Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation

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

Research output: Contribution to journalArticle

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.

LanguageEnglish
JournalJournal of Cardiovascular Translational Research
DOIs
Publication statusAccepted/In press - Jan 1 2019
Externally publishedYes

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)

Cite this

Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation. / Tini, Giacomo; Vianello, Pier Filippo; Gemelli, Chiara; Grandis, Marina; Canepa, Marco.

In: Journal of Cardiovascular Translational Research, 01.01.2019.

Research output: Contribution to journalArticle

Tini, Giacomo ; Vianello, Pier Filippo ; Gemelli, Chiara ; Grandis, Marina ; Canepa, Marco. / Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation. In: Journal of Cardiovascular Translational Research. 2019.
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