Cardiac sympathetic neuronal damage precedes myocardial fibrosis in patients with Anderson-Fabry disease

摘要

Abstract Purpose Cardiac sympathetic denervation may be detectable in patients with Anderson-Fabry disease (AFD), suggesting its usefulness for early detection of the disease. However, the relationship between sympathetic neuronal damage measured by 123 I–metaiodobenzylguanidine (MIBG) imaging with myocardial fibrosis on cardiac magnetic resonance (CMR) is still unclear. Methods Cardiac sympathetic innervation was assessed by 123 I–MIBG single-photon emission computed tomography (SPECT) in 25 patients with genetically proved AFD. Within one month from MIBG imaging, all patients underwent contrast-enhanced CMR. MIBG defect size and fibrosis size on CMR were measured for the left ventricle (LV) and expressed as %LV. Results Patients were divided into three groups according to MIBG and CMR findings: (1) matched normal, without MIBG defects and without fibrosis on CMR ( n ?=?10); (2) unmatched, with MIBG defect but without fibrosis ( n ?=?5); and (3) matched abnormal, with MIBG defect and fibrosis ( n ?=?10). The three groups did not differ with respect to age, gender, α-galactosidase, proteinuria, glomerular filtration rate, and troponin I, while New York Heart Association class ( p ?=?0.008), LV hypertrophy ( p ?=?0.05), and enzyme replacement therapy ( p ?=?0.02) were different among groups. Although in patients with matched abnormal findings, there was a significant correlation between MIBG defect size and area of fibrosis at CMR (r 2 ?=?0.98, p ? p ?=?0.02). Conclusion Sympathetic neuronal damage is frequent in AFD patients, and it may precede myocardial damage, such as fibrosis. Thus, 123 I–MIBG imaging can be considered a challenging technique for early detection of cardiac involvement in AFD.