心脏磁共振成像与 TMEM43 致心律失常性心肌病的临床结果

IF 3.8 Q1 RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING Radiology. Cardiothoracic imaging Pub Date : 2023-12-01 DOI:10.1148/ryct.230155
João Matos, Emmi Helle, Melanie Care, Yasbanoo Moayedi, Michael H Gollob, Paaladinesh Thavendiranathan, Danna Spears, Kate Hanneman
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引用次数: 0

摘要

致心律失常性心肌病是一种可累及双心室的遗传性心肌病。目前已发现多个致心律失常性心肌病的致病基因,其中包括 TMEM43。然而,迄今为止,有关 TMEM43 变体患者心脏磁共振成像结果的数据非常有限。本病例系列描述了 14 例 TMEM43 变异患者的心脏磁共振成像结果和临床预后,其中 8 例(57%)为致病性 p.Ser358Leu 变异(6 例女性患者;平均年龄为 33 岁 ± 15 [SD]),6 例(43%)为意义不明的 TMEM43 变异(3 例女性患者;平均年龄为 38 岁 ± 11)。核磁共振成像结果显示,8 名患者(57%)存在左心室收缩功能障碍,4 名患者(29%)存在右心室功能障碍。在九名有晚期钆增强成像的患者中,七名(78%;均为心外膜下)患者出现左心室晚期钆增强。总之,TMEM43变异与心外膜下晚期钆增强和左心室功能障碍的高发病率有关。关键词:心律失常性心肌病致心律失常性心肌病 致心律失常性右室心肌病 TMEM43 心脏核磁共振成像 基因变异体 本文有补充材料。
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Cardiac MRI and Clinical Outcomes in TMEM43 Arrhythmogenic Cardiomyopathy.

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.

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