The Cellular and Molecular Mechanism of Hypertrophic Cardiomyopathy

Dear Colleagues,

This Special Issue of Cells will focus on "The Cellular and Molecular Mechanism of Hypertrophic Cardiomyopathy". Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiomyopathy, characterized by cardiac hypertrophy, heart failure and an increased risk of sudden cardiac death and stroke.

In the last few decades, the genetic basis of HCM has been largely unveiled, leading to the identification of thousands of genetic variants mainly affecting genes encoding sarcomeric proteins. More recently, genome-wide association studies demonstrated that the same genetic pathways may lead to distinct disorders (hypertrophic and dilated cardiomyopathy) through opposing genetic effects, and provided evidence that a polygenic score based on common HCM susceptibility variants may explain interindividual differences in HCM disease severity among carriers of rare disease-causing variants. On the other hand, most of the molecular mechanisms leading from the genetic defect to the clinical phenotype remain at least in part unclear.

Deciphering the cellular and molecular pathways causing the myocardial structural abnormalities observed in myocardial tissue and determining the arrhythmogenic substrate of HCM have important clinical and therapeutic implications, as demonstrated by the recent development of the first-in-class myosin modulator, mavacamten, tested in phase 3 clinical trials.

Indeed, while some structural features of HCM such as disarray and interstitial and replacement fibrosis clearly represent substrates for malignant arrhythmias, other factors mainly related to the electrophysiological properties of myocardial cells seem to be involved.

Clinical studies with new imaging techniques, as well as animal models and cellular studies, are further contributing to the identification of prognostic markers and new therapeutic targets.

The aim of this Special Issue is to provide readers with a comprehensive overview on state-of-the-art knowledge at the molecular, cellular and clinical level of the mechanisms involved in the development of HCM, its pathophysiology and mechanisms of clinical progression.

We are therefore looking forward to receiving your articles on this topic.

Dr. Maurizio Pieroni
Prof. Dr. Iacopo Olivotto
Guest Editors

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• hypertrophic cardiomyopathy
• cellular mechanisms
• arrhythmogenesis
• sarcomere function
• genetics
• polygenic scores