Endocardial Fibroelastosis (EFE)

Endocardial Fibroelastosis, also known as endomyocardial fibroelastosis, is related to barth syndrome and hypoplastic left heart syndrome. An important gene associated with Endocardial Fibroelastosis is TAFAZZIN (Tafazzin, Phospholipid-Lysophospholipid Transacylase), and among its related pathways/superpathways are Cardiac conduction and 22q11.2 copy number variation syndrome. Affiliated tissues include heart and lung, and related phenotypes are cognitive impairment and hypoglycemia