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Abstract：
Arrhythmogenic cardiomyopathy is an inherited cardiomyopathy that can involve both ventricles. Several genes have been identified as pathogenic in arrhythmogenic cardiomyopathy, including TMEM43. However, there are limited data on cardiac MRI findings in patients with TMEM43 variants to date. In this case series, cardiac MRI findings and clinical outcomes are described in 14 patients with TMEM43 variants, including eight (57%) with the pathogenic p.Ser358Leu variant (six female patients; mean age, 33 years ± 15 [SD]) and six (43%) with a TMEM43 variant of unknown significance (three female patients; mean age, 38 years ± 11). MRI findings demonstrated left ventricular systolic dysfunction in eight (57%) patients and right ventricular dysfunction in four (29%) patients. Among the nine patients with late gadolinium enhancement imaging, left ventricular late gadolinium enhancement was present in seven (78%; all subepicardial) patients. In summary, TMEM43 variants are associated with high prevalence of subepicardial late gadolinium enhancement and left ventricular dysfunction. Keywords: Arrhythmogenic Cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy, TMEM43, Cardiac MRI, Genetic Variants Supplemental material is available for this article.
摘要：
心律失常性心肌病是一种遗传性心肌病，可累及两个心室。几个基因已被鉴定为心律失常性心肌病的致病性，包括TMEM43。然而,迄今为止,TMEM43变异患者的心脏MRI表现数据有限.在这个系列中,描述了14例TMEM43变异患者的心脏MRI表现和临床结果，包括8名(57%)具有致病性p.Ser358Leu变异体(6名女性患者；平均年龄，33岁±15[SD]）和6名（43％）具有未知意义的TMEM43变异（三名女性患者；平均年龄，38年±11）。MRI结果显示8例（57％）患者左心室收缩功能障碍，4例（29％）患者右心室功能障碍。在9例晚期钆增强成像患者中，7例(78%;所有心外膜下)患者存在左心室钆晚期增强。总之,TMEM43变异与心外膜下钆晚期增强和左心室功能障碍的高患病率相关。关键词：心律失常性心肌病，致心律失常性右心室心肌病,TMEM43心脏MRI,遗传变异补充材料可用于本文。
