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Background: Early diagnosis and prognostic stratification of cardiac transthyretin amyloidosis are crucial. Although 99m Tc 3,3-diphosphono-1,2-propanedicarboxylic acid (DPD) scintigraphy is the preferred method for the non-invasive diagnosis, its accuracy appears to be limited in transthyretin amyloidosis protein (ATTR) V30M mutation. Furthermore, its prognostic value in this mutation is unknown. This study investigated the diagnostic value of DPD scintigraphy to detect ATTR cardiomyopathy in V30M mutation and explored its prognostic value regarding mortality., Methods: A total of 288 ATTR V30M mutation carriers (median age: 46 years; 49% males) without myocardial thickening (defined as septal thickness ≥13mm) attributable to other causes and who underwent DPD scintigraphy were enrolled. ATTR cardiomyopathy was defined by septal thickness ≥13mm and at least one of the criteria: late heart-to-mediastinum (H/M) 123 I-metaiodobenzylguanidine (MIBG) uptake ratio <1.60; electrical heart disease or biopsy-documented amyloidosis., Results: ATTR cardiomyopathy was identified in 41 (14.2%) patients and cardiac DPD uptake in 34 (11.8%). During a mean follow-up of 33.6 ± 1.2 months, 16 patients died (5.6%). Mortality was 14 times higher in patients with ATTR cardiomyopathy, 13 times higher in those with DPD uptake and 10 times higher in those with late H/M MIBG <1.60. The combined assessment of septal thickness and cardiac DPD uptake improved risk stratification: patients without septal thickening and without DPD retention had an excellent prognosis while those who presented either or both of them had a significantly worse prognosis, with 5-year mortality rates ranging from 39.9 to 53.3%., Conclusions: DPD scintigraphy is useful for prognostic stratification of ATTR V30M mutation carriers. Patients without septal thickening and no DPD uptake present the best prognosis compared to those with any signs of cardiac involvement.

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. 99m Tc-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 123 I-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). Cardiac DPD uptake was present in 22 individuals (12.3%) and correlated with parameters indicative of cardiac amyloidosis. 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.