【摘要】 左心室心肌致密化不全(LVNC)是一种罕见的先天性与遗传相关的心肌病,主要累及左心室,偶累及右心室,形态学上表现为大量突出的肌小梁,心肌外层薄而致密,存在深陷的小梁隐窝和海绵样心内膜。LVNC可孤立存在或与其他先天性心脏畸形并存,具有显著的遗传异质性,遗传学研究呈非单一性遗传特点,其致病基因及突变位点表现多样,无特异性。近年来,基因突变成为LVNC的研究热点,常见的有常染色体显性遗传和线粒体遗传。LVNC致病基因的研究有助于揭示LVNC的致病机制,并有利于LVNC的早期诊治及预后的改善。更多还原

【Abstract】 Left ventricular non-compaction( LVNC),a kind of rare congenital myocardium cardiomyopathy,is presented as prominent ventricular myocardial trabeculations and the thin compacted outer layer,also characterized by a spongelike endocardium and deep intertrabecular recesses. LVNC can exist in isolation or with other congenital heart deformities,with significant genetic heterogeneity,non-single genetic characteristics,and the pathogenic gene and mutation sites are diverse,non-specific. In recent years,gene mutation has become a hotspot of LVNC,common with autosomal dominant inheritance and mitochondrial inheritance. The study of pathogenicity of LVNC is helpful to reveal the pathogenic mechanism of LVNC and to improve the early diagnosis and treatment,and prognosis of LVNC.更多还原