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Votýpka, Pavel; Krebsová, Alice; Norambuena-Poustková, Patricia; Peldová, Petra; Pohlová Kučerová, Štěpánka; Kulvajtová, Markéta; Dohnalová, Petra; Bílek, Matěj; Stufka, Veronika; Rücklová, Kristina; Grossová, Iva; Wünschová, Hanka; Tavačová, Terezia; Hašková, Jana; Segeťová, Markéta; Štoček, Jakub; Gřegořová, Andrea; Zoubková, Veronika; Petřková, Jana; Dobiáš, Martin; Makuša, Michal; Blanková, Alžběta; Vajtr, David; Řehulka, Hynek; [...]

Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary study

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  • Media type: E-Article
  • Title: Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary study
  • Contributor: Votýpka, Pavel; Krebsová, Alice; Norambuena-Poustková, Patricia; Peldová, Petra; Pohlová Kučerová, Štěpánka; Kulvajtová, Markéta; Dohnalová, Petra; Bílek, Matěj; Stufka, Veronika; Rücklová, Kristina; Grossová, Iva; Wünschová, Hanka; Tavačová, Terezia; Hašková, Jana; Segeťová, Markéta; Štoček, Jakub; Gřegořová, Andrea; Zoubková, Veronika; Petřková, Jana; Dobiáš, Martin; Makuša, Michal; Blanková, Alžběta; Vajtr, David; Řehulka, Hynek; [...]
  • imprint: Springer Science and Business Media LLC, 2023
  • Published in: International Journal of Legal Medicine
  • Language: English
  • DOI: 10.1007/s00414-023-03007-z
  • ISSN: 0937-9827; 1437-1596
  • Keywords: Pathology and Forensic Medicine
  • Origination:
  • Footnote:
  • Description: <jats:title>Abstract </jats:title><jats:p>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. </jats:p>