Hereditary ATTR Amyloidosis with Cardiomyopathy Caused by the Novel Variant Transthyretin Y114S (p.Y134S)

Intern Med. 2019 Sep 15;58(18):2695-2698. doi: 10.2169/internalmedicine.2456-18. Epub 2019 Jun 7.

Abstract

We report the clinical features of a patient with hereditary transthyretin (ATTR) amyloidosis associated with a novel mutation (Y114S, p.Y134S). A 65-year-old Japanese man was admitted to our hospital after a 3-year history of progressive dyspnea on exertion. Five years previously, he presented dysesthesia in both hands caused by carpal tunnel syndrome. A genetic analysis revealed a base pair substitution of adenine to cytosine in the second codon of exon 4, residue 114, in the TTR gene (c.401A>C). The clinical characteristics were progressive cardiomyopathy with a poor vital prognosis, late onset, sporadic case, bilateral carpal tunnel syndrome, hypothyroidism, and small fiber neuropathy.

Keywords: amyloid; cardiomyopathy; mutation; tafamidis; transthyretin.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Amyloid Neuropathies, Familial / genetics*
  • Amyloid Neuropathies, Familial / physiopathology
  • Cardiomyopathies / genetics*
  • Carpal Tunnel Syndrome / genetics
  • Carpal Tunnel Syndrome / physiopathology
  • Exons
  • Genetic Testing
  • Humans
  • Hypothyroidism / genetics
  • Male
  • Mutation
  • Neural Conduction
  • Prealbumin / genetics*

Substances

  • Prealbumin
  • TTR protein, human

Supplementary concepts

  • Amyloidosis, Hereditary, Transthyretin-Related