纤维素C截断变体引起的心肌病的表现,自然史和风险分层
Marta Gigli1, Davide Stolfo1,2, Sharon L Graw3
1Cardiothoracovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), University of Trieste, Trieste, Italy (M.G., D.S., M.M., M.D.F., A.P., G.D.A., F.B., G.S.).
Circulation
|September 30, 2021
概括
纤维素C截断变体 (FLNCtv) 导致心律失常. 这项研究显示FLNCtv携带者面临心力衰竭和心律失常的高风险,
科学领域:
- 心脏病学
- 遗传学
- 分子生物学
背景情况:
- 菲拉明C截断变体 (FLNCtv) 与心律失常有关.
- FLNCtv的表现,自然史和风险分层仍未得到充分探索.
研究的目的:
- 开发FLNCtv载体中耐火性心力衰竭和危及生命的心律失常的风险概况.
- 在FLNCtv运营商的多中心队列中分析结果.
主要方法:
- 在10个医疗中心发现FLNCtv携带者.
- 编制的临床和结局数据,定义综合结局,包括死亡率,心脏移植和心室辅助装置植入.
- 与LMNA和DSP相关的节律失调性心肌病队伍的预后进行比较.
主要成果:
- 八十五名FLNCtv携带者 (42±15岁,53%男性) 呈现异质表型,包括扩张性和失常性心肌病.
- 在平均61个月的随访期间,22%的患者死亡/心脏移植/心脏病发作,15%的患者无节律性死亡/心脏病发作/心脏病发作,27%的患者心脏病发作/心脏病发作.
- 与LMNA和DSP携带者相比,FLNCtv携带者表现出类似的突然心脏死亡/主要心室节律失常;左心室喷射分数预测了D/HT/LVAD风险.
结论:
- 在第三级转诊患者中,心律失常的表型不同.
- 携带FLNCtv的人面临着危及生命的心律失常的严重风险.
- 在FLNCtv心肌病中,心律失常的风险与左心室功能障碍的严重程度没有直接相关.
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