title: Arrhythmogenic Cardiomyopathy - New Insights into Disease Mechanisms and Drug Discovery.
abstract: Arrhythmogenic cardiomyopathy (ACM) is a primary myocardial disorder characterized by the early appearance of ventricular arrhythmias often out of proportion to the degree of ventricular remodeling and dysfunction. ACM typically presents in adolescence or early adulthood. It accounts for 10% of sudden cardiac deaths in individuals under the age of 18 years. Although there has been significant progress in recognizing the genetic determinants of ACM, how specific gene mutations cause the disease remains poorly understood. Here, we review insights gained from studying the human disease as well asin vivoandin vitroexperimental models. These observations have advanced our understanding of the molecular mechanisms underlying the pathogenesis of ACM and may lead to development of new mechanism-based therapies.
authors.affiliation: Department of Pathology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA.
authors.forename: Angeliki
authors.initials: A
authors.lastname: Asimaki
authors.affiliation: Department of Pathology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA.
authors.forename: André G
authors.initials: AG
authors.lastname: Kléber
authors.affiliation: Department of Medicine, Cardiovascular Division, Brigham and Women's Hospital and Harvard Medical School, Boston, MA.
authors.forename: Calum A
authors.initials: CA
authors.lastname: MacRae
authors.affiliation: Department of Pathology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA.
authors.forename: Jeffrey E
authors.initials: JE
authors.lastname: Saffitz
keywords: Arrhythmogenic cardiomyopathy; SB216763; plakoglobin; sudden cardiac death