CONGRESS ABSTRACT

INTRODUCTION: over the last year our center has empowered a specific clinic for the follow-up of patients affected by cardiomyopathies. In this context, genetic testing was offered to specific patients suspected of having genetically determined cardiomyopathies. We present here how we organized the genetic diagnostic pathway of these patients and the result of the first year of activity. METHODS: the diagnostic workup of patients with a suspect of genetically determined cardiomyopathies was implemented with the goal of time and resources optimization. After a comprehensive evaluation by clinical cardiologists the blood sample of patients who gave their informed consent are directly referred to the reference center for NGS analysis. In particular, patients are considered for NGS when they have familiarity for cardiomyopathies and/or when a clear explanation for their clinical picture is lacking. A dedicated platform is employed to require genetic testing by cardiologists and to provide meaningful information to the geneticists performing the genetic analysis. Once test results are available, all patients are offered a joint consultation with the cardiologist and medica geneticists to discuss the results. RESULTS: a total of 69 patients were recruited during the first year of this project. The majority of patients (60 patients) underwent NGS, whereas a minority (9 patients) underwent Sanger sequencing. The clinical suspects prompting NGS were DCM (20 patients), HCM (14 patients), ARVD (10 patients), amyloidosis (10 patients), NCM (2 patients), or others (4 patients). To date, 47 patients ha received the results of their genetic investigation, with a mean time from blood sampling to test results date of 88 days. In particular, the results of testing showed: 4 pathogenic variants (C5), 13 likely pathogenic variants (C4), 24 variants of uncertain significance (C3) and 22 negative results. The remaining 22 patients are waiting for results and subsequent genetic counseling, as they underwent test in the last 3 months. CONCLUSIONS: easy and time effective access to genetic testing is of paramount importance in the management of patients with cardiomyopathies. Here we presented the results of an innovative approach to optimize the diagnostic workup of these diseases, which allowed us to provide answers to the patients in a fast and effective way, optimizing our resources and avoiding the loss of patients during follow-up.