Severe dilated cardiomyopathy and ventricular arrhythmia in a patient with Emery‐Dreifuss muscular dystrophy harboring a novel frameshift mutation in EMD
Severe dilated cardiomyopathy and ventricular arrhythmia in a patient with Emery‐Dreifuss muscular dystrophy harboring a novel frameshift mutation in EMD
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患有 EMD 新型移码突变的 Emery-Dreifuss 肌营养不良症患者出现严重扩张型心肌病和室性心律失常
DOI：
10.1111/ncn3.12552
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发表时间：
2021
影响因子：
0.4
通讯作者：
Toda Tatsushi
中科院分区：
文献类型：
--
作者：
Mitsutake Akihiko;Unuma Atsushi;Kawai Mizuho;Kubota Akatsuki;Ishiura Hiroyuki;Sakuishi Kaori;Shimizu Jun;Maki Hisataka;Amiya Eisuke;Hatano Masaru;Komuro Issei;Tsuji Shoji;Toda Tatsushi
我们报告一位55岁男性扩张型心肌病合并室性心动过速/室颤(VT/VF)的病例。他从小就有颈部和脚踝屈曲痉挛，24岁时被发现患有扩张型心肌病。包括药物和除颤器在内的密集心脏治疗未能改善他的心功能，心脏移植被认为是在55岁时提出的。关节痉挛和近端优势肌萎缩伴轻度无力提示为Emery-Dreifuss肌营养不良症(EDMD)。EDMD1的诊断是基于EMD的基因分析和肌肉活检显示的Emerin缺失。这名患者被列为心脏移植的候选患者，但由于持续的室速/室颤，他在3个月后去世。本病例强调了及时考虑心脏移植的必要性，即使在EDMD患者植入除颤器时也是如此。
We report a case of a 55‐year‐old man with dilated cardiomyopathy and ventricular tachycardia/ventricular fibrillation (VT/VF). He had contracture of neck and ankle flexion from infancy and was found to have dilated cardiomyopathy at the age of 24 years. Intensive cardiac treatment including medication and the use of a defibrillator failed to improve his cardiac function, and heart transplantation was indicated at the age of 55 years. Joint contractures and proximal dominant muscle atrophy with mild weakness suggested Emery‐Dreifuss muscular dystrophy (EDMD). The diagnosis of EDMD1 was made based on genetic analysis ofEMDand muscle biopsy showing the absence of emerin. The patient was listed as a candidate for heart transplantation, but he died 3 months later due to sustained VT/VF. The present case emphasizes the necessity of considering timely heart transplantation even when a defibrillator is implanted in patients with EDMD.
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