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在一个大家族中,一种新型FLNC截断变异的变量临床表达

Orr Tomer¹, Smadar Horowitz-Cederboim¹, Dini Rivkin²

¹The Heart Institute and The Hadassah Center for Cardiogenetics, Hadassah Hebrew University Medical Center, Jerusalem, Israel.

International journal of cardiology

|February 15, 2024

概括

菲拉明-C (FLNC) 基因变异与遗传性心肌病和心脏突然死亡 (SCD) 有关. 级联查显示,FLNC变种家族中透率很高,突出显示需要先进的风险分层.

科学领域:

心血管遗传学心血管遗传学
分子心脏病学分子心脏病学
遗传流行病学遗传流行病学

背景情况:

菲拉明-C (FLNC) 基因变异与遗传性心肌病相关.
截断FLNC变种带有显著风险 (13-25%) 的突然心脏死亡 (SCD),经常发生在早期成年期.
这项研究调查了一大家庭,在两个SCD事件之后,他们发现了一种新的FLNC截断变种.

研究的目的:

在一个大家族中识别和描述FLNC变种携带者.
评估与新型FLNC截断变异相关的临床透率和表型.
评估心脏成像在诊断FLNC相关心肌病的有用性.

主要方法:

分子尸检发现了一种新的FLNC截断变种 (c.7467_7474del).
对32名家庭成员进行了连锁基因查.
变异携带者接受了全面的临床评估,包括心电图,霍尔特监测,心声学和心磁共振 (CMR).

主要成果:

确定了17名FLNC变种携带者,年龄在9-85岁之间.
到目前为止,航空公司没有报告任何重大不良事件.
临床发现包括右轴偏差 (60%),频繁的早发性心室收缩 (PVCs) (33%),轻度的左心室缩功能障碍,以及CMR (91%) 上特征性的晚期加多增强.

结论:

一个具有FLNC截断变异的大家族显示出高心肌病透率与可变的临床表达.
心脏磁共振 (CMR) 对于诊断FLNC相关心肌病症至关重要.
改进的风险分层策略对于管理这些家族中SCD风险至关重要.

关键词:

节律失常性心肌病变症 (arrhythmogenic cardiomyopathy) 是一种导致心律失常的心脏病变症.在 FLNC FLNC FLNC 的位置.纤维纤维-C 纤维化纤维突然的心脏病死亡.截断的变体是截断的变体

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