Reduced Right Ventricular Native Myocardial T(1) in Anderson-Fabry Disease: Comparison to Pulmonary Hypertension and Healthy Controls

AIMS: Anderson-Fabry disease (AFD) is characterized by progressive multiorgan accumulation of intracellular sphingolipids due to α-galactosidase A enzyme deficiency, resulting in progressive ventricular hypertrophy, heart failure, arrhythmias, and death. Decreased native (non-contrast) left ventricular (LV) T(1) (longitudinal relaxation time) with MRI discriminates AFD from healthy controls or other presentations of concentric hypertrophy, but the right ventricle (RV) has not been studied. The aims of the current study were to evaluate native RV T(1) values in AFD, with a goal of better understanding the pathophysiology of RV involvement. METHODS AND RESULTS: Native T(1) values were measured in the inferior RV wall (RVI), interventricular septum (IVS), and inferior LV (LVI) in patients with AFD, patients with pulmonary hypertension, who provided an alternative RV pathological process for comparison, and healthy controls. A minimum wall thickness of 4 mm was selected to minimize partial volume errors in tissue T(1) analysis. T(1) analysis was performed in 6 subjects with AFD, 6 subjects with PH, and 21 controls. Native T(1) values were shorter (adjusted p<0.05 for all comparisons), independent of location, in subjects with AFD (RVI-T(1) = 1096±49 ms, IVS-T(1) = 1053±41 ms, LVI-T(1) = 1072±44 ms) compared to both PH (RVI-T(1) = 1239±41 ms, IVS-T(1) = 1280±123 ms, LVI-T(1) = 1274±57 ms) and HC (IVS-T(1) = 1180±60 ms, LVI-T(1) = 1183±45 ms). RVI measurements were not possible in controls due to insufficient wall thickness. CONCLUSION: Native T(1) values appear similarly reduced in the left and right ventricles of individuals with AFD and RV wall thickening, suggesting a common pathology. In contrast, individuals with PH and thickened RVs showed increased native T(1) values in both ventricles, suggestive of fibrosis.