Is 99mTc-diphosphonate uptake the earliest sign of cardiac amyloidosis development in asymptomatic Glu89Gln transthyretin gene mutation carriers?
نویسندگان
چکیده
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.
منابع مشابه
Disphosphonates cardiac uptake in familial amyloid neuropathy: Comparison between DPD and HMDP
Background Familial amyloid polyneuropathy (FAP) is a severe hereditary disease, due to production by the liver of a genetic variant transthyretin (TTR) resulting in tissue amyloid deposits. Cardiac involvement is of major prognostic value. Diphosphonate scintigraphy has been proposed as a diagnostic tool for TTR-related cardiac amyloidosis, but there is no consensus on the optimal radiopharmac...
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Background Glu89Gln transthyretin (TTR) variant is a well-known cause of systemic amyloidosis with a cardiologic, neurologic or mixed phenotype. Even though Glu89Gln transthyretin (TTR) variant has been described worldwide, it remains unknown whether geographical area influences the phenotypic expression of the disease (as happens with the Val30Met mutation, which is known to manifest with diff...
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