PO103 Inherited cardiac diseases and genetic testing in clinical practice: Experience from a tertiary cardiology center

Abstract Background The role of genetic evaluation in the management of inherited cardiac diseases has been increasing. It contributes to establishing a definitive diagnosis, guiding family screening, and influencing treatment decisions. However, in clinical practice, the rate of genetic test requests remains relatively low. Purpose The aim of this study was to investigate the frequency and results of genetic tests ordered for the diagnosis of inherited cardiac diseases in a cardiology clinic between January 2022 and June 2025. In doing so, the current level of awareness was assessed. Methods Patients for whom genetic testing was requested between January 2022 and June 2025 in our clinic were retrospectively reviewed. Demographic data, reasons for test requests, performed tests, and results were documented. The frequency of genetic test requests relative to the total number of patients was evaluated. In addition, the distribution of test requests among the physicians working in the clinic was examined. Results During the 42-month study period, a total of 38,766 cardiology patients were evaluated by 8 cardiologists. Genetic testing was requested for only 54 of these patients (0.1%). Of these, 52 requests were made by a single physician, while the remaining 2 were requested by other physicians. The most common indications for testing were suspected hypertrophic cardiomyopathy, dilated cardiomyopathy, aortic dilatation, and Brugada syndrome. Among the patients, 75% were male (n=39) and 25% were female (n=13). The mean age was 43.6 years, ranging from 0 to 76 years. The most frequent test indications were dilated cardiomyopathy (n=21), hypertrophic cardiomyopathy (n=6), and aortic dilatation (n=6). Conclusion Requests for genetic testing in inherited cardiac diseases remain limited to a small number of patients in cardiology practice. This results in missed opportunities for family screening and early diagnosis. Increasing awareness of cardiogenetics, promoting multidisciplinary approaches, and integrating guideline recommendations into daily practice are essential.