心肌致密化不全的分子遗传学机制研究进展  

Advance in molecular genetics mechanism of noncompaction of ventricular myocardium

作　　者：张琪 洪楠超 王静[1] 陈丰原 孙锟[1] 于昱 Zhang Qi;Hong Nanchao;Wang Jing;Chen Fengyuan;Sun Kun;Yu Yu(Institute of Cardiovascular Development and Regenerative Medicine,Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine,Shanghai 200092,China)

机构地区：[1]上海交通大学医学院附属新华医院,心血管发育与再生医学研究所,200092

出　　处：《中国心血管杂志》2022年第1期85-89,共5页Chinese Journal of Cardiovascular Medicine

基　　金：国家自然科学基金(81974021、82170304);上海市自然科学基金面上项目(20ZR1435500)。

摘　　要：心肌致密化不全病因尚未完全明确。随着基因组学、二代测序技术的发展以及模式动物的广泛运用,已经从心肌致密化不全患者或模式动物中鉴定出一系列候选基因和染色体缺陷。本文对目前心肌致密化不全分子遗传学的最新成果进行综述,期望对后续研究和临床诊治提供帮助。The etiology of noncompaction of the ventricular myocardium(NVM)has not been fully clarified.With the development of next-generation sequencing technology and application of murine models,a series of candidate mutations and chromosomal abnormality have been identified in NVM.This review summarizes current knowledge of the genetic and molecular origins,to provide a basis for the subsequent systematic analysis of its molecular genetics,gradually revealing its pathogenesis from the perspective of molecular genetics and improving its clinical diagnosis and treatment.

关 键 词：心肌致密化不全 分子遗传学 病因学 

分 类 号：R542.2[医药卫生—心血管疾病]