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Review
. 2023 Nov 13;12(22):7061.
doi: 10.3390/jcm12227061.

Fabry Disease: More than a Phenocopy of Hypertrophic Cardiomyopathy

Kamil Stankowski  1   2 , Stefano Figliozzi  1   2 , Vincenzo Battaglia  1   2 , Federica Catapano  1   2 , Marco Francone  1   2 , Lorenzo Monti  1   2
Affiliations
Review

Fabry Disease: More than a Phenocopy of Hypertrophic Cardiomyopathy

Kamil Stankowski et al. J Clin Med. .

Abstract

Fabry disease (FD) is a genetic lysosomal storage disease with frequent cardiovascular involvement, whose presence is a major determinant of adverse clinical outcomes. As a potentially treatable cause of left ventricular hypertrophy (LVH) and heart failure with preserved ejection fraction, the early recognition of FD is crucial to initiate enzyme replacement therapy and improve long-term prognosis. Multimodality imaging plays a central role in the evaluation of patients with FD and helps in the differential diagnosis of other conditions presenting with LVH. In the present review, we explore the current applications of multimodality cardiac imaging, in particular echocardiography and cardiovascular magnetic resonance, in the diagnosis, prognostic assessment, and follow-up of patients with FD.

Keywords: CMR; cardiovascular magnetic resonance; echocardiography; hypertrophy; late gadolinium enhancement; speckle tracking.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Echocardiographic features of a patient with Fabry disease on ERT. (A–C) Parasternal long-axis view, short-axis view at the level of the papillary muscles and four-chamber apical view, respectively, showing concentric left ventricular hypertrophy (double-edged arrows; septum 17 mm) with hypertrophy of the papillary muscles. (D) Subcostal four-chamber view demonstrating RV hypertrophy (double-edged arrow). (E) Reduced tissue Doppler septal strain e’ wave (6 cm/s). (F) Normal RV function (TAPSE 23 mm). (G) Reduced global longitudinal strain (−14.3%) with a regional reduction in the basal and mid inferolateral segments (arrow). ERT: Enzyme replacement therapy; RV: right ventricular.
Figure 2
Figure 2
CMR findings in Fabry disease. (A) Cine short-axis view demonstrating concentric LV hypertrophy (double-edged arrow). LGE short-axis at the basal level (B) and three-chamber view (C) demonstrating intramural LGE in the basal inferolateral wall (arrow). (D) T1 mapping showing reduced intramyocardial T1 values: ROI 905 ± 35 ms at 1.5 T. (E) ECV map showing normal intramyocardial values: ROI 26 ± 3%. (F) Cine short-axis view demonstrating concentric LV hypertrophy and papillary muscles hypertrophy in a patient with advanced disease. (G) LGE short-axis view at the level of the papillary muscles showing extensive intramural LGE at the lateral segments and other foci in the septum and RV. (H) T1 mapping showing pseudo-normalization of T1 values (1021 ± 98 ms at 1.5 T) with areas demonstrating reduced values and areas, such as the one indicated by the arrow, corresponding to LGE, with focal elevation up to 1100 ms. CMR: cardiovascular magnetic resonance; LV: left ventricular; LGE: late gadolinium enhancement; ROI: region of interest; ECV: extracellular volume; RV: right ventricular.
See this image and copyright information in PMC

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