Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation

J Cardiovasc Transl Res. 2019 Dec;12(6):514-516. doi: 10.1007/s12265-018-9859-0. Epub 2019 Jan 2.

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.

Keywords: Amyloid cardiomyopathy; Amyloidosis; Transthyretin; Transthyretin familial amyloid polyneuropathy; Tyr78Phe.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Aged
  • Amyloid Neuropathies, Familial / diagnosis
  • Amyloid Neuropathies, Familial / genetics*
  • Cardiomyopathies / diagnosis
  • Cardiomyopathies / genetics*
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Mutation*
  • Phenotype
  • Prealbumin / genetics*
  • Severity of Illness Index

Substances

  • Prealbumin
  • TTR protein, human

Supplementary concepts

  • Amyloidosis, Hereditary, Transthyretin-Related