Advanced CMR Techniques in Anderson-Fabry Disease: State of the Art

Author:

Ponsiglione Andrea1ORCID,De Giorgi Marco1,Ascione Raffaele2,Nappi Carmela1,Sanduzzi Luca1,Pisani Antonio3,Dell’Aversana Serena4ORCID,Cuocolo Alberto1ORCID,Imbriaco Massimo1ORCID

Affiliation:

1. Department of Advanced Biomedical Sciences, University of Naples Federico II, 80131 Naples, Italy

2. Department of Diagnostic Imaging, Pineta Grande Hospital, 81030 Castel Volturno, Italy

3. Department of Public Health, University of Naples Federico II, 80131 Naples, Italy

4. Department of Radiology, Santa Maria delle Grazie Hospital, ASL Napoli 2 Nord, 80078 Pozzuoli, Italy

Abstract

Anderson-Fabry disease (AFD) is a rare multisystem X-linked lysosomal storage disorder caused by α-galactosidase A enzyme deficiency. Long-term cardiac involvement in AFD results in left ventricular hypertrophy and myocardial fibrosis, inducing several complications, mainly arrhythmias, valvular dysfunction, and coronary artery disease. Cardiac magnetic resonance (CMR) represents the predominant noninvasive imaging modality for the assessment of cardiac involvement in the AFD, being able to comprehensively assess cardiac regional anatomy, ventricular function as well as to provide tissue characterization. This review aims to explore the role of the most advanced CMR techniques, such as myocardial strain, T1 and T2 mapping, perfusion and hybrid imaging, as diagnostic and prognostic biomarkers.

Publisher

MDPI AG

Subject

Clinical Biochemistry

Reference59 articles.

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