【摘要】 心内膜弹力纤维增生症（EFE）常见于婴幼儿，青少年和成年中较为少见，其病因不清，临床表现无明显特异性，无特殊针对治疗，预后较差。近年来，随着基因检测技术的发展，越来越多的EFE相关基因被发现，表明遗传因素在EFE的病理发展过程中起着重要的作用，为EFE的诊断和治疗提供了潜在的靶点。本文综述了EFE相关基因及其突变位点，为EFE患者的诊疗提供新的思路与方向，为阐明疾病发生发展及诊疗提供新的视角。更多还原

【Abstract】 Endocardial fibroelastosis(EFE) is mainly a disease of infants and young children, which is relatively rare in adolescents and adults. EFE has no clear etiology and specific clinical manifestations, even specialized treatment. Thus,its prognosis is poor. In recent years, with the development of genetic testing technology, more and more EFE related genes have been discovered, indicating that genetic factors play an important role in the pathological development of EFE,and provide potential targets for the diagnosis and treatment of the disease. This article mainly reviews the research progress of EFE related genes and mutation loci, and provides new perspectives for elucidating the occurrence,development, diagnosis and treatment of EFE.更多还原