CONGRESS ABSTRACT

Background. In recent years, growing evidence has highlighted the crucial role of genetic testing in the diagnosis, treatment, and management of patients affected by cardiovascular diseases, particularly cardiomyopathies. However, there is significant variability in the clinical and molecular presentation of these diseases, along with regional heterogeneity in genetic background and disparities in access to medical services. There is a need to develop an operational model that combines technical and molecular diagnostics, imaging, and clinical capabilities tailored to the unique characteristics of different territories. Aim of the Study. The SISAGEN-CARDIO project is a prospective, non-pharmacological, interventional, multicenter, non-profit study aimed at creating a family-centered network for the diagnosis and management of genetic cardiovascular diseases across the Apulia region. Methods. Eligible participants include both inpatients and outpatients diagnosed with genetic cardiovascular conditions. Baseline assessments consist of clinical evaluations, ECG, echocardiography, cardiac MRI, and blood sampling for next-generation sequencing (NGS) of disease-related gene panels. Additional -omics analyses and environmental exposure assessments are planned for selected cohorts. The management protocol will follow the model developed at the Cardiovascular Genetic Disease Center (CMGCV) of IRCCS Policlinico San Matteo in Pavia. A network of regional hubs will provide standardized workflows and data collection via a shared digital platform. An estimated 250 patients are expected to enroll over a 36-month period. Preliminary and Expected Results. The study aims to establish a coordinated regional network that integrates hospital and community care systems. Genetic testing and cascade screening are underway, with data collection including multilevel imaging and biofluid analyses. Early-stage implementation has shown the feasibility of harmonizing workflows and expanding access to genetic services. Radiomic and radiogenomic evaluations are being explored for potential biomarker discovery, and environmental analyses are ongoing to assess gene-environment interactions in distinct subpopulations in Apulia. Conclusion. SISAGEN-CARDIO represents a healthcare initiative addressing genetic cardiovascular diseases by transferring a model that has been successfully operating in Pavia to Southern Italy according to specific needs and diversity of the Apulia region.