• Jens Tiesmeier, Anna Gaertner, Sören Homm, Thomas Jakob, Caroline Stanasiuk, Bernd Bachmann-Mennenga, Dietrich Henzler, Steffen Grautoff, Gunter Veit, Erika Hori, Udo Kellner, Jan F Gummert, Marc P Hitz, Anna Kostareva, Karin Klingel, Lech Paluszkiewicz, Kai Thorsten Laser, Heidi Pfeiffer, Henrik Fox, and Hendrik Milting.
• Institute for Anesthesiology, Intensive Care- and Emergency Medicine, MKK-Hospital Luebbecke, Campus OWL, Ruhr-University Bochum, Germany; Erich and Hanna Klessmann-Institute for Cardiovascular Research and Development & Clinic for Thoracic and Cardiovascular Surgery, Heart- and Diabetescenter NRW, D-32545 Bad Oeynhausen, University Hospital of the Ruhr-University Bochum, Germany.
• Resuscitation. 2021 Nov 1; 168: 176-185.

BackgroundGenetics of sudden cardiac deaths (SCD) remains frequently undetected. Genetic analysis is recommended in undefined selected cases in the 2021 ERC-guideline. The emergency medical service and physicians (EMS) may play a pivotal role for unraveling SCD by saving biomaterial for later molecular autopsy. Since for high-throughput DNA-sequencing (NGS) high quality genomic DNA is needed. We investigated in a prospective proof-of-concept study the role of the EMS for the identification of genetic forms of SCDs in the young.MethodsWe included patients aged 1-50 years with need for cardiopulmonary resuscitation attempts (CPR). Cases with non-natural deaths were excluded. In two German counties with 562,904 residents 39,506 services were analysed. Paired end panel-sequencing was performed, and variants were classified according to guidelines of the American College of Medical Genetics (ACMG).Results769 CPR-attempts were recorded (1.95% of all EMS-services; CPR-incidence 68/100,000). In 103 cases CPR were performed in patients < 50y. 58% died on scene, 26% were discharged from hospital. 24 subjects were included for genotyping. Of these 33% died on scene, 37.5% were discharged from hospital. 25% of the genotyped patients were carriers of (likely) pathogenic (ACMG-4/-5) variants. 67% carried variants with unknown significance (ACMG-3). 2 of them had familial history for arrhythmogenic cardiomyopathy or had to be re-classified as ACMG-4 carriers due to whole exome sequencing.ConclusionThe EMS contributes especially in fatal OHCA-cases to increase the yield of identified genetic conditions by collecting a blood sample on scene. Thus, the EMS can contribute significantly to primary and secondary prophylaxis in affected families.Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

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