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The emergency medical service has a crucial role to unravel the genetics of sudden cardiac arrest in young, out of hospital resuscitated patients: Interim data from the MAP-IT study.

Authors :
Tiesmeier, Jens
Gaertner, Anna
Homm, Sören
Jakob, Thomas
Stanasiuk, Caroline
Bachmann-Mennenga, Bernd
Henzler, Dietrich
Grautoff, Steffen
Veit, Gunter
Hori, Erika
Kellner, Udo
Gummert, Jan F.
Hitz, Marc P.
Kostareva, Anna
Klingel, Karin
Paluszkiewicz, Lech
Laser, Kai Thorsten
Pfeiffer, Heidi
Fox, Henrik
Milting, Hendrik
Source :
Resuscitation. Nov2021, Vol. 168, p176-185. 10p.
Publication Year :
2021

Abstract

<bold>Background: </bold>Genetics 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.<bold>Methods: </bold>We 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).<bold>Results: </bold>769 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.<bold>Conclusion: </bold>The 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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
03009572
Volume :
168
Database :
Academic Search Index
Journal :
Resuscitation
Publication Type :
Academic Journal
Accession number :
153174752
Full Text :
https://doi.org/10.1016/j.resuscitation.2021.07.042