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The role of genetics in cardiovascular disease: arrhythmogenic cardiomyopathy

James, CA; Syrris, P; van Tintelen, JP; Calkins, H; (2020) The role of genetics in cardiovascular disease: arrhythmogenic cardiomyopathy. European Heart Journal , 41 (14) pp. 1393-1400. 10.1093/eurheartj/ehaa141. Green open access

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Abstract

Arrhythmogenic cardiomyopathy (ACM) is a heritable cardiomyopathy characterized by frequent ventricular arrhythmias and progressive ventricular dysfunction. Risk of sudden cardiac death is elevated in ACM patients and can be the presenting symptom particularly in younger individuals and athletes. This review describes current understanding of the genetic architecture of ACM and molecular mechanisms of ACM pathogenesis. We consider an emerging threshold model for ACM inheritance in which multiple factors including pathogenic variants in known ACM genes, genetic modifiers, and environmental exposures, particularly exercise, are required to reach a threshold for disease expression. We also review best practices for integrating genetics—including recent discoveries—in caring for ACM families and emphasize the utility of genotype for both management of affected individuals and predictive testing in family members.

Type: Article
Title: The role of genetics in cardiovascular disease: arrhythmogenic cardiomyopathy
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1093/eurheartj/ehaa141
Publisher version: https://doi.org/10.1093/eurheartj/ehaa141
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 cardiomyopathy, Genetic counselling, Cardiovascular genetics, Arrhythmogenic right ventricular 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/10094852
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