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Distinct Metabolomic Signatures in Preclinical and Obstructive Hypertrophic Cardiomyopathy

Maike Schuldt1, Beau van Driel1, Sila Algül1

  • 1Department of Physiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081 HZ Amsterdam, The Netherlands.

Cells
|November 27, 2021
PubMed

Insights

Serum metabolic signatures reveal unique patterns in preclinical and symptomatic hypertrophic cardiomyopathy (HCM) patients. These findings may improve risk stratification and precision therapeutics for this inherited heart disease.

Area of Science:

  • Cardiology
  • Metabolomics
  • Genetics

Background:

  • Hypertrophic Cardiomyopathy (HCM) is a common inherited heart disease.
  • Poor risk prediction in HCM is due to incomplete penetrance and unclear genotype-phenotype correlations.
  • Altered myocardial energetics are observed in preclinical HCM gene variant carriers.

Purpose of the Study:

  • To investigate if disturbed myocardial energetics in HCM are reflected in the serum metabolome.
  • To identify potential serum biomarkers for HCM risk stratification.
  • To compare metabolic profiles of asymptomatic carriers, obstructive HCM patients, and healthy controls.

Main Methods:

  • Untargeted metabolomics using high-resolution mass spectrometry on serum samples.
  • Analysis of serum from asymptomatic gene variant carriers (n=31), obstructive HCM patients (n=14), and healthy controls (n=9).
  • Multivariate modeling with gradient-boosting classifiers to identify discriminating metabolite panels.

Main Results:

  • A panel of 30 serum metabolites effectively discriminated between the three groups.
  • Metabolite panels showed performance comparable to advanced cardiac imaging in group differentiation.
  • Seven specific metabolites were predictive across different comparisons, potentially indicating disease stage.

Conclusions:

  • Unique serum metabolic signatures exist in preclinical and obstructive HCM patients.
  • These metabolic signatures may serve as potential biomarkers for HCM risk stratification.
  • Findings support the development of precision therapeutics for hypertrophic cardiomyopathy.

Keywords:
biomarkerdisease signaturedisease stagehypertrophic cardiomyopathymetabolomicsserum

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