肥厚型心肌病基因型与磁共振表型的关联性研究进展

Association Between Genotypes and MRI-phenotypes in Hypertrophic Cardiomyopathy

肥厚型心肌病是一种常染色体显性遗传性疾病,其表型存在明显的异质性。近年来的许多研究一直致力于探究肥厚型心肌病基因型和影像表型的特点及关联,进而为通过影像表型预测基因突变类型及患者预后提供理论依据。目前,心脏磁共振成像技术在评价肥厚型心肌病中发挥着越来越重要的作用,现综述国内外肥厚型心肌病的基因型与磁共振表型的特征以及其关联性分析的研究进展。

Hypertrophic cardiomyopathy(HCM) is an autosomal dominant hereditary disease with obviously phenotypic heterogeneity.In recent years,there were many studies on exploring the characteristics and relationships of genotypes and phenotypes in HCM patients,in order to provide theoretical basis for predicting the type of disease-causing genes and patients’ prognosis based on imaging phenotype. At present,cardiac magnetic resonance imaging(CMR) plays an increasingly important role in the evaluation of HCM patients. This article reviews the research progress of characteristics and association between genotypes and CMR-phenotypes in the patients of HCM.