心肌致密化不全(NVM) 为一种新近被人们认识的预后极差的先天性心肌病。目前诊断的金标准仅为超声心动图和尸检，因此临床不仅漏诊、误诊率高，对于NVM患者心室功能的改变也尚待进一步研究。其发病机理尚不清楚，有国外学者认为该病为XqG4.5等基因突变，FKBP12等蛋白的改变所致。国内此领域尚无发现。本课题组通过前期八年多的研究，在多个家系的基因研究中发现，多数患者未见G4.5基因的突变，一位患者在G4.5基因上发现G/C点突变，但进一步RT-PCR研究证实，该突变不影响外显子的剪接。诸多发现与国外文献不相符合。本课题组的另一个新发现是：在数个家系中发现有典型肥厚型心肌病（HCM）患者，这两种家族性心肌病是否存在同源性，值得探讨。.本课题首次以斑点追踪技术对NVM左室功能进行分析，并通过对家族性HCM与NVM患者FKBP12蛋白的分析为探索其发病机制提供分子生物学依据。

Noncompaction of the ventricular myocardium (NVM) is a congenital cardiomyopathy, which is still a mystery both in clinic and pathogenesis . Some studies showed NVM is an autosomal dominant inheritant disease and mutations in the gene G4.5 on the Xq28 chromosomal region may be responsible for some familial cases. FKBP12 protain change may play a role in. But there is no genetic research results on NVM in China. Eight years of research on NVM families were carried out by this team and G/C mutation was found in G4.5 in one patient, while the splicing of exon was NOT affected. In some of the NVM families, Hypertrophic Cardio myopathy (HCM)patients were found. So, it is interesting to know the relationship between these two disease. .This is the first study in China, that discover NVM LV function by specle tracking imaging and study on the pathogenesis by analyzing FKBP12 protain.