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Background

Hypertrophic cardiomyopathy (HCM) is the most common (inherited) cardiomyopathy and is caused by mutations in sarcomere protein genes in~ 50% of patients. Mitochondrial dysfunction is thought to be a key driver of pathological remodeling in HCM, however functional reports are scarce.

Methods

We performed respirometry measurements in septal tissue from patients with HCM (n= 56) to evaluate oxidative phosphorylation (OXPHOS) pathways (fig1A) and fatty acid oxidation (FAO; fig1B). Transmission electron microscopy was used to identify ultrastructural correlates of mitochondrial function. We also present two approaches that improved mitochondrial respiratory function ex vivo.