Stato dell’arte e progetti della Rete Italiana della Malattia di Anderson-Fabry

Anderson-Fabry disease is a panethnic, rare disease caused by α-galactosidase A deficiency, with subsequent systemic intracellular accumulation of glycosphingolipids. Confined as a nephrological disease for many decades, the widespread use of multimodality imaging techniques over the last 20 years (like cardiac magnetic resonance) has allowed to highlight the frequent and heterogeneous cardiovascular involvement, with important impact on therapeutic strategies and prognosis. However, many grey zones and knowledge gaps remain, both in diagnostic and management approaches. Recently, the Italian Society of Cardiology has promoted the constitution of the Italian Fabry Disease Cardiovascular Registry, aiming to expand our understanding of the disease focusing on cardiovascular manifestations and complications, to improve quality of care and outcomes of these patients.

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Publication Details

Journal
Giornale italiano di cardiologia
Published
2025-09-01
DOI
https://doi.org/10.1714/4542.45431
Primary Topic
Lysosomal Storage Disorders Research
Type
article
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article

Stato dell’arte e progetti della Rete Italiana della Malattia di Anderson-Fabry

Marta Rubino, Serena Serratore, Vanda Parisi, Emanuele Monda et al.
Giornale italiano di cardiologia
Lysosomal Storage Disorders Research
article

Stato dell’arte e progetti della Rete Italiana della Malattia di Anderson-Fabry

Marta Rubino, Serena Serratore, Vanda Parisi, Emanuele Monda, Maria Alessandra Schiavo, Gianfranco Sinagra, Iacopo Olivotto, Maurizio Pieroni, Raffaello Ditaranto, Ciro Indolfi, Elena Biagini, Pasquale Perrone Filardi, Francesco Cappelli, Giuseppe Limongelli
article en

Abstract

Anderson-Fabry disease is a panethnic, rare disease caused by α-galactosidase A deficiency, with subsequent systemic intracellular accumulation of glycosphingolipids. Confined as a nephrological disease for many decades, the widespread use of multimodality imaging techniques over the last 20 years (like cardiac magnetic resonance) has allowed to highlight the frequent and heterogeneous cardiovascular involvement, with important impact on therapeutic strategies and prognosis. However, many grey zones and knowledge gaps remain, both in diagnostic and management approaches. Recently, the Italian Society of Cardiology has promoted the constitution of the Italian Fabry Disease Cardiovascular Registry, aiming to expand our understanding of the disease focusing on cardiovascular manifestations and complications, to improve quality of care and outcomes of these patients.

Giornale italiano di cardiologiaVol. 26(9)
Agostino Gemelli University Polyclinic (IT), Meyer Children's Hospital (IT), Azienda Ospedaliero-Universitaria Careggi (IT), University of Campania "Luigi Vanvitelli" (IT), ERN GUARD-Heart (NL), University of Calabria (IT)
Openalex Percentile: Top 71%
Lysosomal Storage Disorders Research
DOISourceOpenAlex
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Stato dell’arte e progetti della Rete Italiana della Malattia di Anderson-Fabry — Marta Rubino, Serena Serratore, et al. · Giornale italiano di cardiologia (2025) | TGRS Research Map | TGRS