Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation

  • Giacomo Tini
  • Pier Filippo Vianello
  • Chiara Gemelli
  • Marina Grandis
  • Marco CanepaEmail author
Original Article
Part of the following topical collections:
  1. Special Issue: Amyloidosis


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.


Transthyretin Amyloidosis Amyloid cardiomyopathy Tyr78Phe Transthyretin familial amyloid polyneuropathy 


Compliance with Ethical Standards

This study complied with all ethical standards involving human subjects. The patient consented to participation into clinical surveys by signing an informed consent.

Conflict of Interest

The authors declare that they have no conflict of interest.


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Giacomo Tini
    • 1
  • Pier Filippo Vianello
    • 1
  • Chiara Gemelli
    • 2
  • Marina Grandis
    • 2
  • Marco Canepa
    • 1
    Email author
  1. 1.Cardiovascular Unit, Department of Internal MedicineUniversity of Genova and San Martino HospitalGenoaItaly
  2. 2.Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI)University of Genova and San Martino HospitalGenoaItaly

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