Focal reduction in left ventricular 123 I-metaiodobenzylguanidine uptake and impairment in systolic function in patients with Anderson-Fabry disease

Background Abnormalities of cardiac sympathetic innervation have been demonstrated in Anderson-Fabry disease (AFD). We aimed to investigate the relationship between regional left ventricular (LV) denervation and regional function abnormalities. Methods Twenty-four AFD patients (43.7 ± 12.8 years) were studied by 123 I-metaiodobenzylguanidine (MIBG) cardiac imaging and speckle-tracking echocardiography. Segmental tracer uptake was estimated according to 0 to 4 score, and total defect score (TDS) was calculated for each patient. Results Segmental longitudinal strain worsened as MIBG uptake score increased ( P < 0.001). By ROC analysis, a segmental longitudinal strain > − 16.2% predicted a segmental MIBG uptake score ≥1, with 79.7% sensitivity and 65.3% specificity. Segmental MIBG uptake defects were found in 13 out 24 AFD patients. LV mass index (60.8 ± 10.1 vs. 41.4 ± 9.8 g/h 2.7 ), relative wall thickness (0.51 ± 0.06 vs. 0.40 ± 0.06), systolic pulmonary artery pressure (35.2 ± 6.7 vs. 27.2 ± 4.2 mmHg), and longitudinal strain (− 14.3 ± 2.7 vs. −19.4 ± 1.8%) were significantly higher in patients with segmental defect (all P < 0.01). At multivariate linear regression analysis, global longitudinal strain was independently associated with TDS ( B = 3.007, 95% confidence interval 1.384 to 4.630, P = 0.001). Conclusions Reduced cardiac MIBG uptake reflects the severity of cardiac involvement in AFD patients. LV longitudinal function impairment seems to be an earlier disease feature than regional myocardial denervation.