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Arrhythmogenic cardiomyopathies (ACs): diagnosis, risk stratification and management

Protonotarios, A; Elliott, PM; (2019) Arrhythmogenic cardiomyopathies (ACs): diagnosis, risk stratification and management. Heart 10.1136/heartjnl-2017-311160. (In press). Green open access

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Abstract

Introduction Phenotype is defined as a set of observable characteristics of an individual resulting from the interaction of their genotype with the environment. It differs from ‘disease’ in that it does not reflect the mechanism by which it is produced. In 1982, the term arrhythmogenic right ventricular dysplasia was first used to describe a clinical phenotype characterised by ventricular arrhythmias of left bundle branch block (LBBB) configuration accompanied by right ventricular dilatation, wall motion abnormalities and fibrofatty replacement of the myocardium.1 Arrhythmogenic right ventricular cardiomyopathy (ARVC) became the preferred descriptor when subsequent histopathological analysis revealed that myocyte atrophy as a consequence of progressive cell death occurred after birth.2 3 Initial clinical diagnostic criteria for ARVC were based on descriptions of patients with advanced disease,4 but discovery of its genetic basis, and the phenotyping of large patient cohorts including relatives, revealed a broader disease spectrum in which right ventricle (RV) and left ventricle (LV) can be involved.5 The disease paradigm has expanded further with the recognition of new disease genes causing similar phenotypes. Hence, terms such as left-dominant arrhythmogenic cardiomyopathy, arrhythmic dilated cardiomyopathy or simply arrhythmogenic cardiomyopathy (AC) are increasingly used to describe the clinical phenotype observed in a family of disorders in which frequent ventricular arrhythmia and dysfunction of one or both ventricles are the defining features. In this article, we review this emerging concept with a focus on the genetics and clinical presentation of different forms of AC and a diagnostic approach based on recognition of particular clinical traits (figure 1).

Type: Article
Title: Arrhythmogenic cardiomyopathies (ACs): diagnosis, risk stratification and management
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1136/heartjnl-2017-311160
Publisher version: https://doi.org/10.1136/heartjnl-2017-311160
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Arrhythmogenic right ventricular dysplasia, idiopathic dilated cardiomyopathy
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science > Clinical Science
URI: https://discovery.ucl.ac.uk/id/eprint/10069119
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