家族性扩张型心肌病伴新突变（p.R429C）：一例报告

Familial dilated cardiomyopathy with a novel mutation (p.R429C): a case report.

作者信息

Li Kun, Zhao Lanting, Zhang Ping

机构信息

Cardiology Department, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Changping District, Beijing102218, China.

出版信息

Cardiol Young. 2020 Oct;30(10):1544-1546. doi: 10.1017/S1047951120002590. Epub 2020 Sep 11.

DOI:10.1017/S1047951120002590

PMID:32914734

Abstract

LMNA mutations cause a variety of inherited diseases referred to as laminopathies which are associated with a wide spectrum of disease phenotypes, ranging from skeletal muscle disease, pre-mature ageing, metabolic disorders, and cardiac abnormalities. We present a case of a 14-year-old boy with dilated cardiomyopathy induced by the LMNA mutation (p. R429C) and described its electrocardiogram and imaging features.

摘要

LMNA基因突变会引发多种被称为核纤层蛋白病的遗传性疾病，这些疾病与广泛的疾病表型相关，包括骨骼肌疾病、早衰、代谢紊乱和心脏异常。我们报告了一例由LMNA基因突变（p.R429C）诱发扩张型心肌病的14岁男孩病例，并描述了其心电图和影像学特征。