| Autor: |
Štěpánka KP, Alice K, Pavel V, Petra P, Markéta K, Petra D, Matěj B, Veronika S, Kristina R, Iva G, Hanka W, Terezia T, Jana H, Markéta S, Andrea G, Veronika Z, Jana P, Martin D, Michal M, Alžběta B, David V, Hynek Ř, Ivan Š, Alexander P, Petr T, Jan J, Josef K, Milan M Jr |
| Jazyk: |
angličtina |
| Zdroj: |
Soudni lekarstvi [Soud Lek] 2022 Summer; Vol. 67 (2), pp. 10-24. |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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