[Rationale and significance of the Italian Network for Cardiac Amyloidosis]
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Updated: Aug 11, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Gianfranco Sinagra1, Michele Emdin2, Marco Merlo1
1S.C. Cardiologia, Dipartimento Cardiotoracovascolare, Centro per la Diagnosi e Cura delle Cardiomiopatie, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI) e Università degli Studi di Trieste, Trieste - European Reference Network for rare, low prevalence, or complex diseases of the Heart (ERN GUARD-Heart).
Abstract:
The perspective on amyloidosis has changed deeply over the last 10 years following major advances in diagnosis and treatment options, especially in cardiac amyloidosis. This intrinsically heterogeneous disease exposes to the risk of fragmentation of knowledge and requires the interaction among experts of different specialties and subspecialties. Suspicion of disease, timely recognition and confirmation of final diagnosis, prognostic stratification, clinical management and therapeutic strategies represent essential steps to be taken. Missing or delaying the diagnosis may have dramatic impact on patient outcome, as in the case of chemotherapy in unrecognized light-chain amyloidosis. Therefore, there is an urgent need for the foundation of an Italian Amyloidosis Network to deal with the challenges of this condition and orient clinical management at national and local levels. The present consensus document aims to provide the rationale and scopes of the Italian Amyloidosis Network, which has been conceived as an organizational framework for professionals managing patients with amyloidosis.
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