存分析.
主要成果:
- 在86%的经测试RCM患者中确定了致病性/可能致病性基因变异,其中包括5种新型变异.
- 平均整体存活时间为29个月,有20例死亡和4例心脏移植.
- GDF-15,hs-TnT,NT-proBNP,血压,左心室中风体积,E/e'比率,TAPSE,早期透析三状环状速度,肺高血压和心周溢血显著影响了生存率.
结论:
- 推对RCM患者进行遗传检测,排除光链粉样性粉症.
- 对于RCM患者来说,无论病因如何,生存率仍然很差.
- 升高的GDF-15,hs-TNT,NT-proBNP,以及心周溢液的存在表明预后更差.
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