Progress in etiology of primary endocardial fibroelastosis / 国际儿科学杂志

ABSTRACT

Endocardial fibroelastosis(EFE),associated with diffuse endocardial thickening due to proliferation of fibrous and elastic tissue,is a rare cardiac disorder that mainly occurs in infants. Its etiology is unknown,viral infection,immunology and genetics have been reported having effects on the pathogenesis of EFE.However, its pathogenesis is not yet fully understood. Recently,with the improvement of genetic testing techniques,many studies have shown that a variety of genetic factors involved in the occurrence of EFE. The TAZ gene on the X chromosome,the Nexn gene on the autosome,the Nebulette gene,the CSRP3 gene,the Sarcomere protein gene,and endothelial to mesenchymal transition(EndMT)are confirmed to be involved in the pathogenesis.This provides a new basis for the early diagnosis and accurate treatment of primary endocardial fibroelastosis and helps to improve the prognosis of the disease. This article discussess the etiology of EFE,including viral infection,immunology and genetics,aiming at raising awareness of the pathogenesis of this disease.