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

JC Isbister, N Nowak, A Butters, L Yeates… - International Journal of …, 2021 - Elsevier
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 …

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

J Isbister, A Butters, J Ingles, RW Sy… - European Heart …, 2020 - academic.oup.com
Background Current genetic testing guidelines recommend against broad, multi-phenotype
genetic testing in survivors of sudden cardiac arrest (SCA) where no cause is identified on
clinical screening. Recent reports describe malignant arrhythmic events preceding
detectable structural changes in patients with pathogenic variants in cardiomyopathy genes,
who go on to demonstrate structural changes in follow up. Purpose We sought to investigate
the utility of a broad genetic testing approach, sequencing genes implicated in both …
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