Article
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.
BMC medical genetics - 21 Aug 2018
Lin Yubi, Huang Jiana, He Siqi, Feng Ruiling, Zhong ZhiAn, Liu Yang, Ye Weitao, Li Xin, Liao Hongtao, Fei Hongwen, Rao Fang, Shan Zhixin, Deng Chunyu, Zhan Xianzhang, Xue Yumei, Liu Hui, Zhang Bin, Wang Kejian, Zhang Qianhuan, Wu Shulin, Lin Xiufang
Abstract excerpt
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 desmoglein-2 (DSG2), plakophilin-2 and desmoplakin. CASE PRESENTATION: Here we report a potentially pathogenic mutation in...
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