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.
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