X-linked cardiomyopathy presenting as contracted endocardial fibroelastosis

J Heart Lung Transplant. 2007 Mar;26(3):293-5. doi: 10.1016/j.healun.2006.12.001.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Cardiac Output, Low / etiology
  • Cardiomyopathies / complications*
  • Cardiomyopathies / diagnostic imaging
  • Cardiomyopathies / genetics*
  • Echocardiography
  • Endocardial Fibroelastosis / etiology*
  • Endocardial Fibroelastosis / pathology
  • Fatal Outcome
  • Genes, X-Linked*
  • Humans
  • Infant
  • Male
  • Pedigree
  • Severity of Illness Index