Usefulness of Genetic Testing in Sudden Cardiac Arrest Survivors With or Without Previous Clinical Evidence of Heart Disease

Babken Asatryan, André Schaller, Jens Seiler, Helge Servatius, Fabian Noti, Samuel H Baldinger, Hildegard Tanner, Laurent Roten, Roger Dillier, Anna Lam, Andreas Haeberlin, Giulio Conte, Ardan M Saguner, Stephan Andreas Müller, Firat Duru, Angelo Auricchio, Peter Ammann, Christian Sticherling, Haran Burri, Tobias ReichlinMatthias Wilhelm, Argelia Medeiros-Domingo

Research output: Contribution to journalArticlepeer-review

20 Citations (Scopus)

Abstract

Genetic testing in survivors of sudden cardiac arrest (SCA) with a suspicious cardiac phenotype is considered clinically useful, whereas its value in the absence of phenotype is disputed. We aimed to evaluate the clinical utility of genetic testing in survivors of SCA with or without cardiac phenotype. Sixty unrelated SCA survivors (median age: 34 [interquartile range 20 to 43] years, 82% male) without coronary artery disease were included: 24 (40%) with detectable cardiac phenotype (Ph(+)SCA) after the SCA event and 36 (60%) with no clear cardiac phenotype (Ph(-)SCA). The targeted exome sequencing was performed using the TruSight-One Sequencing Panel (Illumina). Variants in 185 clinically relevant cardiac genes with minor allele frequency <1% were analyzed. A total of 32 pathogenic or likely pathogenic variants were found in 27 (45%) patients: 17 (71%) in the Ph(+)SCA group and 10 (28%) in the Ph(-)SCA group. Sixteen (67%) Ph(+)SCA patients hosted mutations congruent with the suspected phenotype, in which 12 (50%) were cardiomyopathies and 4 (17%) channelopathies. In Ph(-)SCA cases, 6 (17%) carried a mutation in cardiac ion channel genes that could explain the event. The additional 4 (11%) mutations in this group, could not explain the phenotype and require additional studies. In conclusion, cardiac genetic testing was positive in nearly 2/3 patients of the Ph(+)SCA group and in 1/6 of the Ph(-)SCA group. The test was useful in both groups to identify or confirm an inherited heart disease, with an important impact on the patient care and first-degree relatives at risk.

Original languageEnglish
Pages (from-to)2031-2038
Number of pages8
JournalThe American Journal of Cardiology
Volume123
Issue number12
DOIs
Publication statusPublished - 15 Jun 2019

Bibliographical note

Copyright © 2019 Elsevier Inc. All rights reserved.

Keywords

  • Adult
  • Cohort Studies
  • Death, Sudden, Cardiac/etiology
  • Female
  • Genetic Predisposition to Disease/genetics
  • Genetic Testing
  • Heart Diseases/diagnosis
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Phenotype
  • Switzerland
  • Young Adult

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