MYH7基因突变致儿童肥厚型心肌病的研究进展  

Recent research on childhood hypertrophic cardiomyopathy caused by MYH7 gene mutations

作　　者：郑奎 刘露(综述) 张英谦(审校)[2] ZHENG Kui;LIU Lu;ZHANG Ying-Qian(Department of Cardiology,Hebei Children's Hospital/Hebei Provincial Key Laboratory of Pediatric Cardiovascular Disease,Shijiazhuang 050031,China)

机构地区：[1]河北医科大学研究生学院,河北石家庄050017 [2]河北省儿童医院心内科/河北省小儿心血管重点实验室,河北石家庄050031 [3]河北北方学院研究生学院,河北张家口075132

出　　处：《中国当代儿科杂志》2023年第4期425-430,共6页Chinese Journal of Contemporary Pediatrics

摘　　要：肥厚型心肌病(hypertrophic cardiomyopathy,HCM)是儿童中最常见的单基因遗传性心肌病。肌节基因[β-肌球蛋白重链(cardiac beta-myosin heavy chain,MYH7)、MYBPC3等基因]突变是HCM最常见的遗传学病因,其中以MYH7基因突变最常见,占30%~50%。MYH7基因突变具有受环境因素影响、可合并多个基因变异,以及年龄依赖的外显率等特点,使患儿临床表型不一或重叠,包括多种心肌病和骨骼肌疾病。目前关于MYH7基因突变导致儿童HCM的发病机制、病程及预后尚不明确。该文通过总结MYH7基因突变导致HCM可能的发病机制、临床表型及治疗,以期有利于患儿的精准预后评估、个体化管理及治疗。Hypertrophic cardiomyopathy(HCM)is the most common monogenic inherited myocardial disease in children,and mutations in sarcomere genes(such as MYH7 and MYBPC3)are the most common genetic etiology of HCM,among which mutations in the MYH7 gene are the most common and account for 30%-50%.MYH7 gene mutations have the characteristics of being affected by environmental factors,coexisting with multiple genetic variations,and age-dependent penetrance,which leads to different or overlapping clinical phenotypes in children,including various cardiomyopathies and skeletal myopathies.At present,the pathogenesis,course,and prognosis of HCM caused by MYH7 gene mutations in children remain unclear.This article summarizes the possible pathogenesis,clinical phenotype,and treatment of HCM caused by MYH7 gene mutations,in order to facilitate the accurate prognostic evaluation and individualized management and treatment of the children with this disorder.

关 键 词：肥厚型心肌病 MYH7基因 基因突变 儿童 

分 类 号：R725.4[医药卫生—儿科]