X-linked Cardiomyopathy Presenting as Contracted Endocardial Fibroelastosis

Abstract

We report a case of familial contracted endocardial fibroelastosis (EFE) in a young boy presenting at 14 months of age with severe heart failure. A previous echocardiogram showed normal left ventricular (LV) size and systolic function. The family history was suggestive of X-linked cardiomyopathy. These findings are assessed in light of earlier reports of contracted EFE. © 2007 International Society for Heart and Lung Transplantation.