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Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary study
P. Votýpka, A. Krebsová, P. Norambuena-Poustková, P. Peldová, Š. Pohlová Kučerová, M. Kulvajtová, P. Dohnalová, M. Bílek, V. Stufka, K. Rücklová, I. Grossová, H. Wünschová, T. Tavačová, J. Hašková, M. Segeťová, J. Štoček, A. Gřegořová, V....
Language English Country Germany
Document type Journal Article
Grant support
NV18-02-00237
Ministry of Health, Czech Republic
NV15-27682A
Ministry of Health, Czech Republic
CZ.2.16/3.1.00/24022
European Regional Development Fund
NF-CZ11-PDP-3-003-2014
Norway Grants
NLK
ProQuest Central
from 1997-02-01 to 1 year ago
Medline Complete (EBSCOhost)
from 2009-07-01 to 1 year ago
Health & Medicine (ProQuest)
from 1997-02-01 to 1 year ago
- MeSH
- Adult MeSH
- Genetic Testing * MeSH
- Middle Aged MeSH
- Humans MeSH
- Death, Sudden, Cardiac * etiology MeSH
- Pilot Projects MeSH
- Autopsy * MeSH
- Feasibility Studies MeSH
- High-Throughput Nucleotide Sequencing MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Geographicals
- Czech Republic MeSH
Sudden cardiac death (SCD) might have an inherited cardiac condition background. Genetic testing supports post-mortem diagnosis and screening of relatives at risk. Our aim is to determine the feasibility of a Czech national collaboration group and to establish the clinical importance of molecular autopsy and family screening. From 2016 to 2021, we have evaluated 100 unrelated SCD cases (71.0% males, age: 33.3 (12.8) years). Genetic testing was performed by next-generation sequencing utilizing a panel of 100 genes related to inherited cardiac/aortic conditions and/or whole exome sequencing. According to autopsy, cases were divided into cardiomyopathies, sudden arrhythmic death syndrome, sudden unexplained death syndrome, and sudden aortic death. We identified pathogenic/likely pathogenic variants following ACMG/AMP recommendations in 22/100 (22.0%) of cases. Since poor DNA quality, we have performed indirect DNA testing in affected relatives or in healthy parents reaching a diagnostic genetic yield of 11/24 (45.8%) and 1/10 (10.0%), respectively. Cardiological and genetic screening disclose 83/301 (27.6%) relatives at risk of SCD. Genetic testing in affected relatives as starting material leads to a high diagnostic yield offering a valuable alternative when suitable material is not available. This is the first multidisciplinary/multicenter molecular autopsy study in the Czech Republic which supports the establishment of this type of diagnostic tests. A central coordinator and proper communication among centers are crucial for the success of a collaboration at a national level.
Department of Biology and Medical Genetics University Hospital Ostrava Ostrava Czech Republic
Department of Forensic Medicine and Toxicology Liberec Regional Hospital Liberec Czech Republic
Department of Medical Genetics University Hospital Pilsen Pilsen Czech Republic
Forensic Department Hospital České Budějovice České Budějovice Czech Republic
Forensic Department of Military University Hospital Prague Czech Republic
Institute for Forensic Medicine 3rd Faculty of Medicine Charles University Prague Czech Republic
Paediatric Department 3rd Faculty of Medicine Charles University Prague Czech Republic
References provided by Crossref.org
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