Multi-modality cardiovascular imaging assessment in Fabry disease

Ashwin Roy, Mohamed Mansour, David Oxborough, Tarekegn Geberhiwot, Richard Steeds

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Fabry disease (FD) is a rare X-linked lysosomal storage disorder manifesting as progressive multi-organ accumulation of sphingolipids due to deficiency in the enzyme α-Galactosidase A. Sphingolipid accumulation can take place in all cardiac cell types which manifests as left ventricular hypertrophy, microvascular ischaemia, conduction abnormalities, arrhythmia, heart failure, and valvular disease. The use of advanced cardiovascular imaging techniques have enabled clinicians to stage and prognosticate the disease and guide therapy. Transthoracic echocardiography (TTE) and cardiac magnetic resonance imaging (CMR) in conjunction are the hallmark imaging modalities to allow for this assessment. Traditionally, the assessment of cardiac involvement in FD was based on the assessment of maximal wall thickness (MWT) and the development of left ventricular hypertrophy (LVH). It is now understood that sphingolipid accumulation takes place before the development of LVH. Advances in techniques within TTE and CMR, particularly that of strain assessment and T1/T2 mapping, have meant that Fabry cardiomyopathy (FCM) can be diagnosed earlier in the disease process. This potentially provides a window for initiation of enzyme replacement therapy (ERT) at a stage where it is likely to have the most beneficial effect in reducing the high mortality associated with FCM. This review outlines the advances in multimodality imaging in staging and prognosticating FCM, as well as the applications of cardiac imaging in assessing symptoms and complications of FCM.
Original languageEnglish
Article number1605
Number of pages17
JournalApplied Sciences
Issue number3
Publication statusPublished - 2 Feb 2022

Bibliographical note

Funding Information:
R.S. acknowledges part?funding from the NIHR West Midlands Senior Clinical Scholarship.

Publisher Copyright:
© 2022 by the authors. Li-censee MDPI, Basel, Switzerland.


  • Fabry disease
  • cardiomyopathy
  • transthoracic echocardiography
  • cardiac magnetic resonance Imaging
  • artificial intelligence


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