Utility of Cardiovascular Magnetic Resonance in the Diagnosis of Anderson-Fabry Disease

Abstract

A 54-year-old man was evaluated for a 6-month history of intermittent palpitations with associated shortness of breath, fatigue, and lightheadedness. The episodes would last several hours and were triggered by exertion, although he never experienced syncope. He had no prior medical problems, and he had no family history of heart disease or unexplained sudden death. He was normotensive and had no abnormalities on physical examination. A 12-lead electrocardiogram showed sinus arrhythmia, left bundle-branch block, and left ventricular (LV) hypertrophy with associated ST- and T-wave strain abnormalities (Figure A). A 2-dimensional echocardiogram demonstrated hyperdynamic LV systolic function with an ejection fraction of 65% (online-only Data Supplement Movie I). There was concentric LV hypertrophy, with the ventricular septum and free wall measuring 17 mm at end diastole. Biatrial enlargement was noted, …