Metabolomic biomarkers and metabolic remodelling in genetically characterised hypertrophic cardiomyopathy: a systematic review.
Ammar Hariz Ahmad Razmy, Normala Abd Latip, Sharaniza Ab-Rahim et al.
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In 30 seconds
This systematic review examined metabolomic evidence in 1511 participants with genetically characterised hypertrophic cardiomyopathy (HCM). It found that metabolic alterations were linked to disease severity rather than specific genetic variants. Key pathways affected included fatty acid oxidation and amino acid metabolism, highlighting the potential of metabolomics in HCM management.
Key findings
- Recurrent metabolic alterations were observed in fatty acid oxidation and branched-chain amino acid metabolism.
- Circulating acyl carnitines and amino acids were frequently reported biomarkers associated with disease presence or severity.
- No distinct genotype-specific metabolic signature was identified; metabolic patterns reflected phenotypic severity.
Why it matters
Understanding metabolic remodelling in HCM can enhance disease characterisation and biomarker discovery, potentially guiding precision medicine approaches in managing this condition.