Fabry Disease: More than a Phenocopy of Hypertrophic Cardiomyopathy

Stankowski, Kamil; Figliozzi, Stefano; Battaglia, Vincenzo; Catapano, Federica; Francone, Marco; Monti, Lorenzo

doi:10.3390/jcm12227061

Open AccessReview

Fabry Disease: More than a Phenocopy of Hypertrophic Cardiomyopathy

by

Kamil Stankowski

^1,2

,

Stefano Figliozzi

^1,2,

Vincenzo Battaglia

^1,2,

Federica Catapano

^1,2,

Marco Francone

^1,2 and

Lorenzo Monti

^1,2,*

¹

Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini, 4, Pieve Emanuele, 20090 Milano, Italy

²

Humanitas Research Hospital IRCCS, Via Alessandro Manzoni, 56, Rozzano, 20089 Milano, Italy

^*

Author to whom correspondence should be addressed.

J. Clin. Med. 2023, 12(22), 7061; https://doi.org/10.3390/jcm12227061

Submission received: 6 October 2023 / Revised: 6 November 2023 / Accepted: 10 November 2023 / Published: 13 November 2023

(This article belongs to the Special Issue Advancements in Diagnosis and Management of Hypertrophic Cardiomyopathy and Amyloidosis)

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

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MDPI and ACS Style

Stankowski, K.; Figliozzi, S.; Battaglia, V.; Catapano, F.; Francone, M.; Monti, L. Fabry Disease: More than a Phenocopy of Hypertrophic Cardiomyopathy. J. Clin. Med. 2023, 12, 7061. https://doi.org/10.3390/jcm12227061

AMA Style

Stankowski K, Figliozzi S, Battaglia V, Catapano F, Francone M, Monti L. Fabry Disease: More than a Phenocopy of Hypertrophic Cardiomyopathy. Journal of Clinical Medicine. 2023; 12(22):7061. https://doi.org/10.3390/jcm12227061

Chicago/Turabian Style

Stankowski, Kamil, Stefano Figliozzi, Vincenzo Battaglia, Federica Catapano, Marco Francone, and Lorenzo Monti. 2023. "Fabry Disease: More than a Phenocopy of Hypertrophic Cardiomyopathy" Journal of Clinical Medicine 12, no. 22: 7061. https://doi.org/10.3390/jcm12227061

APA Style

Stankowski, K., Figliozzi, S., Battaglia, V., Catapano, F., Francone, M., & Monti, L. (2023). Fabry Disease: More than a Phenocopy of Hypertrophic Cardiomyopathy. Journal of Clinical Medicine, 12(22), 7061. https://doi.org/10.3390/jcm12227061

Note that from the first issue of 2016, this journal uses article numbers instead of page numbers. See further details here.

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Fabry Disease: More than a Phenocopy of Hypertrophic Cardiomyopathy

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