Publication details
Genetické vyšetření v kardiologii:Souhrnné vyjádření a doporučení odborníků Pracovní skupiny kardiogenetiky při ČAPK/ČKS , SLG a ČSSL a ST při ČLS JEP
| Title in English | Czech Association for Preventive Cardiology Expert Consensus Statement on the State of Genetic Testing for Inherited Cardiovascular Diseases |
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| Authors | |
| Year of publication | 2023 |
| Type | Article in Periodical |
| Magazine / Source | COR ET VASA |
| MU Faculty or unit | |
| Citation | |
| Web | https://www.e-coretvasa.cz/pdfs/cor/2023/05/16.pdf |
| Doi | http://dx.doi.org/10.33678/cor.2023.057 |
| Keywords | inheritance cardiovascular diseases; genetic examination; cascade cardiology screening |
| Description | In contemporary cardiology, genetics is mainly applied to cardiovascular diseases with Mendelian inheritance. These diseases include cardiomyopathy, hereditary forms of arrhythmic syndromes, aortic syndromes, and some congenital developmental defects. The common risk of all mentioned groups of diseases is sudden cardiac death, which is why post-mortem examination and care for relatives and survivors are an important part. The goal of clinical genetic examination and genetic counselling in cardiology is to carry out a detailed description of the disease - phenotyping, compiling a family tree, cascade cardiology screening in the family and, in indicated cases, molecular genetic diagnosis - genotyping. Knowledge of the molecular nature of genetic diseases opens up the possibilities of the so-called molecular genetic stratification of diseases, the goal of which is personalized care for patients and their relatives. Cardiogenetic examination is a complex matter, where it is necessary to build interdisciplinary teams. Communication between individual experts and teams on a national scale is absolutely essential to ensure care for patients with rare and very rare forms of hereditary disease. |