Key result
Multimodality cardiac imaging, including cardiac magnetic resonance and novel nuclear techniques, plays a key role in the diagnosis, monitoring, and tissue characterization of Fabry disease.
Why the study?
Fabry disease has various cardiac manifestations, and certain cardiac imaging findings can suggest the diagnosis or identify cardiac involvement.
Multimodality cardiac imaging, including CMR and nuclear techniques, is valuable for diagnosing and monitoring cardiac involvement in patients with Fabry disease.
Multimodality imaging aids Fabry diagnosis and monitoring; leaves open prospective validation of standardized protocols.
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.
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Tower‐Rader et al. (2019) conducted a review in Fabry disease. Multimodality cardiac imaging was evaluated. Multimodality cardiac imaging, including cardiac magnetic resonance and novel nuclear techniques, plays a key role in the diagnosis, monitoring, and tissue characterization of Fabry disease.
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