Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation


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.

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Correspondence to Marco Canepa.

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

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The authors declare that they have no conflict of interest.

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Tini, G., Vianello, P.F., Gemelli, C. et al. Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation. J. of Cardiovasc. Trans. Res. 12, 514–516 (2019).

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