Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary study
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023001%3A_____%2F23%3A00084427" target="_blank" >RIV/00023001:_____/23:00084427 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/23:10464198 RIV/00216208:11120/23:43925469 RIV/00216208:11140/23:10464198 RIV/00216208:11150/23:10464198 and 8 more
Result on the web
<a href="https://link.springer.com/article/10.1007/s00414-023-03007-z" target="_blank" >https://link.springer.com/article/10.1007/s00414-023-03007-z</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s00414-023-03007-z" target="_blank" >10.1007/s00414-023-03007-z</a>
Alternative languages
Result language
angličtina
Original language name
Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary study
Original language description
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. © 2023, The Author(s).
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30201 - Cardiac and Cardiovascular systems
Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2023
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
International journal of legal medicine
ISSN
0937-9827
e-ISSN
1437-1596
Volume of the periodical
137
Issue of the periodical within the volume
6
Country of publishing house
US - UNITED STATES
Number of pages
15
Pages from-to
1787-1801
UT code for WoS article
000986403800001
EID of the result in the Scopus database
2-s2.0-85159287101