Percorso clinico-assistenziale per la diagnosi e la gestione dei pazienti con cardiomiopatia a fenotipo ipertrofico nella Regione Marche: l’esperienza della Rete Marchigiana Cardiomiopatie

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BACKGROUND: The aim of this study was to describe the clinical care pathway and results of the first 6 years of activity of the Marche Cardiomyopathy Network (MCN) dedicated to cardiomyopathies with a hypertrophic phenotype. METHODS: The analysis was based on data from the registry of the regional referral center and on a survey conducted in 2025 within the MCN. RESULTS: Between 2019 and 2025, 552 patients with cardiomyopathy with a hypertrophic phenotype were evaluated at the referral center, with a progressive increase in case volume (from 50 to 552 patients). Cardiac amyloidosis (CA) accounted for 51% of cases, followed by sarcomeric hypertrophic cardiomyopathy (45%) and Anderson-Fabry disease (4%). Among the hereditary forms of CA (Ile68Leu as the most frequent mutation, 50% of cases), the prevalence was 12 per million inhabitants. In peripheral centers, the number of patients in follow-up increased by 209% compared with 2021 (from 211 to 441), with a predominance of CA (67%). Dedicated outpatient clinics were available in 54% of centers, and 85% of them had cardiologists with specific expertise. CONCLUSIONS: The MCN has contributed to increased diagnostic rates, wider dissemination of expertise, and improved access to therapies, highlighting the key role of clinical networks in the management of complex cardiomyopathies.

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