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

Autor: Hongwen Fei, Kejian Wang, Xiufang Lin, Ruiling Feng, ZhiAn Zhong, Zhixin Shan, Xianzhang Zhan, Fang Rao, Qianhuan Zhang, Jiana Huang, Siqi He, Xin Li, Bin Zhang, Hongtao Liao, Weitao Ye, Yubi Lin, Yumei Xue, Hui Liu, Shulin Wu, Yang Liu, Chunyu Deng
Jazyk: angličtina
Rok vydání: 2018
Předmět:
0301 basic medicine
Adult
Male
medicine.medical_specialty
lcsh:Internal medicine
Heterozygote
lcsh:QH426-470
Case Report
030204 cardiovascular system & hematology
Compound heterozygosity
Ventricular tachycardia
Right ventricular cardiomyopathy
Sudden cardiac death
03 medical and health sciences
Death
Sudden
0302 clinical medicine
Electrical storm
Internal medicine
medicine
Genetics
Humans
lcsh:RC31-1245
Genetics (clinical)
Exome sequencing
Arrhythmogenic Right Ventricular Dysplasia
Desmoglein 2
biology
Desmoplakin
business.industry
Dilated cardiomyopathy
medicine.disease
Arrhythmogenic right ventricular cardiomyopathy/dysplasia
lcsh:Genetics
030104 developmental biology
medicine.anatomical_structure
Death
Sudden
Cardiac
Ventricle
Potassium Channels
Voltage-Gated
Mutation
biology.protein
Cardiology
Female
business
Zdroj: BMC Medical Genetics
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-10 (2018)
ISSN: 1471-2350
Popis: 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 the DSG2 gene, which was identified in a family with ARVC/D using Whole Exome Sequencing (WES) and Sanger Sequencing. In all, Patient III:1 with ARVC/D carried the compound heterozygous mutations of DSG2 p.F531C and KCNE5 p.D92E/E93X, which were both inherited from her mother (II:2), who died of SCD. Carriers of DSG2p.F531C showed various phenotypes, such as ARVC/D, SCD, MVT and dilated cardiomyopathy. For III:1, there were significant low-voltage regions in the inferior-apical, inferior-lateral wall of the right ventricular epicardium and outflow tracts of the right ventricle. Under the guidance of a three-dimensional mapping system, MVT was successfully ablated with an epicardial–endocardial approach targeting for late, double or fragmental potentials after implantable cardioverter-defibrillator (ICD) electrical storms. No VT recurrence was observed during the one year of follow-up. Conclusions When coexisting with heterozygous KCNE5 p.D92E/E93X, heterozygous DSG2 p.F531C as a genetic background was found to predispose to ARVC/D, SCD and MVT, which were successfully ablated using an epicardial–endocardial approach. Electronic supplementary material The online version of this article (10.1186/s12881-018-0580-2) contains supplementary material, which is available to authorized users.
Databáze: OpenAIRE
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