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Background Presenting symptoms in patients with Glu89Gln transthyretin (TTR) gene mutation are related to peripheral and autonomic nervous system damage; nevertheless, Glu89Gln TTR gene mutation is responsible for early and severe cardiac involvement (which significantly worsens the prognosis). Early diagnosis of cardiac involvement in subjects with TTR gene mutation can significantly affect patient therapy. We compared 99mTc-3, 3-diphosphono-1, 2-propanodicarboxylic acid (DPD) imaging with electrocardiography (ECG), echocardiography, biomarkers dosage (N-terminal pro–B-type natriuretic peptide (NTproBNP) and troponin-I) and magnetic resonance (MR) imaging with late gadolinium enhancement (LGE) in order to determine the most sensitive technique in early detection of cardiac amyloid deposition in subjects with Glu89Gln TTR gene mutation.

Is 99mTc-diphosphonate uptake the earliest sign of cardiac amyloidosis development in asymptomatic Glu89Gln transthyretin gene mutation carriers?