Hypertrophic cardiomyopathy: metabolic abnormalities, but no gene-specific signature

Linking genetic variants to heart function

Hypertrophic cardiomyopathy is an inherited heart disease that can lead to heart failure, serious heart rhythm disorders and sudden death. Variants in genes such as MYBPC3 or MYH7 contribute to the disease, but their relationship with its diverse manifestations remains poorly understood.

The review, dated October 3, 2026 in the dossier, examines metabolomic data from genetically characterized populations. This approach measures molecules involved in metabolism to identify disrupted pathways and potential disease markers.

The authors included 14 studies following a search of PubMed, Scopus and Web of Science. Most analyzed plasma or heart tissue using liquid chromatography coupled with mass spectrometry. The abstract does not specify group sizes, comparators or follow-up durations.

Recurring disturbances in energy use

The studies report changes affecting fatty acid oxidation, branched-chain amino acid metabolism, ketone body use and Krebs cycle intermediates, among other processes. Circulating acylcarnitines, amino acids and eicosanoid metabolites are associated with the presence or severity of the disease.

Heart tissue analyses also describe impaired mitochondrial energy metabolism, a reduction in high-energy phosphate metabolites and reliance on alternative energy substrates. These observations characterize biological disturbances: they do not demonstrate that a nutritional intervention corrects them or improves the disease.

Candidate biomarkers, not a validated test

The central finding is the absence of a distinct metabolic signature by genotype across the included studies. The observed profile appears to reflect the severity of disease manifestations more than the causal variant. This does not prove that no genetic signature exists, but rather that this review does not identify one.

Metabolomics could help better characterize the disease. Before clinical use, however, the authors call for longitudinal studies and validation in independent populations. The abstract provides no diagnostic performance data that would allow the usefulness of a test for an individual to be assessed.

What we can take away

This review documents metabolic remodeling in hypertrophic cardiomyopathy without establishing a signature specific to each genotype. It supports neither routine metabolomic testing nor a supplementation strategy.