Atypical Distribution of Late Gadolinium Enhancement of the Left Ventricle on Cardiac Magnetic Resonance in Classical Anderson-Fabry Disease

Shusuke Kasuya; Masayo Suzuki; Tsutomu Inaoka; Masayuki Odashima; Tomoya Nakatsuka; Rumiko Ishikawa; Wataru Tokuyama; Hitoshi Terada

doi:10.5334/jbr-btr.906

Atypical Distribution of Late Gadolinium Enhancement of the Left Ventricle on Cardiac Magnetic Resonance in Classical Anderson-Fabry Disease

J Belg Soc Radiol. 2016 Jan 29;100(1):6. doi: 10.5334/jbr-btr.906.

Authors

Shusuke Kasuya¹, Masayo Suzuki², Tsutomu Inaoka¹, Masayuki Odashima¹, Tomoya Nakatsuka¹, Rumiko Ishikawa¹, Wataru Tokuyama³, Hitoshi Terada¹

Affiliations

¹ Department of Radiology, Toho University Sakura Medical Center, Sakura, Japan.
² Department of Internal Medicine, Toho University Sakura Medical Center, Sakura, Japan.
³ Division of Surgical Pathology, Toho Univeristy Sakura Medical Center, Sakura, Japan.

Abstract

Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by a deficiency of alpha-galactosidase A. Approximately 50% of patients with AFD may have cardiac involvement. Gadolinium-enhanced cardiac magnetic resonance (CMR) is useful for the diagnosis of cardiac involvement of AFD by recognizing typical late gadolinium enhancement (LGE) patterns. We report a 48-year-old man with cardiac involvement in classical AFD, showing atypical distribution of the LGE at the mid-lateral wall of left ventricle, predominantly apical segments without basal involvement on gadolinium-enhanced CMR.

Keywords: Anderson-Fabry disease (AFD); cardiac magnetic resonance (CMR); hypertrophic cardiomyopathy; late gadolinium enhancement (LGE).