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Metabolic characterization of hypertrophic cardiomyopathy in human heart

Wenmin Wang1,2, Jizheng Wang3, Ke Yao1,2

  • 1School of Pharmaceutical Sciences, Tsinghua-Peking Center for Life Sciences, Beijing Frontier Research Center for Biological Structure, Tsinghua University, Beijing, China.

Nature Cardiovascular Research
|August 28, 2024
PubMed

Insights

Metabolic changes in hypertrophic cardiomyopathy (HCM) were identified, revealing potential diagnostic markers and therapeutic targets. This research sheds light on the role of metabolism in HCM progression and patient outcomes.

Area of Science:

  • Cardiovascular Medicine
  • Metabolomics
  • Genetics

Background:

  • Hypertrophic cardiomyopathy (HCM) is a prevalent inherited cardiovascular disease with varied clinical manifestations.
  • While metabolic dysfunction is implicated in many heart conditions, its specific role in HCM remains unclear.

Purpose of the Study:

  • To investigate metabolic and lipidomic alterations in individuals with and without HCM.
  • To identify potential diagnostic markers and prognostic predictors for HCM.
  • To stratify HCM patients into distinct subgroups based on their metabolic profiles.

Main Methods:

  • Analysis of metabolome and lipidome in heart and plasma samples from HCM patients and controls.
  • Correlation analyses to link metabolic alterations with cardiac function and prognosis.
  • Machine learning application for identifying metabolite panels as diagnostic or prognostic tools.
  • Integration of metabolomics and proteomics data to identify altered metabolic pathways.

Main Results:

  • Significant associations were found between metabolic alterations and cardiac function/prognosis in HCM patients.
  • Metabolite panels were identified as potential diagnostic markers and survival predictors for HCM.
  • HCM patient stratification into three subgroups with distinct clinical characteristics based on metabolome and lipidome.
  • Upregulation of the pentose phosphate pathway and oxidative stress pathways identified in HCM.

Conclusions:

  • Metabolic profiling offers insights into HCM pathophysiology and patient stratification.
  • Targeting the pentose phosphate pathway and oxidative stress presents a potential therapeutic strategy for HCM.
  • Metabolomics can serve as a valuable tool for diagnosing and predicting outcomes in hypertrophic cardiomyopathy.

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