The sensitivity of DPD scintigraphy to detect transthyretin cardiac amyloidosis in V30M mutation depends on the phenotypic expression of the disease.

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. Tc-3,3-diphosphono-1,2-propanodicarboxylic acid (DPD) scintigraphy is a promising method, but its accuracy in this particular mutation remains unknown. 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 I-metaiodobenzylguanidine imaging and NT-proBNP. 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,  = .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 ( = .005). Two patients with myocardial thickening and normal DPD scintigraphy underwent endomyocardial biopsy that confirmed ATTR amyloidosis. DPD scintigraphy presents suboptimal sensitivity to detect cardiac involvement in ATTRV30M, particularly in symptomatic patients with EoD.