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

Asatryan, Babken; Schaller, André; Seiler, Jens; Servatius, Helge Simon; Noti, Fabian; Baldinger, Samuel H.; Tanner, Hildegard; Roten, Laurent; Dillier, Roger; Lam, Anna; Haeberlin, Andreas; Conte, Giulio; Saguner, Ardan M.; Müller, Stephan Andreas; Duru, Firat; Auricchio, Angelo; Ammann, Peter; Sticherling, Christian; Burri, Haran; Reichlin, Tobias; ... (2019). Usefulness of Genetic Testing in Sudden Cardiac Arrest Survivors With or Without Previous Clinical Evidence of Heart Disease. The American journal of cardiology, 123(12), pp. 2031-2038. Elsevier 10.1016/j.amjcard.2019.02.061

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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.

Item Type:

Journal Article (Original Article)


04 Faculty of Medicine > Department of Cardiovascular Disorders (DHGE) > Clinic of Cardiology
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR)

Graduate School:

Graduate School for Health Sciences (GHS)

UniBE Contributor:

Asatryan, Babken, Schaller, André, Seiler, Jens, Servatius, Helge Simon (A), Noti, Fabian, Baldinger, Samuel Hannes, Tanner, Hildegard, Roten, Laurent, Lam, Anna, Häberlin, Andreas David Heinrich, Reichlin, Tobias Roman, Wilhelm, Matthias, Medeiros Domingo, Argelia


600 Technology > 610 Medicine & health








Anette van Dorland

Date Deposited:

19 Aug 2019 12:07

Last Modified:

29 Mar 2023 23:36

Publisher DOI:


PubMed ID:





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