Metabolomic biomarkers and metabolic remodelling in genetically characterised hypertrophic cardiomyopathy: a systematic review

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiomyopathy and a major cause of heart failure, malignant arrhythmias and sudden cardiac death. Although pathogenic variants in sarcomeric genes such as MYBPC3, MYH7, TNNT2, and TNNI3 are well-recognised contributors to the disease, the mechanisms linking these mutations to the heterogeneous phenotypes remain poorly understood. Increasing evidence suggests that HCM is fundamentally associated with disturbances in myocardial energetics and metabolic remodelling.