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SCN5A基因突变致家族性多源希浦系综合征一例
SCN5A Gene Mutation Associated Familial Multifocal Ectopic Purkinje-related Premature Contractions Syndrome: a Case Report
【摘要】 多源希浦系综合征,即MEPPC综合征,是一种心脏钠离子通道病。该综合征是由SCN5A基因突变所致,其临床主要表现为室性心律失常(室性早搏和阵发性室性心动过速)和扩张型心肌病。目前,国内外关于该综合征的报道很少。本文报道一例具有家族性发病特征的MEPPC综合征,通过分析该患者临床表现、心电图、超声心动图和基因检测结果,提高临床医师对该综合征的认识,为进一步治疗提供参考。
【Abstract】 Multifocal ectopic Purkinje-related premature contractions(MEPPC) syndrome is a kind of cardiac sodium channel disease. SCN5A gene mutations have been linked to the syndrome characterized by ventricular arrhythmias(premature ventricular contractions and paroxysmal ventricular tachycardia) and dilated cardiomyopathy. At present, there are few reports about the syndrome. This case report presents the patient’s clinical manifestations, electrocardiogram, echocardiogram and genetic test results, aiming to improve clinicians’ understanding of this syndrome and provide reference for further treatment.
【Key words】 SCN5A; multifocal ectopic Purkinje-related premature contractions syndrome; MEPPC; arrhythmia;
- 【文献出处】 中国循环杂志 ,Chinese Circulation Journal , 编辑部邮箱 ,2023年05期
- 【分类号】R54
- 【下载频次】34