Importance of genetic testing in unexplained cardiac arrest

Genetic testing is recommended in specific inherited heart diseases but its role remains unclear and it is not currently recommended in unexplained cardiac arrest (UCA). We sought to assess the yield and clinical utility of genetic testing in UCA using whole-exome sequencing (WES). Survivors of UCA...

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Vydáno v:European heart journal Ročník 43; číslo 32; s. 3071
Hlavní autoři: Grondin, Steffany, Davies, Brianna, Cadrin-Tourigny, Julia, Steinberg, Christian, Cheung, Christopher C, Jorda, Paloma, Healey, Jeffrey S, Green, Martin S, Sanatani, Shubhayan, Alqarawi, Wael, Angaran, Paul, Arbour, Laura, Antiperovitch, Pavel, Khan, Habib, Leather, Richard, Guerra, Peter G, Rivard, Lena, Simpson, Christopher S, Gardner, Martin, MacIntyre, Ciorsti, Seifer, Colette, Fournier, Anne, Joza, Jacqueline, Gollob, Michael H, Lettre, Guillaume, Talajic, Mario, Laksman, Zachary W, Roberts, Jason D, Krahn, Andrew D, Tadros, Rafik
Médium: Journal Article
Jazyk:angličtina
Vydáno: England 21.08.2022
Témata:
Genetic testing
Arrhythmia
Cardiomyopathy
Cardiovascular genetics
Cardiac arrest
Ventricular fibrillation
ISSN:1522-9645, 1522-9645
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Shrnutí:Genetic testing is recommended in specific inherited heart diseases but its role remains unclear and it is not currently recommended in unexplained cardiac arrest (UCA). We sought to assess the yield and clinical utility of genetic testing in UCA using whole-exome sequencing (WES). Survivors of UCA requiring external defibrillation were included from the Cardiac Arrest Survivor with Preserved Ejection fraction Registry. Whole-exome sequencing was performed, followed by assessment of rare variants in previously reported cardiovascular disease genes. A total of 228 UCA survivors (mean age at arrest 39 ± 13 years) were included. The majority were males (66%) and of European ancestry (81%). Following advanced clinical testing at baseline, the likely aetiology of cardiac arrest was determined in 21/228 (9%) cases. Whole-exome sequencing identified a pathogenic or likely pathogenic (P/LP) variant in 23/228 (10%) of UCA survivors overall, increasing the proportion of 'explained' cases from 9% only following phenotyping to 18% when combining phenotyping with WES. Notably, 13 (57%) of the 23 P/LP variants identified were located in genes associated with cardiomyopathy, in the absence of a diagnosis of cardiomyopathy at the time of arrest. Genetic testing identifies a disease-causing variant in 10% of apparent UCA survivors. The majority of disease-causing variants was located in cardiomyopathy-associated genes, highlighting the arrhythmogenic potential of such variants in the absence of an overt cardiomyopathy diagnosis. The present study supports the use of genetic testing including assessment of arrhythmia and cardiomyopathy genes in survivors of UCA.
Bibliografie:ObjectType-Article-1
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ISSN:1522-9645
1522-9645
DOI:10.1093/eurheartj/ehac145