[Hypertrophic cardiomyopathy complicating with ventricular tachycardia induced by MYBPC3 and RYR2 double gene mutations: a case report]

Z Y Fang; H Wang; Y B Wang; T Sun; F Cao; Y Y Bai

doi:10.3760/cma.j.cn112148-20230531-00318

[Hypertrophic cardiomyopathy complicating with ventricular tachycardia induced by MYBPC3 and RYR2 double gene mutations: a case report]

Zhonghua Xin Xue Guan Bing Za Zhi. 2023 Oct 24;51(10):1087-1089. doi: 10.3760/cma.j.cn112148-20230531-00318.

[Article in Chinese]

Authors

Z Y Fang¹, H Wang¹, Y B Wang¹, T Sun¹, F Cao¹, Y Y Bai¹

Affiliation

¹ Department of Cardiology, Second Medical Center, Chinese People's Liberation Army General Hospital, National Clinical Research Center for Geriatric Diseases, Beijing 100853, China.

PMID: 37859363
DOI: 10.3760/cma.j.cn112148-20230531-00318

Abstract

肥厚型心肌病（HCM）是一种常见的遗传性心肌病，临床表现差异较大，多数无临床症状，部分以心原性猝死为首发表现。该文报道1例家族性HCM合并室性心动过速的老年患者，基因测序发现该患者携带HCM4型的明确致病突变MYBPC3基因c.1504C>T杂合错义变异，以及可能与致心律失常右心室发育不良相关的RYR2基因c.6298C>T杂合错义变异，探讨了其临床特征及鉴别诊断，强调了HCM早期筛查、早期诊断、规范治疗的重要性。.

Publication types

Case Reports

MeSH terms

Cardiomyopathy, Hypertrophic* / genetics
Humans
Mutation
Phenotype
Ryanodine Receptor Calcium Release Channel / genetics
Tachycardia, Ventricular* / genetics

Substances

Ryanodine Receptor Calcium Release Channel
RyR2 protein, human
myosin-binding protein C