The Arrhythmogenic Impact of the Familial Hypertrophic Cardiomyopathy-related Cardiac Troponin T mutation I79N

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Cardiac troponin (cTn) is a heterotrimeric complex that plays an essential role in cardiac contractility. Each complex is composed of a highly conserved Ca2+ binding subunit (cTnC), an inhibitory subunit (cTnI), and a tropomyosin binding subunit (cTnT). Familial hypertrophic cardiomyopathy (FHC) is the most common inherited cardiomyopathy, and 7% of FHC is associated with mutations found in the cTnT gene. Unlike the general anatomical abnormalities found in FHC patients, hearts from patients harbouring cTnT mutations show less ventricular hypertrophy but significant arrhythmogenesis. This study focuses on the I79N cTnT mutation that is morphologically asymptomatic but associated with a high incidence of sudden cardiac death.