Diagnostics (Aug 2023)

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

  • Andrea Ponsiglione,
  • Marco De Giorgi,
  • Raffaele Ascione,
  • Carmela Nappi,
  • Luca Sanduzzi,
  • Antonio Pisani,
  • Serena Dell’Aversana,
  • Alberto Cuocolo,
  • Massimo Imbriaco

DOI
https://doi.org/10.3390/diagnostics13152598
Journal volume & issue
Vol. 13, no. 15
p. 2598

Abstract

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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.

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