Multimodality Imaging Assessment of Fabry Disease

Abstract

Fabry disease is a lysosomal storage disease with a variety of cardiac manifestations. Although not specific for a diagnosis of Fabry disease, certain cardiac imaging findings may be highly suggestive of the diagnosis of Fabry disease in previously undiagnosed patients or cardiac involvement for patients with a known diagnosis of Fabry disease. In this review, we explore the current applications of multimodality cardiac imaging in the diagnosis and monitoring of patients with Fabry disease. Additionally, data regarding tissue characterization by cardiac magnetic resonance imaging and novel nuclear imaging techniques and their role in evaluating phenotype development is discussed.

Keywords: Fabry disease; cardiomegaly; echocardiography; humans; magnetic resonance imaging.