A detailed pathologic examination of heart tissue from three older patients with Anderson–Fabry disease on enzyme replacement therapy

T 1 Mapping With Cardiovascular MRI Is Highly Sensitive for Fabry Disease Independent of Hypertrophy and Sex

“…31 The finding of normal ECV in the current study and recent work by Sado et al 33 is consistent with a previous autopsy study in 3 FD subjects, which shows limited fibrosis in the septum. 34 The major finding of the current study is the significantly reduced noncontrast T 1 values in the FD group compared with healthy subjects and a group of patients with similar patterns of CR/H. Our results are in good general agreement with Sado et al, 33 who recently showed similar discrimination of patients with FD from several other conditions with similar patterns of LVH using noncontrast T 1 mapping of the myocardium with CMR.…”

“…34 28 and the prevalence of 45% is also similar to previous studies. 28,31 We also showed a sex dependence of noncontrast myocardial T 1 and ECV.…”

Identification and Assessment of Anderson-Fabry Disease by Cardiovascular Magnetic Resonance Noncontrast Myocardial T1 Mapping

“…2 One explanation for the observed results would be that this will lower T1 and not be offset by potential prolongation from fibrosis because this appears absent in the septum of most patients with AFD with LVH, [22][23][24] unlike some other forms of LVH. 25 Histologically, the vacuolation (by light microscopy) and extent of lamellar bodies (by electron microscopy) can be substantial, yet extraction experiments obtain only a few percent by weight of the glycosphingolipid.…”

“…24 Previous autopsy work in 3 cases of severe cardiac involvement in AFD found very little fibrosis in basal septum. 22 Focal fibrosis in the AFD septum is therefore uncommon even in advanced disease; however, we recommend regions of interest be drawn on noncontrast T1 maps in AFD to avoid any areas subsequently shown to have LGE. Second, scar from any cause (infarction, cardiomyopathy) can have fatty metaplasia present, which would give a low T1.…”

Fabry disease

“…Perinuclear vacuolation, intracytoplasmic whorled bodies, myocyte hypertrophy and fibrosis have been described on cardiac biopsy and at postmortem with macroscopic findings of LVH, posterior wall thinning and mild right ventricular hypertrophy. Coronary arteries are thickened without occlusion of the lumen, with little atherosclerotic disease, and while valvular abnormalities have been described, they are rarely clinically significant [29].…”