title: Arrhythmogenic cardiomyopathy: from autopsy to genes and transgenic mice (SCVP Achievement Award Lecture, San Antonio, TX, February 27, 2011).
abstract: We present the history of arrhythmogenic cardiomyopathy since its discovery in the 1980s at autopsy of young subjects, who died suddenly during effort as a first manifestation of the disease and in whom the right ventricle was found as the source of lethal arrhythmias. Most of the contributions have come from the Padua as well as from the Paris and London schools. Investigations were then developed to arrive at the diagnosis, and these include electrocardiography, angiography, echocardiography, electroanatomic mapping, endomyocardial biopsy, and magnetic resonance imaging. Disqualification from sport activity and implantable cardioverter defibrillator proved to be life-saving. Genetic investigations have confirmed that arrhythmogenic cardiomyopathy is a hereditary Mendelian disease, either dominant or recessive, with mutations of genes encoding intercellular proteins (desmosome disease). The disease was recently reproduced in transgenic mice, with electrocardiographic and morphologic features overlapping the human disease. Cardiomyocyte cell death occurs with time as a genetically determined injury. The challenge now is to find ways to prevent onset and progression of the disease.
authors: Cardiovascular Pathology, Department of Medical-Diagnostic Sciences and Special Therapies, University of Padua Medical School, Padua, Italy. gaetano.thiene@unipd.it
authors: Gaetano
authors: G
authors: Thiene
mesh_terms: D000818:Animals; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D001363:Awards and Prizes; D002309:Cardiology; D004195:Disease Models, Animal; D015870:Gene Expression; D006801:Humans; D051379:Mice; D008822:Mice, Transgenic; D009154:Mutation; D032383:Myocytes, Cardiac / Q000473:pathology / Q000648:ultrastructure; D009336:Necrosis; D012955:Societies, Medical