Metabolic alterations in human hypertrophic cardiomyopathy

Abstract

Hypertrophic cardiomyopathy (HCM) is a highly common cardiomyopathy and is characterized by left ventricular hypertrophy and diastolic dysfunction. In half of the cases, HCM is associated with mutations in genes encoding sarcomere proteins, while the remaining cases occur without identifiable genetic mutations. Disrupted bioenergetic homeostasis has increasingly been recognized as a key feature of HCM pathophysiology. In this review, we summarize and critically evaluate studies addressing cardiometabolic alterations in HCM, with a particular focus on human-based research. These include non-invasive imaging studies, blood-based analyses, and molecular and functional assays of myocardial tissue. We also explore the therapeutic potential of targeting metabolic pathways in HCM and highlight promising directions for future studies.

Keywords

Hypertrophic cardiomyopathy / cardiac metabolism / mitochondrial function / metabolic therapy

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