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

Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by a deficiency of alphagalactosidase A. The estimated birth prevalence of AFD ranges from 1:40,000 to 1:117,000 worldwide. Approximately 50% of patients with AFD may have cardiac involvement, and malignant arrhythmias are the predominant cause of the substantially increased morbidity and reduced life expectancy. Currently, intravenous enzyme replacement therapy is believed to be effective in slowing and halting disease progression, although the success of therapy depends on the stage of the disease [1]. Therefore, the accurate and early diagnosis of AFD is critical for the success of therapy. Moon JC et al. [2] first reported that cardiac magnetic resonance (CMR) may be useful for the diagnosis of cardiac involvement of AFD by recognizing late gadolinium enhancement (LGE) in the left ventricular (LV) wall. They histologically proved that LGE might be caused by focal myocardial collagen scarring (fibrosis) in AFD [3]. Therefore, CMR has been used to screen for cardiac AFD [4]. De Cobelli F et al. [5] reported the usefulness of gadolinium-enhanced CMR to differentiate cardiac AFD from symmetric hypertrophic cardiomyopathy, assuming the LGE at the inferolateral basal or mid-basal segments of the lateral wall of LV with a mid-myocardial distribution, sparring the subendocardium was specific for AFD. We experienced a case of atypical distribution of LGE at the mid-lateral wall, predominantly apical segments without basal involvement in a patient with classical AFD. Herein we present this case.