Case report
Open access
Sep 2026
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...
C. Espinoza Romero, K. De Paula Morales, Christiane Espirito Santo et al.
· JACC Case Reports · 0 citations