超性心肌病变:疾病特异性的红旗的流行率
Niccolò Maurizi1,2, Emanuele Monda3, Elena Biagini4
1Service of Cardiology, University Hospital of Lausanne (CHUV) and University of Lausanne (Unil), Rue du Bugnon 46, BH16, 1011 Lausanne, Switzerland.
European heart journal
|February 10, 2025
概括
红旗在多变性心肌病 (HCM) 患者中很常见,超过34%的红旗在初级保健中可检测到. 非心脏红旗通常表明非sarcomeric原因,而心脏红旗表明sarcomeric HCM.
科学领域:
- 心脏病学 心脏病学
- 遗传学 是一个遗传学.
- 内部医学 内部医学
背景情况:
- 欧洲心脏病学会的指导方针主张在高性心肌病 (HCM) 中进行系统的红旗 (RF) 搜索,以个性化管理.
- 在各种HCM表型和临床环境中,RF的患病率和临床意义在很大程度上是未知的.
研究的目的:
- 为了调查患有多变性心肌病 (HCM) 的患者红旗 (RFs) 的患病率和临床意义.
- 为了确定不同临床环境中RF的诊断产量,用于检测HCM光谱.
主要方法:
- 分析了来自四个欧洲中心的818名被诊断为HCM的患者队列.
- 红旗 (RFs) 被系统地分为五个领域:家族史,体检,心电图,心声图和实验室测试.
主要成果:
- 39%的患者患有瘤基因变异,29%患有TTR和GLA变异,19%患有综合征性原因,13%没有可识别的原因.
- 总共有2979个RF被确定;34%是通过临床病史和单独的检查 (全科医生设置) 可检测的,而66%需要心电图和心声图 (心脏病学家设置).
- 非心脏射频在拉索病,遗传代谢和线粒体疾病 (48-57%) 中最常见,而心脏射频则主导了sarcomeric HCM (70-88%).
结论:
- 红旗在HCM患者中普遍存在,非心脏RF在非sarcomeric HCM中常见,心脏RF在sarcomeric HCM中常见.
- 超过34%的射频,特别是那些与罕见的HCM复制物相关的射频,可以在一般的环境中识别.
- 提高对HCM相关射频的基本诊断工具的认识和使用,可以显著提高诊断产量和资源配置.
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