Cardiac Involvement in Paget’s Disease of Bone: Echocardiographic Characterization and Genetic Correlations

investigates how distinct genetic mutations influence cardiac phenotype in PDB. Aims To evaluate structural and functional cardiac alterations in PDB and their association with SQSTM1 and PFN1 variants. Results Seventy-five PDB patients and 153 controls underwent echocardiography. PDB patients showed increased interventricular septal thickness, left ventricular mass index, and E/e′ ratio (p < 0.05), consistent with early diastolic dysfunction and concentric remodeling. Global longitudinal strain and work efficiency were reduced despite preserved ejection fraction. SQSTM1 (P392L) and PFN1 mutations correlated with more extensive skeletal involvement and greater myocardial remodeling. Conclusions PDB is associated with subclinical myocardial dysfunction that varies by genetic background. Early bisphosphonate therapy and cardiac monitoring may prevent progression toward overt heart failure.