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.
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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 > School of Life and Medical 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-pp.ucl.ac.uk/id/eprint/10094852 |
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