Publication details
Genetické vyšetření v kardiologii: Aktualizované souhrnné vyjádření a doporučení odborníků pracovní skupiny kardiogenetiky při ČAPK/ČKS, SLG a ČSSL a ST při ČLS JEP
| Title in English | Genetické vyšetření v kardiologii: Aktualizované souhrnné vyjádření a doporučení odborníků pracovní skupiny kardiogenetiky |
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| Authors | |
| Year of publication | 2025 |
| Type | Article in Periodical |
| Magazine / Source | COR ET VASA |
| MU Faculty or unit | |
| Citation | |
| web | https://www.e-coretvasa.cz/artkey/cor-202504-0015_geneticke-vysetreni-v-kardiologii-aktualizovane-souhrnne-vyjadreni-a-doporuceni-odborniku-pracovni-skupiny-kar.php |
| Doi | https://doi.org/10.33678/cor.2025.084 |
| Keywords | Cardiac arrest Cardiomyopathy Familiar hypercholesterolemias Hereditary aortic syndromes Hereditary arrhythmic syndromes Risk score |
| Description | In contemporary cardiology, genetics is mainly applied to cardiovascular diseases with Mendelian inherit- ance. These diseases include cardiomyopathies, hereditary forms of arrhythmic syndromes, aortic syndromes, congenital heart defects, and hyperlipoproteinemias. Complex testing in cardiogenetics includes family cascade screening, which should be performed in conjunc- tion with molecular genetic testing and contributes to the identifi cation of pathogenic DNA variants. Sudden cardiac death is a common risk for all of these disease groups; therefore, postmortem genetic testing (molecular autopsy) is an important part of cardiogenetics and includes examination of relatives. Knowledge of the molecular basis of genetic diseases opens up the possibility of personalized care. Cardio- genetic testing is a matter for interdisciplinary teams of cardiologists, geneticists, autopsy performing physi- cians, neurologists, lipidologists, angiologists, and other professions. Communication between the different professionals and teams, both locally and nationally, is essential to ensure quality and standardised care for patients with inherited cardiovascular diseases. Recent recommendations from the European Societies |