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

Publication

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

Journal Paper/Review - Mar 18, 2019

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

Citation

Asatryan B, Saguner A, Müller S, Duru F, Auricchio A, Ammann P, Sticherling C, Burri H, Reichlin T, Wilhelm M, Conte G, Haeberlin A, Schaller A, Seiler J, Servatius H, Noti F, Baldinger S, Tanner H, Roten L, Dillier R, Lam A, Medeiros-Domingo A. Usefulness of Genetic Testing in Sudden Cardiac Arrest Survivors With or Without Previous Clinical Evidence of Heart Disease. Am J Cardiol 2019; 123:2031-2038.

Type

Journal Paper/Review (English)

Journal

Am J Cardiol 2019; 123

Publication Date

Mar 18, 2019

Issn Electronic

1879-1913

Pages

2031-2038

Brief description/objective

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.