多模态影像数据融合技术对家族肥厚型心肌病MYH7基因突变携带者的早期临床诊断

项目名称： 多模态影像数据融合技术对家族肥厚型心肌病MYH7基因突变携带者的早期临床诊断

项目编号： No.81501472

项目类型： 青年科学基金项目

立项/批准年度： 2016

项目学科： 医药、卫生

项目作者： 孙超

作者单位： 中国人民解放军第四军医大学

项目金额： 18万元

中文摘要： 家族肥厚型心肌病（FHCM）是一种最常见的遗传性心血管疾病，2014年欧洲心脏学会（ESC）指南公布FHCM一级亲属确诊标准是左室节段厚度大于等于13mm，文献和我们以往的实际临床工作发现厚度未及此标准的部分一级亲属超声心动图已出现舒张功能减低和心电图异常，然而目前除建议每年体检随访外，对于这部分家庭成员早期症状的诊断以及是否采取干预尚无明确定论。本项目拟通过结合多种影像诊断方法（超声心动图、心脏核磁和心电图）系统测量和评价心脏结构、血流以及整体和节段收缩和舒张功能、纤维化以及心脏电活动的改变，应用数据融合技术建立基因型和影像表型的关系，找出FHCM典型突变MYH7携带者无损影像检测的特征，判断FHCM患者的一级亲属是否MYH7突变基因的携带者以及是否开始发病。这些研究成果能对FHCM成员进行早期诊断，进行合理预防和指导个体化治疗，既合理地利用医疗资源，又减少了不必要的干预和并发症。

中文关键词： 家族肥厚型心肌病；多模态；数据融合；早期诊断；MYH7

英文摘要： Familial hypertrophic cardiomyopathy (FHCM) is one of the most common inherited cardiovascular diseases. The guideline of European Society of Cardiology (ESC) published in 2014 indicated the diagnosis standard of the FHCM first-degree relatives is the thickness of left ventricular thickness ≥13mm. However, for some FHCM relatives, both our findings and published references pointed out the diastolic dysfunction in echocardiography and abnormal electrocardiogram prior to reaching the 13mm-thickness of septum in our routine clinical practice. Till now, no confirmed conclusion has been reached about the early diagnosis and intervention of FHCM relatives except annual screening. This project aims to acquire and evaluate the cardiac structure, variations in blood flow and global and regional systolic and diastolic function, fibrosis and cardiac electrical activity by combining multiple imaging techniques (echocardiography, cardiac magnetic resonance imaging and ECG). The data fusion technique is applied to establish the relationship between the genotype and imaging phenotype in early diagnosis. This can be used for characterizing MYH7, one of FHCM typical mutations, using nondestructive imaging technique and to predict whether the disease of FHCM first-degree relatives is early onset. The outcome of this research can be used for early diagnosis of FHCM relatives, leading to reasonable prevention and effective personal treatment, appropriate use of medical resources, and reduction unnecessary intervention and complications.

英文关键词： Familial Hypertrophic Cardiomyopathy;multi-modality; data fusion;Preclinical diagnosis ;MYH7