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Bone scintigraphy in the diagnosis of mTTR amyloidosis: different performance in Portuguese variant?
Session:
Painel 9 - Doença Valvular 5
Speaker:
André Dias de Frias
Congress:
CPC 2020
Topic:
F. Valvular, Myocardial, Pericardial, Pulmonary, Congenital Heart Disease
Theme:
17. Myocardial Disease
Subtheme:
17.3 Myocardial Disease – Diagnostic Methods
Session Type:
Posters
FP Number:
---
Authors:
André Dias De Frias; Patricia Rodrigues; Maria Trêpa; Marta Fontes Oliveira; Ricardo Costa; Andreia Campinas; Inês Silveira; Severo Torres
Abstract
<p><u>Introduction</u>: Bone scintigraphy using radioactive technetium-99m and 3,3-diphosphono-1,2-propanodicarboxylic acid(DPD) has been increasingly used to diagnose myocardial involvement of mutated(m) or wild-type(wt) transthyretin amyloidosis(ATTR). However, most studies that proved a high sensitivity and specificity of the technique were not in patients with the “portuguese variant”(Val30Met) mutation in transthyretin(TTR).</p> <p><u>Methods</u>: Observational study of patients referred to Cardiology clinic with suspicion of ATTR cardiomyopathy. We only included patients with data from echocardiogram and DPD scan.</p> <p><u>Results</u>: Of 273 patients with suspicion of cardiac ATTR, we studied 97 patients that did an echocardiogram and a DPD scan. Among the 75 cases with Val30Met mATTR, median age was 36(IQR 34) and 60% were males. 60 had increased ventricular wall thickness(IVWT) <u>></u>12 mm, but only 24 had a positive DPD(defined as a visual score <u>></u>2). Although a higher VWT was associated with a positive DPD(p=0.004), 18 patients with a negative scan had IVWT <u>></u>14 mm. The DPD results was significantly associated with prior liver transplantation(LT)- p<0.001 - and age at first symptoms - p<0.001; 66.7±10.5 versus 34.8±10.2 years-old for those with and without a positive scan, respectively. Interestingly, fewer patients with a positive scan had neurologic symptoms(74% versus 96%, p= 0.009), ophthalmologic, urologic or renal involvement, even though creatinine clearance was on average lower(p=0.01). We found no significant association between DPD result and sex, conduction disorders, biomarkers or tafamidis treatment. 4 patients with negative DPD did an endomyocardial biopsy, that was positive for amyloid in 3 cases. In comparison, in the 22 cases with wtATTR, there were significantly more males(86%) and patients were older (median age was 81(IQR 9)). All patients had IVWT(that was significantly higher than in mATTR) and DPD scan was negative in only 2 patients(that had a visual score of 1). Systolic dysfunction was significantly more frequent(59% versus 8%), as were death or hospitalization for heart failure.</p> <p><u>Conclusions</u>: DPD-scintigraphy seems more sensitive in patients with late onset mutated ATTR or with wild-type ATTR. It is less accurate in early onset patients with Val30Met mutation and particularly if they underwent LT. In those patients, further investigation is needed before excluding myocardial involvement.</p>
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