【MYBPC3和RYR2双基因突变引起肥厚型心肌病并发室性心动过速1例报告】。

Q3 Medicine 中华心血管病杂志 Pub Date : 2023-10-24 DOI:10.3760/cma.j.cn112148-20230531-00318

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

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

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。.

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来源期刊

中华心血管病杂志 Medicine-Cardiology and Cardiovascular Medicine

CiteScore

1.40

自引率

0.00%

发文量

10577

期刊介绍： The Chinese Journal of Cardiology , established in February 1973, is one of the major academic medical journals sponsored by the Chinese Medical Association and a leading periodical in the field of cardiology in China. It specializes in cardiology and related disciplines with a readership of more than 25 000. The journal publishes editorials and guidelines as well as important original articles on clinical and experimental investigations, reflecting achievements made in China and promoting academic communication between domestic and foreign cardiologists. The journal includes the following columns: Editorials, Strategies, Comments, Clinical Investigations, Experimental Investigations, Epidemiology and Prevention, Lectures, Comprehensive Reviews, Continuing Medical Education, etc.