Cor Vasa 2023, 65(5):798-805 | DOI: 10.33678/cor.2023.057

(Czech Association for Preventive Cardiology Expert Consensus Statement on the State of Genetic Testing for Inherited Cardiovascular Diseases)

Alice Krebsová^a, Eva Kutílková^a, Veronika Zoubková^b, Terezia Tavačová^c, Petra Peldová^b, Lenka Piherová^d, Pavel Votýpka^b, Štěpánka Pohlová Kučerová^e, Ilga Grochová^f, Andrea Gřegořová^g, Daniela Žáková^h, Tomáš Freiberger^h, Jan Janoušek^c, Tomáš Novotnýⁱ, Milan Macek^b

^a Centrum dědičných kardiovaskulárních onemocnění, Klinika kardiologie, Institut klinické a experimentální medicíny, Praha, ERN GUARD-Heart

^b Ústav biologie a lékařské genetiky, 2. lékařská fakulta Univerzity Karlovy a Fakultní nemocnice Motol, Praha, ERN ITHACA

^c Dětské kardiocentrum, 2. lékařská fakulta Univerzity Karlovy a Fakultní nemocnice Motol, Praha, ERN GUARD-Heart

^d Klinika dětí a dorostu, 1. lékařská fakulta Univerzity Karlovy a Všeobecná fakultní nemocnice v Praze, Praha

^e Ústav soudního lékařství, Lékařská fakulta Univerzity Karlovy a Fakultní nemocnice Hradec Králové, Hradec Králové

^f I. interní kardioangiologická klinika, Fakultní nemocnice u sv. Anny v Brně a Centrum prenatální diagnostiky Brno, Brno

^g Ústav klinické a molekulární patologie a lékařské genetiky (ÚKMPLG), Fakultní nemocnice Ostrava, Ostrava

^h Lékařská fakulta Masarykovy univerzity a Centrum kardiovaskulární a transplantační chirurgie Brno, Brno

ⁱ Interní kardiologická klinika, Lékařská fakulta Masarykovy univerzity a Fakultní nemocnice Brno, Brno

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.

Keywords: Genetic analysis, Family cascade screening, Inherited cardiovascular diseases, 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.

Received: June 27, 2023; Revised: June 27, 2023; Accepted: July 16, 2023; Published: October 15, 2023  Show citation