Journal article
Arrhythmic Phenotypes Are a Defining Feature of Dilated Cardiomyopathy-Associated SCN5A Variants: A Systematic Review
S Peters, BA Thompson, M Perrin, P James, D Zentner, JM Kalman, JI Vandenberg, D Fatkin
Circulation Genomic and Precision Medicine | LIPPINCOTT WILLIAMS & WILKINS | Published : 2022
Abstract
Background: Variants in the SCN5A gene, that encodes the cardiac sodium channel, Nav1.5, are associated with a highly arrhythmogenic form of dilated cardiomyopathy (DCM). Our aim was to review the phenotypes, natural history, functional effects, and treatment outcomes of DCM-associated rare SCN5A variants. Methods: A systematic review of reported DCM-associated rare SCN5A variants was undertaken using PubMed and Embase. Results: Eighteen SCN5A rare variants in 29 families with DCM (173 affected individuals) were identified. Eleven variants had undergone experimental evaluation, with 7 of these resulting in increased sustained current flow during the action potential (eg, increased window cur..
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Funding Acknowledgements
Dr Peters is supported by a Commonwealth Research Training Program Scholarship and a Melbourne Health Research Fellowship grant. Dr Kalman is funded by a Practitioner Fellowship of the National Health and Medical Research Council of Australia (NHMRC). Drs Vandenberg and Fatkin receive support from the Victor Chang Cardiac Research Institute, NSW Health, NHMRC, and Australian Genomics.