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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Circulating Acylcarnitines Associated with Hypertrophic Cardiomyopathy Severity: an Exploratory Cross-Sectional Study

Mark Jansen1,2,3,4, A F Schmidt5,6,7,8,9, J J M Jans10,6

  • 1Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands. m.jansen-48@umcutrecht.nl.

Journal of Cardiovascular Translational Research
|June 6, 2023
PubMed

Insights

Certain acylcarnitines may serve as biomarkers for hypertrophic cardiomyopathy (HCM) severity. Elevated levels of specific acylcarnitines correlate with increased heart wall thickness and reduced ejection fraction in HCM patients.

Area of Science:

  • Cardiovascular Genetics
  • Biomarker Discovery
  • Metabolomics

Background:

  • Hypertrophic cardiomyopathy (HCM) is a prevalent genetic heart condition marked by myocardial hypertrophy.
  • HCM presents with variable clinical severity, potentially leading to outflow tract obstruction, heart failure, and sudden cardiac death.

Purpose of the Study:

  • To investigate circulating acylcarnitines as potential biomarkers for assessing HCM severity.
  • To explore the association between specific acylcarnitines and clinical parameters of HCM.

Main Methods:

  • An exploratory cross-sectional study involving 124 MYBPC3 founder variant carriers.
  • Utilized elastic net and multivariable linear regression to analyze acylcarnitine levels in relation to HCM severity and cardiac metrics.
  • Categorized participants into severe HCM, mild HCM, and phenotype-negative groups.

Main Results:

  • Eight acylcarnitines were identified as associated with HCM severity.
  • Several acylcarnitines (C3, C4, C6-DC, C8:1, C16, C18, C18:2) were significantly elevated in severe HCM compared to controls.
  • Acylcarnitines C6-DC and C8:1 showed significant correlations with maximum wall thickness, and C6-DC with ejection fraction.

Conclusions:

  • Circulating acylcarnitines show promise as biomarkers for evaluating HCM severity.
  • Further prospective studies are necessary to establish the prognostic value of these acylcarnitine biomarkers.

Keywords:
AcylcarnitineBiomarkerHypertrophic CardiomyopathyMYBPC3Metabolism

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