在MYBPC3与MYH7相关的多变性心肌病的长期发病率
Matteo Beltrami1, Elisa Fedele2, Carlo Fumagalli1,3
1Cardiomyopathy Unit, Careggi University Hospital, Florence, Italy (M.B., C.F.).
Circulation. Genomic and precision medicine
|July 6, 2023
概括
与MYH7突变患者相比,患有MYBPC3突变的高增多性心肌病 (HCM) 患者长期患有严重缩功能障碍的风险更高. 这突出了这些常见的HCM遗传原因的独特疾病进展途径.
科学领域:
- 心脏病学 心脏病学
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
背景情况:
- 超性心肌病 (HCM) 常常是由肉瘤基因 MYBPC3 和 MYH7.7 中的突变引起的.
- 这些遗传突变在初始呈现时是无法区分的,这使得基因型-表型相关性具有挑战性.
- 分子和病理生理机制的差异表明随着时间的推移,不同的临床行为和对左心室 (LV) 功能的影响.
研究的目的:
- 研究MYBPC3与MYH7突变的HCM患者的长期临床行为和左心室 (LV) 功能变化.
- 通过比较这两个常见的HCM遗传子集之间的疾病进展来探索基因型-表型相关性.
主要方法:
- 402名患有致病性MYBPC3 (n=251) 或MYH7 (n=151) 突变的高心脏病患者的回顾性心声回顾.
- 平均9年的长度随访,分析LV缩和腹缩功能的变化.
- 考克斯多变量分析以确定严重缩功能障碍的独立预测因素.
主要成果:
- 与MYH7患者相比,MYBPC3患者出现阻塞的频率较低,并具有较低的初始LV射出分数.
- 两组都显示LV缩功能下降,但新发的严重LV缩功能障碍 (<50%射出分数) 在MYBPC3患者中显著增加 (15%与5%相比).
- MYBPC3突变状态是严重缩功能障碍的独立预测因素,与年龄和心房动一起.
结论:
- 与MYH7相关的HCM相比,与MYBPC3相关的HCM的长期患病率较高,尽管总体结果相似.
- 这些发现表明不同的病理生理路径影响MYBPC3和MYH7 HCM子集的临床进展.
- 了解这些基因型-表型差异对于改善高性心肌病的基因型-表型相关性至关重要.
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