Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis
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Background: Hereditary transthyretin amyloid (ATTRv) is a systemic amyloidosis with mainly neurological and cardiac symptoms. The aim of this study was to evaluate the outcome of [18F]Flutemetamol PET/CT-scan of the heart in long-term survivors with ATTRV30M amyloidosis. Methods: Twenty-one patients with ATTRV30M amyloidosis and predominantly neurological symptoms, mainly negative on cardiac 99mtechnetium-3,3-diphosphono-1,2-propanodicarboxylic acid (DPD)-scintigraphy, were examined with a dynamic [18F]Flutemetamol PET/CT-scan. ⋯ Results: Patients with ATTRv amyloidosis had a higher cardiac uptake than the control-group in all analysed regions of the heart and could be identified with high accuracy (sensitivity 88%, specificity 100%) in static image acquisition at 30 or 60 min. We found no correlation between cardiac [18F]Flutemetamol uptake and clinical variables. Conclusion: In this small study of selected patients, cardiac [18F]Flutemetamol PET/CT could differentiate between healthy individuals and patients with ATTRV30M. [18F]Flutemetamol PET/CT imaging of amyloidosis in patients with a negative DPD-scintigraphy has a potential as a diagnostic method.
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Background: Destabilised transthyretin (TTR) can result in the progressive, fatal disease transthyretin-mediated (ATTR) amyloidosis. A stabilising TTR mutation, T119M, is the basis for a therapeutic strategy to reduce destabilised TTR. Recently, T119M was associated with extended lifespan and lower risk of cerebrovascular disease in a Danish cohort. ⋯ Cox proportional hazards regression showed similar results (hazard ratio >1, p>.05). Age at death and vascular disease diagnosis were similar between T119M carriers and non-carriers (p = .12 and p = .38, respectively). Conclusions: There was no association between the TTR T119M genotype and risk of vascular disease or death in a large prospective cohort study, indicating that TTR tetramer stabilisation through T119M is not protective in this setting.
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Background: There is a growing need for a non-invasive test to detect cardiac involvement in patients with transthyretin-related hereditary amyloidosis (ATTR) caused by V30M mutation. 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid (DPD) scintigraphy is a promising method, but its accuracy in this particular mutation remains unknown. Methods: A cohort of 179 patients: 92 with early-onset disease (EoD, symptoms <50-years-old), 33 with late-onset disease (LoD) and 54 asymptomatic carriers were prospectively evaluated and underwent DPD scintigraphy, which was compared with the results of echocardiogram, ambulatory blood pressure monitoring, 24 h-Holter, myocardial 123I-metaiodobenzylguanidine imaging and NT-proBNP. Results: Amyloid cardiomyopathy, defined as septal thickness ≥13 mm, was present in 32 patients (17.9%) and was more frequent in those with LoD (OR: 3.68, p = .003). ⋯ DPD imaging was strongly influenced by the age of disease onset: among patients with myocardial thickening, cardiac DPD retention was present in 11/15 (73.3%) with LoD, in contrast to only 4/17 (26.7%) with EoD (p = .005). Two patients with myocardial thickening and normal DPD scintigraphy underwent endomyocardial biopsy that confirmed ATTR amyloidosis. Conclusion: DPD scintigraphy presents suboptimal sensitivity to detect cardiac involvement in ATTRV30M, particularly in symptomatic patients with EoD.