Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation

Giacomo Tini, Pier Filippo Vianello, Chiara Gemelli, Marina Grandis, Marco Canepa

Research output: Contribution to journalArticlepeer-review

Abstract

Tyr78Phe is a rare pathogenic transthyretin (TTR) mutation. Few previous reports described a late-onset hereditary transthyretin-related amyloidosis (ATTR-m) form with a variable phenotype, mainly dominated by neurological manifestations. We describe the case of a 69-year-old male with massive but asymptomatic cardiac infiltration and only subclinical neurological involvement, and review the literature to depict characteristics of the Tyr78Phe TTR mutation.

Original languageEnglish
Pages (from-to)514-516
Number of pages3
JournalJournal of Cardiovascular Translational Research
Volume12
Issue number6
DOIs
Publication statusPublished - Dec 2019

Keywords

  • Amyloid cardiomyopathy
  • Amyloidosis
  • Transthyretin
  • Transthyretin familial amyloid polyneuropathy
  • Tyr78Phe

ASJC Scopus subject areas

  • Molecular Medicine
  • Genetics
  • Pharmaceutical Science
  • Cardiology and Cardiovascular Medicine
  • Genetics(clinical)

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