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Outcomes of a multicenter study of the causes of sudden cardiac death (SCD) in the Czech Republic and primary prevention of cardiac arrest in relatives


Authors: Kučerová Pohlová Štěpánka 1;  Krebsová Alice 2;  Votýpka Pavel 3;  Peldová Petra 3;  Kulvajtová Markéta 4;  Dohnalová Petra 5;  Bílek Matěj 5,6;  Stufka Veronika 6;  Rücklová Kristina 7;  Grossová Iva 8;  Wünschová Hanka 2;  Tavačová Terezia 9;  Hašková Jana 2;  Segeťová Markéta 2;  Gřegořová Andrea 10;  Zoubková Veronika 3;  Petřková Jana 11,12,13;  Dobiáš Martin 14;  Makuša Michal 15;  Blanková Alžběta 16;  Veitr David 16;  Řehulka Hynek 17;  Šubrt Ivan 18;  Pilin Alexander 6;  Tomášek Petr 5;  Janoušek Jan 9;  Kautzner Josef 2;  Macek Milan Jr. 3
Authors place of work: Ústav soudního lékařství LF UK a FN Hradec Králové 1;  Klinika kardiologie, IKEM, Praha 2;  Ústav biologie a lékařské genetiky 2. LF UK a FN Motol, Praha 3;  Ústav soudního lékařství 3. LF UK a FNKV, Praha. 4;  Ústav soudního lékařství 2. LF UK a Fakultní nemocnice Bulovka, Praha 5;  Ústav soudního lékařství a toxikologie 1. LF UK a VFN v Praze 6;  Klinika dětí a dorostu 3. LF UK a FNKV, Praha 7;  Vojenský ústav soudního lékařství, ÚVN, Praha 8;  Dětské kardiocentrum 2. LF UK a FN Motol, Praha 9;  Ústav klinické a molekulární patologie a lékařské genetiky FN Ostrava 10;  I. interní klinika – kardiologická FNOL a LF UP, Olomouc 11;  Ústav lékařské genetiky FNOL, Olomouc 12;  Ústav patologické fyziologie LF UP, Olomouc 13;  Ústav soudního lékařství a medicínského práva FNOL a LF UP, Olomouc 14;  Soudnělékařské oddělení Nemocnice České Budějovice 15;  Oddělení soudního lékařství a toxikologie Krajské nemocnice Liberec 16;  Ústav soudního lékařství LF v Plzni, UK Praha, a FN Plzeň 17;  Ústav lékařské genetiky LF v Plzni, UK Praha, a FN Plzeň 18
Published in the journal: Soud Lék., 67, 2022, No. 2, p. 10-24
Category: Original Article

Summary

Sudden cardiac death (SCD) in individuals younger than 40 years has a heritable cause in a significant part of the cases. Identification of SCD, post mortem genetic analysis along with the cardiological screening examination in first degree represents an important diagnostic tool for the primary prevention of cardiac arrest in victim´s relatives and requires multicentric and multidisciplinary collaboration. Between 2016 and 2021 the complex cardiogenetic analysis was performed in 115 deaths with post mortem diagnosis of cardiomyopathy, acute aortic dissection and cases without morphological finding explaining the cause of death (sudden arrhythmic death or sudden unexplained death). DNA was isolated from post mortem collected tissue samples or relative´s blood and subjected to massively parallel sequencing (Illumina, USA) in extent of 100 to 20 000 genes. Sequencing results were analysed using the SOPHiA GENETICS DDM bioinformatics platform (Switzerland). Genetic counselling and cardiological examinations were carried out in 328 family members. Highly likely or certain molecular aetiology (i.e. based on presence of ACMG.net Class 4 to 5 variants) was disclosed in 19,8 % of analysed cases in RYR2, KCNH2, KCNQ1, SCN5A, FLNC (stop), GLA, TTN, TNNT2, RBM 20, MYBPC3, MYPN, FHL1, TGFBR1, and COL3A1 genes. With cardiogenetic screening we identified 25 % relatives at risk of life threating arrhythmias and offered them an individualised care.

Keywords:

prevention – genetic analysis – guidelines – sudden cardiac death – inherited cardiovascular diseases


Zdroje

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Štítky
Anatomical pathology Forensic medical examiner Toxicology
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