C82 CARDIOMYOPATHIES AND GENETICS: ACTIVATION OF A SHARED PATH. INSIGHTS FROM CUNEO HOSPITAL

Abstract Introduction In the last few years, genetic investigation has become an active part of diagnostic and therapeutic pathway cardiological patients with cardiomyopathies. Genetic assumes a key role in clinical–decision–making process proband acquiring potential changing clinical action. Patients referred for screening are affected by hypertrophic, arrhythmogenic dilated cardiomyopathy. form it is now well–established notion that some mutations associated increased arrhythmic risk, regardless ejection fraction. This link was implemented 2022 ESC guidelines on ventricular arrhythmias, these can fact benefit from more aggressive approach purpose preventing sudden death. Methods results activated collaboration genetics laboratory. Twenty–two underwent examination testing. Of these, 61% were hypertrophic cardiomyopathy, 22% 11% cardiomyopathy 6% Fabry disease. Two HCM have MYBPC3 gene. A patient exonic mutation GLA gene late onset phenotype. negative NGS panel one uncertain significance (VUS) TTN. remaining analysis ongoing. Conclusions We believe, as cardiologist who deal field cardiomyopathies, importance to acquire integrated vision where diagnosis added alongside traditional tools expertise, risk stratification tool additional element decision–making process.