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

Diagnostics (Basel). 2023 Aug 4;13(15):2598. doi: 10.3390/diagnostics13152598.

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.

Keywords: Anderson-Fabry disease; T1 mapping; T2 mapping; cardiac magnetic resonance; hybrid imaging; perfusion imaging; strain.

Publication types

  • Review

Grants and funding

This research received no external funding.