Case report of familial sudden cardiac death caused by a DSG2 p.F531C mutation as genetic background when carrying with heterozygous KCNE5 p.D92E/E93X mutation

Case report of familial sudden cardiac death caused by a DSG2 p.F531C mutation as genetic background when carrying with heterozygous KCNE5 p.D92E/E93X mutation

Abstract Background Sudden cardiac death (SCD) induced by malignant ventricular tachycardia (MVT) among young adults with right ventricular cardiomyopathy/dysplasia (ARVC/D) is a devastating event. Parts of ARVC/D patients have a mutation in genes encoding components of cardiac desmosomes, such as d...

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Bibliographic Details
Main Authors: Yubi Lin, Jiana Huang, Siqi He, Ruiling Feng, ZhiAn Zhong, Yang Liu, Weitao Ye, Xin Li, Hongtao Liao, Hongwen Fei, Fang Rao, Zhixin Shan, Chunyu Deng, Xianzhang Zhan, Yumei Xue, Hui Liu, Bin Zhang, Kejian Wang, Qianhuan Zhang, Shulin Wu, Xiufang Lin
Format: Article
Language:English
Published: BMC 2018-08-01
Series:BMC Medical Genetics
Subjects:
Sudden cardiac death
Arrhythmogenic right ventricular cardiomyopathy/dysplasia
Ventricular tachycardia
Electrical storm
Genetics
Online Access:http://link.springer.com/article/10.1186/s12881-018-0580-2

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http://link.springer.com/article/10.1186/s12881-018-0580-2

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