Transthyretin Amyloidosis Due to a Rare TTR Val142del Deletion With Relatively Early Clinical Manifestations
Background Hereditary transthyretin amyloidosis shows marked phenotypic heterogeneity. In-frame deletions at codon 142 are exceedingly rare, and their cardiac expression remains poorly characterized. Case Summary A 62-year-old man presented with progressive neuropathy, autonomic dysfunction, weight loss, and recurrent...