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

Czech version

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‘ workplace: 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: Soud Lék., 67, 2022, No. 2, p. 10-24
Category: Original Article

Overview

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

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Anatomical pathology Forensic medical examiner Toxicology

Kritické zhodnocení rekodifikace znaleckého práva v České republice po prvním roce účinnosti

Article was published in

Forensic Medicine

2022 Issue 2