“Concealed cardiomyopathy” as a cause of previously unexplained sudden cardiac arrest

“Concealed cardiomyopathy” as a cause of previously unexplained sudden cardiac arrest.

Full text not available from this repository.
Item Type: Article
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

Actions (login required)

View Item View Item