Endocardial fibroelastosis and primary carnitine deficiency due to a defect in the plasma membrane carnitine transporter

Michael J. Bennett, Daniel E. Hale, Rodney J. Pollitt, Charles A. Stanley, Sadick Variend

Research output: Contribution to journalArticlepeer-review

29 Scopus citations

Abstract

Endocardial fibroelastosis (EFE) has previously been shown to be associated with tissue carnitine deficiency, although the basis for the carnitine deficiency has not been documented. A patient with the classical features of EFE and marked deficiency of carnitine in heart muscle, skeletal muscle, and liver is presented in this report. Cultured skin fibroblasts from both parents demonstrated levels of carnitine uptake at 50% of the normal rate. This is consistent with heterozygosity for the plasma membrane carnitine transporter defect, indicating likely homozygosity for this recently recognized inborn error in the index patient.

Original languageEnglish (US)
Pages (from-to)243-246
Number of pages4
JournalClinical Cardiology
Volume19
Issue number3
DOIs
StatePublished - Mar 1996

Keywords

  • carnitrine deficiency
  • familial cardiomyopathy
  • mitochondrial beta oxidation
  • sudden infant death

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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