BACKGROUND Patients with some mutations in the lamin A/C (LMNA) gene are characterized by the presence of dilated cardiomyopathy (DCM), conduction abnormalities, ventricular tachyarrhythmias (VT), and sudden cardiac death (SCD). Various clinical features have been observed among patients who have the same LMNA mutation. Here, we show a family with cardiac laminopathy with a c.475G > T, p.E159* LMNA mutation, and a family history of conduction disorder, DCM, VT, and SCD. CASE PRESENTATION A proband (female) with atrial fibrillation and bradycardia was implanted with a pacemaker in her fifties. Twenty years later, she experienced a loss of consciousness due to polymorphic VT. She had a serious family history; her mother and elder sister died suddenly in their fifties and sixties, respectively, and her nephew and son were diagnosed as having DCM. Genetic screening of the proband, her son, and nephew identified a nonsense mutation (c.475G > T, p.E159*) in the LMNA gene. Although the proband's left ventricular ejection fraction remained relatively preserved, her son and nephew's left ventricular ejection fraction were reduced, resulting in cardiac resynchronization therapy by implantation of a defibrillator. CONCLUSIONS In this family with cardiac laminopathy with a c.475G > T, p.E159* LMNA mutation, DCM, SCD, and malignant VT occurred. Clinical manifestation of various atrial and ventricular arrhythmias and heart failure with reduced ejection fraction occurred in an age-dependent manner in all family members who had the nonsense mutation. It appears highly likely that the E159* LMNA mutation is related to various cardiac problems in the family of the current report.

中文翻译：

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例举c.475G> T，p.E159 * lamin A / C突变并伴有家族性传导障碍，扩张型心肌病和心源性猝死的病史。

背景技术在lamin A / C（LMNA）基因中具有某些突变的患者，其特征在于存在扩张型心肌病（DCM），传导异常，室性心律失常（VT）和心源性猝死（SCD）。在具有相同LMNA突变的患者中观察到各种临床特征。在这里，我们显示了一个患有c.475G> T，p.E159 * LMNA突变的心脏椎板病家族，以及家族性传导障碍，DCM，VT和SCD的家族史。病例介绍一名患有房颤和心动过缓的先证者（女性）在五十多岁时植入了起搏器。二十年后，由于多形性室速，她经历了意识丧失。她有严重的家族病史。她的母亲和姐姐分别于50岁和60岁突然去世，她的侄子和儿子被诊断患有DCM。对先证者，她的儿子和侄子的基因筛查确定了LMNA基因中的无意义突变（c.475G> T，p.E159 *）。尽管先证者的左心室射血分数仍然相对保留，但她的儿子和侄子的左心室射血分数却降低了，从而通过植入除颤器进行了心脏再同步治疗。结论在这个家族性心脏椎板病患者中，c.475G> T，p.E159 * LMNA突变，DCM，SCD和恶性室速发生。在所有无意义突变的家庭成员中，各种房性和室性心律不齐的临床表现以及射血分数降低的心力衰竭均以年龄相关的方式出现。E159 * LMNA突变很可能与本报告家族中的各种心脏问题有关。