Elsevier

Resuscitation

Volume 168, November 2021, Pages 176-185
Resuscitation

Experimental paper
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

https://doi.org/10.1016/j.resuscitation.2021.07.042Get rights and content
Under a Creative Commons license
open access

Abstract

Background

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.

Methods

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).

Results

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.

Conclusion

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.

Keywords

Sudden cardiac death
Emergency medical service
Genetics arrhythmogenic diseases
Resuscitation
Quality of DNA
Next generation sequencing

Cited by (0)

1

Equal authorship.

2

Current address: Institute for Anesthesiology and Intensive Care Medicine, Campus Lippe Hospital, University Clinic OWL, Bielefeld University, Germany.