儿童扩张型心肌病相关基因的研究进展  

Advances in the study of genes associated with pediatric dilated cardiomyopathy

作　　者：戴莹 韩波 DAI Ying;HAN Bo(Graduate Department(Graduate Education Center)of Shandong First Medical University&Shandong Academy of Medical Sciences,Jinan 250117,China;Department of Pediatrics,The Provincial Hospital Affiliated to Shandong First Medical University,Jinan 250021,China)

机构地区：[1]山东第一医科大学(山东省医学科学院)研究生部(研究生教育中心),山东济南250117 [2]山东第一医科大学附属省立医院儿科,山东济南250021

出　　处：《山东第一医科大学(山东省医学科学院)学报》2025年第2期119-122,共4页Journal of Shandong First Medical University & Shandong Academy of Medical Sciences

基　　金：国家自然科学基金(81873498);山东省自然科学基金(ZR2023MH052);泰山学者专项经费(ts201511099)。

摘　　要：儿童扩张型心肌病(dilated cardiomyopathy,DCM)是一种以心脏扩张和收缩功能障碍为特征的严重心脏疾病,是儿童心肌病最常见的类型。儿童DCM的病因复杂,其中遗传因素发挥着重要作用。随着基因测序技术的发展,DCM的遗传学研究取得了显著进展。DCM具有明显的遗传异质性,涉及钙处理、细胞骨架、离子通道等功能的多种基因发生突变均可致病。本综述将重点探讨儿童DCM的主要致病基因及其突变特征,包括编码心肌结构蛋白[如肌联蛋白(titin,TTN)、核纤层蛋白A/C(lamin A/C,LMNA)等]的基因以及其他相关基因的功能和致病机制,旨在为临床和基础研究提供参考,以推动儿童DCM的早期诊断和有效治疗。Dilated cardiomyopathy(DCM)in children is a severe cardiac condition characterized by cardiac dilation and impaired contractile function,and it is the most common type of cardiomyopathy in the pediatric population.The etiology of pediatric DCM is complex,among which the genetic factor plays a significant role.With the advancement of genetic sequencing technologies,significant progress has been made in the genetic research of DCM.DCM exhibits substantial genetic heterogeneity,with mutations in various genes being involved in calcium handling,cytoskeletal dynamics,and ion channel function contributing to the disease.This review will focus on the major pathogenic genes associated with pediatric DCM and their mutation characteristics,including genes encoding cardiac structural proteins(such as TTN,LMNA,etc.)as well as the functions and pathogenic mechanisms of other related genes.This discussion aims to provide a reference for clinical and basic research,facilitating the early diagnosis and effective treatment of pediatric DCM.

关 键 词：儿童 扩张型心肌病 基因突变 基因学 

分 类 号：R54[医药卫生—心血管疾病]