IMR Press / RCM / Volume 23 / Issue 5 / DOI: 10.31083/j.rcm2305177
Open Access Review
Cardiac Magnetic Resonance Features of Fabry Disease: From Early Diagnosis to Prognostic Stratification
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1 Multimodality Cardiac Imaging Section, IRCCS Policlinico San Donato, San Donato Milanese, 20097 Milan, Italy
2 Department of Clinical Science and Community Health, University of Milan, 20122 Milan, Italy
3 Department of Cardiology, San Donato Hospital, 52100 Arezzo, Italy
4 Department of Cardiovascular and Thoracic Sciences, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy
*Correspondence: (Antonia Camporeale)
Academic Editors: Grigorios Korosoglou and Sophie Mavrogeni
Rev. Cardiovasc. Med. 2022, 23(5), 177;
Submitted: 17 February 2022 | Revised: 1 April 2022 | Accepted: 15 April 2022 | Published: 16 May 2022
Copyright: © 2022 The Author(s). Published by IMR Press.
This is an open access article under the CC BY 4.0 license.

In the past few years, the wide application of cardiac magnetic resonance (CMR) significantly changed the approach to the study of cardiac involvement in Fabry Disease (FD). The possibility to perform non-invasive tissue characterization, including new sequences such as T1/T2 mapping, offered a powerful tool for differential diagnosis with other forms of left ventricular hypertrophy. In patients with confirmed diagnosis of FD, CMR is the most sensitive non-invasive technique for early detection of cardiac involvement and it provides new insight into the evolution of cardiac damage, including gender-specific features. Finally, CMR multiparametric detection of subtle changes in cardiac morphology, function and tissue composition is potentially useful for monitoring the efficacy of specific treatment over time. This paper aims to provide a comprehensive review of current knowledge regarding the application of CMR in FD cardiac involvement and its clinical implication.

fabry disease
cardiac magnetic resonance
late gadolinium enhancement
T1 mapping
Fig. 1.
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