Circulating Acylcarnitines Associated with Hypertrophic Cardiomyopathy Severity: an Exploratory Cross-Sectional Study in MYBPC3 Founder Variant Carriers

Mark Jansen*, A. F. Schmidt, J. J.M. Jans, I. Christiaans, S. N. van der Crabben, Y. M. Hoedemaekers, D. Dooijes, J. D.H. Jongbloed, L. G. Boven, R. H. Lekanne Deprez, A. A.M. Wilde, J. van der Velden, R. A. de Boer, J. P. van Tintelen, F. W. Asselbergs, A. F. Baas

*Corresponding author for this work

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Hypertrophic cardiomyopathy (HCM) is a relatively common genetic heart disease characterised by myocardial hypertrophy. HCM can cause outflow tract obstruction, sudden cardiac death and heart failure, but severity is highly variable. In this exploratory cross-sectional study, circulating acylcarnitines were assessed as potential biomarkers in 124 MYBPC3 founder variant carriers (59 with severe HCM, 26 with mild HCM and 39 phenotype-negative [G + P-]). Elastic net logistic regression identified eight acylcarnitines associated with HCM severity. C3, C4, C6-DC, C8:1, C16, C18 and C18:2 were significantly increased in severe HCM compared to G + P-, and C3, C6-DC, C8:1 and C18 in mild HCM compared to G + P-. In multivariable linear regression, C6-DC and C8:1 correlated to log-transformed maximum wall thickness (coefficient 5.01, p = 0.005 and coefficient 0.803, p = 0.007, respectively), and C6-DC to log-transformed ejection fraction (coefficient -2.50, p = 0.004). Acylcarnitines seem promising biomarkers for HCM severity, however prospective studies are required to determine their prognostic value. Graphical abstract: [Figure not available: see fulltext.].

Original languageEnglish
Pages (from-to)1267–1275
Number of pages9
JournalJournal of cardiovascular translational research
Early online date6-Jun-2023
Publication statusPublished - Dec-2023


  • Acylcarnitine
  • Biomarker
  • Hypertrophic Cardiomyopathy
  • Metabolism
  • MYBPC3

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