左心室心肌致密化不全突变基因的研究进展  

Left ventricular noncompaction and gene mutation

作　　者：单丽沈[1] 康鑫源 于宪一[1] Shan Lishen Kang Xinyuan Yu Xianyi(Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang 110004, China)

机构地区：[1]中国医科大学附属盛京医院儿科,沈阳110004 [2]中国医科大学,沈阳110000

出　　处：《国际儿科学杂志》2017年第1期28-31,共4页International Journal of Pediatrics

基　　金：沈阳市科技计划项目（F15-139-9-35）;辽宁省自然科学基金项目（2013010017）

摘　　要：左心室心肌致密化不全（1eft ventricular noncompaction，LVNC）是由于胚胎初期心内膜及心肌细胞发育停止而引起的一种相对罕见心肌病，因该病主要累及左心室而得名。LVNC是散发性或家族性遗传疾病，具有明显的遗传异质性，它以X连锁及常染色体显性遗传。LVNC的遗传学特点为非单一性遗传，其致病基因及突变位点表现多样。现已经证明LVNC与多个基因突变密切相关，且与诱发其他心肌病的基因发生基因重叠。该文将对LVNC相关突变基因的研究进展作一综述。Left ventricular noncompaction （LVNC） is a relatively rare cardiomyopathy due to the cessation of endocardial and myocardial cells in the early embryo development. The disease mainly is involved in the left ventricle. LVNC is sporadic or familial genetic disease, which has obvious genetic heterogeneity. It is X linkage and autosomal dominant inheritance. The genetic characteristics of LVNC are not single inheritance, and its pathogenic gene and mutation site are diverse. It has been shown that LVNC has a close correlation with multiple gene mutations, and it is also overlap with the genes that caused other cardiomyopathy. In this paper, we will review the research progress of LVNC and related gene mutations.

关 键 词：左心室心肌致密化不全 基因突变 遗传异质性 

分 类 号：R725.4[医药卫生—儿科]