“Concealed cardiomyopathy” as a cause of previously unexplained sudden cardiac arrest.
Full text not available from this repository.Item Type: | Article |
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Status: | Published |
Official URL: | https://doi.org/10.1016/j.ijcard.2020.09.031 |
Journal or Publication Title: | International Journal of Cardiology |
Volume: | 324 |
Page Range: | pp. 96-101 |
Date: | 2021 |
Divisions: | Molecular Cardiology Cardio Genomics |
Depositing User: | General Admin |
Identification Number: | 10.1016/j.ijcard.2020.09.031 |
ISSN: | 01675273 |
Date Deposited: | 10 Jun 2021 05:50 |
Abstract: | Background: Genetic heart disease is a common cause of sudden cardiac arrest (SCA) in the young and those without an ischaemic precipitant. Identifying a cause of SCA in these patients allows for targeted care and family screening. Current guidelines recommend limited, phenotype-guided genetic testing in SCA survivors where a specific genetic condition is suspected and genetic testing is not recommended in clinically-idiopathic SCA survivors. Objective: To investigate the diagnostic utility of broad, multi-phenotype genetic testing in clinically-idiopathic SCA survivors. Methods: Clinically-idiopathic SCA survivors underwent analysis of genes known to be associated with either cardiomyopathy or primary arrhythmia syndromes, following referral to a specialised genetic heart disease clinic in Sydney, Australia between 1997 and 2019. Comprehensive review of clinical records, investigations and re-appraisal of genetic data according to current variant classification criteria was performed. Results: In total, 22% (n = 8/36) of clinically-idiopathic SCA survivors (mean age 36.9 ± 16.9 years, 61% male) had a disease-causing variant identified on broad genetic testing. Of these, 7 (88%) variants resided in cardiomyopathy-associated genes (ACTN2, DES, DSP, MYBPC3, MYH7, PKP2) despite structurally normal hearts or sub-diagnostic structural changes at the time of arrest, so-called "concealed cardiomyopathy". Only one SCA survivor had a variant identified in a channelopathy associated gene (SCN5A). Conclusion: Extended molecular analysis with multi-phenotype genetic testing can identify a "concealed cardiomyopathy", and increase the diagnosis rate for clinically-idiopathic SCA survivors. Keywords: Clinically-idiopathic; Concealed cardiomyopathy; Genetic testing; Multi-phenotype genetic testing; Sudden cardiac arrest. Copyright © 2020 Elsevier B.V. All rights reserved. |
Creators: | Creators Email Isbister, Julia C. UNSPECIFIED Nowak, Natalie UNSPECIFIED Butters, Alexandra UNSPECIFIED Yeates, Laura UNSPECIFIED Gray, Belinda UNSPECIFIED Sy, Raymond W. UNSPECIFIED Ingles, Jodie UNSPECIFIED Bagnall, Richard D. UNSPECIFIED Semsarian, Christopher UNSPECIFIED |
Last Modified: | 10 Jun 2021 05:50 |
URI: | https://eprints.centenary.org.au/id/eprint/1030 |
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