通过组织多普勒成像早期检测法布里心肌病
Maurizio Pieroni1, Cristina Chimenti, Roberta Ricci
1Department of Cardiology, Catholic University, Rome, Italy.
Circulation
|April 2, 2003
概括
组织多普勒成像检测到在左心室缩 (LVH) 发生之前,在法布里心肌病中心肌速度下降. 这使得在患有α-Galactosidase A缺乏症的患者中能够进行早期诊断和酶替代疗法.
科学领域:
- 心脏病学 心脏病学
- 遗传学 是一个遗传学.
- 医疗成像医学成像
背景情况:
- 费布里心肌病的诊断依赖于检测左心室缩 (LVH) 在阿尔法-Galactosidase A 缺乏的患者.
- 目前的非侵入性方法缺乏临床前诊断的能力,延迟了必要的酶替代疗法.
研究的目的:
- 评估组织多普勒成像 (TDI) 在Fabry心肌病的临床前诊断中的有效性.
- 在LVH发作之前识别早期心脏参与标志物.
主要方法:
- 研究了三个组:患有LVH的Fabry患者,没有LVH的Fabry患者和健康的对照.
- 使用TDI的2D回声心脏学来测量心肌环形速度 (Sa, Ea, Aa) 和衍生比率 (Ea/Aa, E/Ea).
- 与内心肌活检结果和对糖脂沉积物的组织学分析相关的TDI发现.
主要成果:
- 与对照组相比,所有突变阳性患者的Sa,Ea和Aa速度都降低了.
- 在突变阳性患者中,Ea/Aa比率明显较低,E/Ea比率较高.
- 与没有LVH的患者相比,LVH患者的收缩/放松速度和变化的比率减少得更明显.
结论:
- 费布里心肌病的特点是肌肉心脏收缩和放松速度的减少,可以通过TDI检测到,甚至在LVH发展之前.
- TDI使法布里心肌病的临床前诊断成为可能,促进了及时的酶替代疗法.
- 组织多普勒成像是早期发现和管理法布里心肌病的宝贵工具.
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