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

• DOI: 10.1007/s00414-023-03007-z
• Publication Date: 2023-05-15T11:48:29Z
• Authors: Pavel Votýpka; Alice Krebsová; Patricia Norambue...; Petra Peldová; Štěpánka Pohlová ...; Markéta Kulvajtová; Petra Dohnalová; Matěj Bílek; Veronika Stufka; Kristina Rücklová; Iva Grossová; Hanka Wünschová; Terezia Tavačová; Jana Hašková; Markéta Segeťová; Jakub Štoček; Andrea Gřegořová; Veronika Zoubková; Jana Petřková; Martin Dobiáš; Michal Makuša; Alžběta Blanková; David Vajtr; Hynek Řehulka; Ivan Šubrt; Alexander Pilin; Petr Tomášek; Jan Janoušek; Josef Kautzner; Milan Macek
• Keywords: Sudden Death

Abstract Sudden cardiac death (SCD) might have an inherited condition background. Genetic testing supports post-mortem diagnosis and screening of relatives at risk. Our aim is to determine the feasibility a Czech national collaboration group establish clinical importance molecular autopsy family screening. From 2016 2021, we evaluated 100 unrelated SCD cases (71.0% males, age: 33.3 (12.8) years). was performed by next-generation sequencing utilizing panel genes related cardiac/aortic conditions and/or whole exome sequencing. According autopsy, were divided into cardiomyopathies, sudden arrhythmic syndrome, unexplained aortic death. We identified pathogenic/likely pathogenic variants following ACMG/AMP recommendations in 22/100 (22.0%) cases. Since poor DNA quality, indirect affected or healthy parents reaching diagnostic genetic yield 11/24 (45.8%) 1/10 (10.0%), respectively. Cardiological disclose 83/301 (27.6%) risk SCD. as starting material leads high offering valuable alternative when suitable not available. This first multidisciplinary/multicenter study Republic which establishment this type tests. A central coordinator proper communication among centers are crucial for success level.