心肌致密化不全影像学诊断及基因研究现状  

Research status of the imaging diagnosis and gene studies of left ventricular noncompaction disease

作　　者：李方方[1] 任卫东[1] 吴丹[1] 宋光[1] 何欢[1] 

机构地区：[1]中国医科大学附属盛京医院超声科,辽宁沈阳111000

出　　处：《实用医院临床杂志》2016年第5期29-33,共5页Practical Journal of Clinical Medicine

摘　　要：左室心肌致密化不全(left ventricular noncompaction,LVNC)是由于心脏胚胎期致密化停滞所导致的心肌疾病,表现为心肌呈现两层结构,分别为增厚的非致密化层与较薄的致密化层,LVNC目前属于少发病,可单独存在也可合并其他心脏缺陷,可家族遗传也可散发,目前已发现很多基因突变位点,但是通过基因筛查发现的患者仍占少数。目前最常用的方法为二维心脏超声,同时,随着心脏磁共振(MRI,Magnetic Resonance Imaging)的发展,MRI也被越来越多地应用到LVNC的诊断中。LVNC目前尚无根治方法,因此临床仅限于对症治疗。本文主要从病理生理、影像学诊断、基因以及其治疗等方面对LVNC研究进展进行全面的介绍。Left ventricular noncompaction （LVNC） is a kind of disease that arises from the arrest of the process of heart compaction daring embryonic period, and is characterized by the presence of a two-layered myocardial structure with the thickening noncompacted layer and the thin compacted layer. LVNC is now considered as a rear form of primary cardiomyopathy, which can be isolate or with other malformation. Both familial and sporadic form can be found, and several responsible genes have been identified, even though only very few patients can be successfully genotyped. Two-dimentional eehocardiography is considered as the most common method in screening. At the same time, with the developing of Magnetic Resonance Imaging （MRI）, it gets more application in the diagnosis of LVNC. Specific effective therapies have not yet been found for LVNC. Therefore, all the treatments for it nowadays are related to the clinical symptoms. This article will review the pathophysiology, imaging, genes and the treatment of LVNC.

关 键 词：左室心肌致密化不全 基因 影像学诊断 治疗 

分 类 号：R541.104[医药卫生—心血管疾病]