Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Type 1: A Light on Molecular Mechanisms. (11th December 2013)

• Record Type: Journal Article
• Authors: Vanderschuren, Koen L. A.; Sieverink, Tom; Wilders, Ronald
• Other Names: Werner Haim Academic Editor.
• Is Part Of: Genetics research international. Volume 2013(2013)
• Publication Date: 2013-12-11
• Subjects: Genetics -- Research -- Periodicals; 576.5072
• DOI: 10.1155/2013/460805
• Languages: English
• ISSNs: 2090-3154

Abstract

Abstract : Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited cardiomyopathy associated with cardiac arrhythmias originating in the right ventricle, heart failure, and sudden cardiac death. Development of ARVD/C type 1 has been attributed to differential expression of transforming growth factor beta 3 (TGF β 3). Several mechanisms underlying the molecular basis of ARVD/C type 1 have been proposed. Evaluating previously described mechanisms might elucidate how TGF β 3 contributes to disease progression in ARVD/C type 1. Here we review how TGF β 3 can induce fibrogenesis through Smad and/or β -catenin signaling. Moreover, the role of apoptosis is addressed. Finally the extent to which the immune system has been demonstrated to be a modulating and amplifying agent in the onset and progression of ARVD/C in general is discussed.