Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2025 Nov 5:444:134011.
doi: 10.1016/j.ijcard.2025.134011. Online ahead of print.

Impact of cardiac magnetic resonance on the clinical management of patients with Fabry disease: Data from the CMR Italian research and CLinical nEtwork for Fabry disease (CIRCLE-FD)

Antonia Camporeale  1 , Giada De Angeli  2 , Gianluigi Guida  3 , Federico Pieruzzi  4 , Laura Econimo  5 , Paola Lusardi  6 , Irene Motta  7 , Renzo Mignani  8 , Marco Spada  9 , Maurizio Pieroni  10 , Marco Canepa  11 , Yuri Battaglia  12 , Francesca Graziani  13 , Marta Rubino  14 , Sabrina Caruso  15 , Stefania Piga  16 , Chiara Lanzillo  17 , Irene Simonetta  18 , Corinna Antonia Inserra  19 , Anna Bersano  20 , Sara Boveri  21 , Andrea Attanasio  22 , Giandomenico Disabato  23 , Lara Tondi  1 , Pietro Spagnolo  24 , Massimo Piepoli  25 , Gianpaolo Carrafiello  26 , Massimo Lombardi  27
Affiliations

Impact of cardiac magnetic resonance on the clinical management of patients with Fabry disease: Data from the CMR Italian research and CLinical nEtwork for Fabry disease (CIRCLE-FD)

Antonia Camporeale et al. Int J Cardiol. .

Abstract

Objectives: Since 2016, IRCCS Policlinico San Donato has led a network of referral centres for Fabry Disease (FD), performing over 350 cardiac magnetic resonance (CMR) scans with T1/T2 mapping in FD patients. A survey assessing the impact of CMR on the clinical management of FD patients was sent to the referring clinicians within this network, called CIRCLE-FD (CMR Italian Research and Clinical Network for FD).

Results: Of the 217 questionnaires submitted, 191 (88 %) were completed by 17 clinicians. Most patients were female (59 %), aged 20-60 (74 %), left ventricle hypertrophy (LVH) negative (67 %) with no late gadolinium enhancement (LGE) (74 %) and low myocardial T1 (61 %). CMR was considered crucial in managing FD patients in 138 cases (72 %): in 116 cases to manage FD-specific therapy; in 32 cases to support decisions regarding cardiological therapy; in 68 cases to plan follow-up; and in 65 cases for more than one of the above options. Overall, the most useful CMR data was the T1 value (53 % of responses), followed by the severity of LVH (29 % of responses) and LGE extension (18 % of responses). The initiation of FD-specific therapies was prompted in LVH-negative patients with low T1, while follow-up was extended for patients, mainly females, with normal T1.

Conclusions: CMR performed within the CIRCLE-FD was considered useful for managing FD patients. To optimise its efficacy, this examination should be performed by expert personnel and include T1/T2 mapping in the scan protocol, possibly with the purpose of answering clinical issues through research projects.

Keywords: Cardiac magnetic resonance; Fabry disease; T1 mapping.

PubMed Disclaimer

Conflict of interest statement

Declaration of competing interest Antonia Camporeale received honoraria for presentations and board meetings from Amicus Therapeutics and Sanofi Genzyme and has modest relationship. Federico Pieruzzi received honoraria from Sanofi Genzyme, Shire, Chiesi and Amicus Therapeutics and has modest relationship. Laura Econimo received speaker, advisory board honoraria and travel support from Sanofi Genzyme. Received travel support from Chiesi and Takeda. Modest relationship. Irene Motta received honoraria, research grant and Expert Witness from Sanofi and honoraria from Amicus Therapeutics; Modest relationship. Renzo Mignani recevied honoraria, travel support and Expert Witness with Sanofi-Genzyme, Takeda, Chiesi and Amicus Therapeutics; Modest relationship. Marco Spada received speaker and advisory board honoraria, and travel support from Sanofi Genzyme, Takeda-Shire, and Chiesi and has modest relationship. Maurizio Pieroni received speaker and advisory board honoraria, and travel support from Sanofi Genzyme and Amicus Therapeutics and has modest relationship. Marco Canepa received honoraria for presentations and board meetings from Amicus Therapeutics and Sanofi Genzyme and has modest relationship. Yuri Battaglia received honoraria from Sanofi Genzyme, and Amicus Therapeutics and has modest relationship. Francesca Graziani received research grants from Takeda and Pfizer; she has also received advisory board or consultancy fees and Travel Support from Amicus Therapeutics, Sanofi, Takeda, Bristol Meyer Squibb, Alnylam and Pfizer. Sabrina Caruso received honoraria for presentations from Genzyme and Amicus and has modest relationship. Chiara Lanzillo received travel sponsor from Genzyme, Shire and Amicus. Massimo Lombardi received honoraria for presentations from Shire with modest relationship. The other authors report no conflicts.

LinkOut - more resources