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

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)
• late gadolinium enhancement (LGE)
• hypertrophic cardiomyopathy