[Care pathway for the diagnosis and management of patients with hypertrophic phenotype in the Marche Region: the experience of the Marche Cardiomyopathies Network].

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.