Endocardial fibroelastosis

Endocardial fibroelastosis (EFE) is a rare congenital heart disorder that is characterized by a thickening within the muscular lining of the heart chambers (the endocardium) due to an increase in the amount of supporting connective tissue and elastic fibers. It is an uncommon cause of unexplained heart failure in infants and children. It is one component of HEC syndrome.

EFE has two distinct genetic forms, each having a different mode of inheritance. An x-linked recessive form, and an autosomal recessive form have both been observed.

The term was introduced by Weinberg and Himmelfarb in 1943.

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