急性心肌炎的遗传结构与遗传性心肌病的重叠
Amrit S Lota1,2, Mark R Hazebroek3, Pantazis Theotokis1,2
1National Heart & Lung Institute (A.S.L., P.T., R.W., S.S., B.P.H., U.T., A.d.M., A.I., M.Y., M.J.H., R.E.J., R.W., R.B., M.N., J.L.R., A.P., J.G.F.C., P.J.R.B., D.J.P., J.S.W., S.K.P.), Imperial College London, UK.
Circulation
|September 26, 2022
概括
在8%的急性心肌炎患者中发现与扩张性心肌病 (DCM) 和心律失常性心肌病 (ACM) 相关的遗传变异. 这些遗传发现对患者管理和家庭查有重大影响.
科学领域:
- 心脏病学
- 遗传学
- 分子生物学
背景情况:
- 急性心肌炎可能是扩张性心肌病 (DCM) 或心律失常性心肌病 (ACM) 的先兆.
- 研究急性心肌炎的遗传变异对于了解疾病进展至关重要.
研究的目的:
- 在急性心肌炎患者中确定DCM和ACM遗传变异的频率.
- 评估这些遗传变异的临床后果.
主要方法:
- 一个基于伦敦和马斯特里赫特的336名急性心肌炎患者的群体研究.
- 与1053名健康对照者相比,针对心肌病相关基因的DNA测序.
- 主要测量结果是所有原因的死亡率,平均随访时间为5. 0年.
主要成果:
- 在8%的心肌炎病例中发现了DCM/ ACM的致病变体,而对照组< 1% (P=0. 0097).
- 在正常射出分数和心室失律的患者中观察到罕见的切断变异 (tv) 在ACM基因 (DSP-tv) 中.
- 在DCM基因 (TTN-tv) 中发现罕见的截断变异的丰富.
结论:
- 在8%的急性心肌炎患者中存在与DCM或ACM相关的遗传变异.
- 基因变异,特别是DSP-tv和TTN-tv,对治疗,风险分层和家庭查具有临床影响.
- 建议对急性心肌炎患者进行遗传咨询和检测,以指导治疗并识别有风险的患者.
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