title: Arrhythmogenic cardiomyopathy and Brugada syndrome: diseases of the connexome.
abstract: This review summarizes data in support of the notion that the cardiac intercalated disc is the host of a protein interacting network, called "the connexome", where molecules classically defined as belonging to one particular structure (e.g., desmosomes, gap junctions, sodium channel complex) actually interact with others, and together, control excitability, electrical coupling and intercellular adhesion in the heart. The concept of the connexome is then translated into the understanding of the mechanisms leading to two inherited arrhythmia diseases: arrhythmogenic cardiomyopathy, and Brugada syndrome. The cross-over points in these two diseases are addressed to then suggest that, though separate identifiable clinical entities, they represent "bookends" of a spectrum of manifestations that vary depending on the effect that a particular mutation has on the connexome as a whole.
authors.affiliation: Leon H Charney Division of Cardiology, New York University School of Medicine, 522 First avenue, Smilow 805, New York, NY 10016, United States.
authors.forename: Esperanza
authors.initials: E
authors.lastname: Agullo-Pascual
authors.affiliation: Leon H Charney Division of Cardiology, New York University School of Medicine, 522 First avenue, Smilow 805, New York, NY 10016, United States.
authors.forename: Marina
authors.initials: M
authors.lastname: Cerrone
authors.affiliation: Leon H Charney Division of Cardiology, New York University School of Medicine, 522 First avenue, Smilow 805, New York, NY 10016, United States. Electronic address: Mario.delmar@nyumc.org.
authors.forename: Mario
authors.initials: M
authors.lastname: Delmar
mesh_terms: D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000235:genetics* / Q000378:metabolism; D053840:Brugada Syndrome / Q000235:genetics* / Q000378:metabolism; D017630:Connexins / Q000235:genetics* / Q000378:metabolism; D003896:Desmosomes / Q000235:genetics / Q000378:metabolism* / Q000648:ultrastructure; D017629:Gap Junctions / Q000235:genetics / Q000378:metabolism* / Q000648:ultrastructure; D006801:Humans; D051191:Plakophilins / Q000235:genetics / Q000378:metabolism; D061566:Voltage-Gated Sodium Channels / Q000235:genetics / Q000378:metabolism
chemical_list: D017630:Connexins; D051191:Plakophilins; D061566:Voltage-Gated Sodium Channels
keywords: Arrhythmogenic right ventricular cardiomyopathy; Brugada syndrome; Connexin43; Desmosome; Plakophilin-2; Sodium channel