Contraction and electrophysiological abnormalities in myofilament mutation-positive and mutation-negative human HCM myocardium

Myofilament mutation-positive and mutation-negative hypertrophic cardiomyopathy (HCM) patients show different prognosis and arrhythmic burden that are likely related to the different pathogenesis. For instance, post-translational activation of CaMKII pathway is a specific biomarker of myofilament mutation-positive HCM while depressed sarcoplasmic reticulum calcium uptake is present in both groups. However, the functional consequences of a mutation-driven pathogenesis is still not completely understood.