Abnormal balance of inward and outward ion currents in HCM ventricular cardiomyocytes determines a reduced lusitropic response to beta-adrenergic stimulation, due to insufficient APD and Ca2+ transient shortening. In HCM patients, this translates into exercise-induced QTc prolongation, TQ shortening and impaired diastolic reserve, contributing to reduced exercise tolerance. MYBPC3-related HCM showed increased long-term prevalence of systolic dysfunction compared to MHY7, in spite of similar outcome. This trend was subtended by an age-related decline in contractile performance in vitro in MYBC3 but not in MHY7 samples. Such observations suggest different pathophysiology of clinical progression in the two subsets and may prove relevant for understanding of genotype-phenotype correlations in HCM
Beltrami, M., Palazzuoli, A., Nuti, R., Olivotto, I. (2020). From gene mutations to biomechanical abnormalities and electrophysiological remodeling in hypertrophic cardiomyopathy: exploring the translational approach. [10.25434/beltrami-matteo_phd2020].
From gene mutations to biomechanical abnormalities and electrophysiological remodeling in hypertrophic cardiomyopathy: exploring the translational approach.
beltrami matteo
;palazzuoli alberto;nuti ranuccio;
2020-01-01
Abstract
Abnormal balance of inward and outward ion currents in HCM ventricular cardiomyocytes determines a reduced lusitropic response to beta-adrenergic stimulation, due to insufficient APD and Ca2+ transient shortening. In HCM patients, this translates into exercise-induced QTc prolongation, TQ shortening and impaired diastolic reserve, contributing to reduced exercise tolerance. MYBPC3-related HCM showed increased long-term prevalence of systolic dysfunction compared to MHY7, in spite of similar outcome. This trend was subtended by an age-related decline in contractile performance in vitro in MYBC3 but not in MHY7 samples. Such observations suggest different pathophysiology of clinical progression in the two subsets and may prove relevant for understanding of genotype-phenotype correlations in HCM
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https://hdl.handle.net/11365/1120814