P356 MARCHE REGIONAL NETWORK FOR CARDIAC AMYLOIDOSIS AND HYPERTOPHIC CARDIOMYOPATHY: INSIGHTS FROM 3–YEAR COLLABORATIVE EXPERIENCE

Abstract

Abstract Background and Methods The management of patients with Cardiac Amyloidosis (CA) and Hypertrophic Cardiomyopathy (HCM) is complex and requires specific skills. Collaboration between centres remains essential because not all centres can perform complex diagnostic techniques (such as endomyocardial biopsy and mass spectrometry) or prescribe disease–modifying therapies, Therefore, in 2019 we created a collaborative network for diagnosis and treatment of CA (TTR and AL) and HCM (sarcomeric and phenocopies) with the aim of enhancing disease awareness among physicians and favoring appropriate access to innovative diagnostic tools/therapies. The network includes all 14 Cardiology Departments and outpatient clinics from 5 Local Health Units. At Referral Centre of the Regional University Hospital, all diagnostic and therapeutic tools necessary for a comprehensive management of CM patients including genetic testing, endomyocardial biopsy, ablation of complex ventricular arrhythmias, and septal myectomy for HOCM, are currently available and at disposal for the entire network. Results Thanks to this network, from December 2019 to December 2022, 283 patients were referred to our Center (fig. 1). Of these, 136 (48%) had CA, 122 (43%) were diagnosed with HCM (68 with obstructive form and 54 with non–obstructive form), 12 (4%) with Anderson Fabry Disease (AFD) and 13 (5%) with other forms of cardiomyopathy (miscellanea: arrhythmogenic, LVNC, etc). As for temporal trends in diagnosis of CM patients, in the first 2 years the diagnosis of HCM was more frequent than that of CA, while the number of CA patients has steadily grown, overtaking that of HCM patients in the last year (fig.2). The number of AFD diagnoses was consistently low over the 3 years, despite the spread use of genetic testing in all HCM patients. All patients with CA (136) were managed according to current algorythm with need of EMB in uncertain cases (8). Of the 136 patients with AC, 122 had TTR while 14 had AL (Fig.3). All patients with ATTR (122) underwent genetic testing: in 14 cases the presence of mutations in the TTR gene was documented (8 Ile68Leu; 4 Val30Met; 2 Val122Ile). 51 ATTR patients were treated with tafamidis, while 3 patients with variant–TTR and neuropathy received patisiran iv. Conclusions Implementing specific clinical network provided excellent results, allowing a precise phenotype/genotype characterization and favoring appropriate access to specific disease–modifying drugs.