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Updated: Jun 4, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Unmasking Primary Carnitine Deficiency as a Mimic of Hypertrophic Cardiomyopathy

Sarah G Stafford1, Charlie J Sang2, Brian C Jensen2

  • 1Department of Internal Medicine and Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

JACC. Case Reports
|December 18, 2024
PubMed

Insights

Primary carnitine deficiency can mimic hypertrophic cardiomyopathy, potentially leading to misdiagnosis. Early detection is crucial for effective management and family screening.

Area of Science:

  • Cardiology
  • Metabolic Disorders
  • Genetics

Background:

  • Primary carnitine deficiency (PCD) is a rare inherited metabolic disorder affecting fatty acid oxidation.
  • PCD can present with cardiac manifestations that overlap with other cardiomyopathies.
  • Misattribution to sarcomeric protein dysfunction in hypertrophic cardiomyopathy (HCM) is possible, especially in genotype-negative cases.

Keywords:
geneticshypertrophic cardiomyopathy mimicshypertrophic cardiomyopathy phenocopiesprimary carnitine deficiency

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