Cardiac magnetic resonance imaging in Fabry disease.

Abstract

Fabry disease (FD) is a rare X-linked lysosomal storage disorder. Cardiac involvement is frequent in the classic phenotype and late-onset cardiac variant of FD. It is challenging to distinguish FD cardiomyopathy from other forms of unexplained left ventricular hypertrophy, especially in those patients without extracardiac manifestations. Cardiac magnetic resonance imaging is an essential imaging modality for the quantitative and qualitative assessment of FD cardiomyopathy. It helps to monitor disease progress and allows early disease detection in the mild form or subclinical cardiac phenotypes. This review illustrates the characteristic imaging features of FD cardiomyopathy in cardiac MRI, aiming to enhance the awareness of this disease entity among the scope of unexplained cardiomyopathy and promote timely enzyme replacement therapy for patients.