瘤突变载体的微结构和微血管表现型和露骨多性心肌病
George Joy1,2, Christopher I Kelly3, Matthew Webber2,4,5
1Barts Heart Centre, Barts Health NHS Trust, London, UK (G.J., I.P., P.V., R.K.H., H.K., A.B., M.L., K.S., S.A.M., M.O., C.M., R.H.D., P.D.L., J.C.M., L.R.L.).
Circulation
|July 18, 2023
概括
肌细胞失调和微血管疾病 (MVD) 是高性心肌病 (HCM) 的早期指标. 这些变化即使没有过度缩也可以检测到,作为疾病修饰疗法的关键生物标志物.
科学领域:
- 心脏病学
- 生物标志物
- 医学成像
背景情况:
- 缩性心肌病 (HCM) 与肌细胞失调和微血管疾病 (MVD) 有关,可能发生在早期.
- 检测早期的表型发展对于新的疾病修饰疗法至关重要.
研究的目的:
- 评估心肌微观结构和MVD作为早期的疾病特异性生物标志物.
- 在明显 (基因型阳性/阴性) 和亚临床 HCM 中评估这些生物标志物.
- 探索微观结构,MVD,电变化和遗传因素之间的关系.
主要方法:
- 这是一项多中心研究,对206名受试者进行:明显的HCM (G+LVH+,G-LVH+),亚临床HCM (G+LVH-),以及健康的志愿者.
- 使用12导电图,定量 perfusion 心脏MRI 和心脏扩散张力成像 (DTI).
- DTI参数测量了分数异构,平均扩散度和第二个自身向量角度以评估微观结构.
主要成果:
- 与对照组相比,患有过度HCM的患者显著改变了微观结构和MVD.
- 亚临床HCM (G+LVH-) 也表现出改变的微观结构和MVD,表明早期变化.
- 肌细胞失调和MVD独立地与明显和亚临床HCM的异常ECG发现有关.
结论:
- 在明显的HCM中存在微观结构变化和MVD,并且在基因型阳性和阴性患者之间存在差异.
- 这些变化即使不存在突变载体的缩,也与心电图异常相关.
- 心肌微观结构和MVD作为早期的表型生物标志物, 对于疾病修饰疗法的时代至关重要.
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