Transthyretin valine-94-alanine, a novel variant associated with late-onset systemic amyloidosis with cardiac involvement

Keywords: Dilated cardiomyopathy, cardiac amyloidosis, transthyretin

Abbreviations: cTnT= cardiac troponin T; FAP= familial amyloid polyneuropathy; HIEF= hybrid isoelectric focusing; LV= left ventricular; NT-proBNP= N-terminal pro-natriuretic peptide; NYHA = New York Heart Association heart failure class; peakVO^sub 2^ =peak oxygen uptake

Abstract

A 63-year-old Caucasian male, diagnosed with dilated cardiomyopathy in 1993, remained clinically stable for several years. In 2003, a marked increase of N-terminal pro-natriuretic peptide serum level (611 ng/ml to 4926 ng/ml) was observed; left ventricular (LV) septum thickness was 10 mm. In addition, sensorimotor polyneuropathy and autonomic ...

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