Endocardial fibroelastosis

Clinic

• EFE is a rare heart disorder usually occurring in children two years old and younger.

• EFE is characterized by a thickening of Endocardium due to an increase in the amount of supporting connective tissue and elastic fibres.
• It is an uncommon cause of unexplained heart failure in infants and children, and is one component of HEC syndrome.
  • HEC syndrome is a syndrome characterized by Hydrocephalus, Endocardial fibroelastosis and Cataracts.
• Fibroelastosis is strongly seen as a primary cause of Restrictive cardiomyopathy in children, along with cardiac amyloidosis, which is more commonly seen in progressive multiple myeloma patients and the elderly.
• A review cites references to 31 different diseases and other stresses associated with the EFE reaction. These include infections, cardiomyopathies, immunologic diseases, congenital malformations, even electrocution by lightning strike. 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.

Related disease

Endomyocardial fibrosis

Miasms

MMP