由法布里病引起的高性阻塞性心肌病:对手术肌切除术的影响
Andrea Frustaci1, Valentino Borghetti2, Samuele Pentiricci3
1IRCCS San Raffaele Rome, Rome, Italy.
ESC heart failure
|September 16, 2023
概括
费布里病 (FD) 可以模仿高压阻塞性心肌病. 在手术隔膜肌切除术前对FD进行遗传查对于预防心力衰竭和指导酶替代疗法至关重要.
科学领域:
- 心脏病学 心脏病学
- 遗传学 是一个遗传学.
- 罕见疾病 罕见疾病
背景情况:
- 过高阻塞性心肌病 (HOCM) 可以作为遗传储存障碍的表型,特别是法布里病 (FD).
- 早期识别FD心肌病是管理心力衰竭风险的关键.
- 手术隔膜切除术 (SSM) 是一种治疗严重的HOCM的方法,但存在风险.
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