CMR demonstration of multiple morphological phenotypes in Anderson-Fabry disease

Methods All patients with confirmed AFD who had cardiac MRI at our center were included. Short-axis steady state free precession cines and segmented inversion recovery late gadolinium enhancement (LGE) images were acquired using standard parameters. Offline analysis was performed for LV volumes and maximum end-diastolic wall thickness (EDWTmax). Patients were categorized into 4 groups: 1) no wall thickening (EDWT≤12mm); 2) concentric hypertrophy (EDWTmax>12mm with septal to lateral wall thickness ratio <1.3); 3) asymmetric hypertrophy (EDWTmax >12mm with septal to lateral wall thickness ratio ≥1.3); and 4) apical hypertrophy. LGE was quantified using a semi-automated technique with thresholds of 2SD, 4SD and 6SD. Charts were reviewed for clinical information.