The HCM I79N pathogenic variant in cardiac TNT induces thick filament malfunction and myofilament lattice rearrangement

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Missense variant Ile79Asn in human cardiac troponin T (HcTnT-I79N) has been associated with familial hypertrophic cardiomyopathy (HCM), arrhythmia and sudden cardiac death. Little is known about effects of this pathogenic variant on cardiac myofilament function and structure. To fill this gap, cardiac tissues were harvested from non-transgenic (NTg) control mice and transgenic mice bearing HcTnT-I79N. Left ventricular papillary muscle bundles were permeabilized and mounted for mechanical measurements.