| Abstract | Kardiomiopatije su bolesti miokarda karakterizirane strukturalnim i funkcionalnim poremećajem srčanog mišića sa složenom etiopatogenezom. Mogu dovesti do razvoja akutnog i kroničnog srčanog zatajivanja, malignih aritmija, formacije tromba i tromboembolijskih incidenata i iznenadne srčane smrti. Unatoč opsežnim naporima medicinske zajednice, klasifikacija kardiomiopatija i dalje je problematična zbog značajnog fenotipskog i genotipskog preklapanja između različitih oblika bolesti. Tradicionalno ih dijelimo na hipertrofijsku, dilatativnu i restriktivnu kardiomiopatiju. Jonathan i Christine Seidman 1990. otkrili su prvu mutaciju u MYH7 genu povezanu s razvojem hipertrofijske kardiomiopatije (HCM), čime je započelo istraživanje složene genetske osnove kardiomiopatija. Dugo godina analiza genetske podloge kardiomiopatija bila je ograničena skupocjenim i vremenski iscrpnim metodama. Otkrićem sekvenciranja nove generacije (NGS) omogućeno je brže, jeftinije i opsežnije testiranje. Genetsko ispitivanje provodi se kod pacijenata s potvrđenom dijagnozom, sumnjom na bolest te u članova obitelji i krvnih srodnika pacijenata s dokazanom uzročnom mutacijom. Ovakvo ispitivanje omogućuje potvrdu dijagnoze, otkrivanje bolesti u ranoj fazi, promjenu tijeka bolesti, prepoznavanje bolesti u krvnih srodnika i članova obitelji te primjenu ciljane terapije. Ovakva praksa nosi s sobom i brojne etičke dileme, uključujući psihološki utjecaj na pacijente, obiteljske implikacije te zaštitu prava i privatnosti pacijenata. Implementacija genetskog testiranja u svakodnevnu kliničku praksu s vremenom će postati standard, a uz razvoj dijagnostičkih algoritama omogućit će ranije postavljanje dijagnoze, procjenu rizika i informiranje pacijenata i krvnih srodnika o zdravstvenom stanju. |
| Abstract (english) | Cardiomyopathies are myocardial diseases characterized by structural and functional abnormalities of the heart muscle with complex etiopathogenesis. They can lead to the development of acute and chronic heart failure, malignant arrhythmias, the formation of thrombus and thromboembolic events, and sudden cardiac death. Despite extensive efforts of the medical community, cardiomyopathies are still very difficult to classify due to significant phenotypic and genotypic overlap between different forms of the disease. Traditionally, they are classified into hypertrophic, dilated, and restrictive cardiomyopathy. In 1990, Jonathan and Christine Seidman discovered the first mutation in the MYH7 gene associated with the development of hypertrophic cardiomyopathy (HCM), marking the beginning of research into the complex genetic basis of cardiomyopathies. For many years, the analysis of the genetic background of these diseases was limited by expensive and time-consuming methods. The discovery of next-generation sequencing (NGS) has enabled faster, cheaper, and more extensive testing. Genetic testing is conducted in patients with a confirmed diagnosis, those suspected of having the disease, and family members and relatives of patients with a proven causal mutation. This testing allows for the confirmation of diagnoses, early disease detection, alteration of disease progression, identification of the disease in relatives, and application of targeted therapy. Such practices carry numerous ethical dilemmas, including the psychological impact on patients, family implications, and protecting patients' rights and privacy. The implementation of genetic testing in everyday clinical practice will gradually become standard. With the development of diagnostic algorithms, it will enable earlier diagnosis, risk assessment, and the informing of patients and their relatives about their health condition. |
