Fabry Disease: More Than a Phenocopy of Hypertrophic Cardiomyopathy

Overview

Journal J Clin Med

Specialty General Medicine

Date 2023 Nov 25

PMID 38002674

Authors

Kamil Stankowski

Stefano Figliozzi

Vincenzo Battaglia

Federica Catapano

Marco Francone

Lorenzo Monti

Affiliations

Soon will be listed here.

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.

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