Heart transplantation for homozygous familial transthyretin (TTR) V122I cardiac amyloidosis

Am J Transplant. 2008 May;8(5):1056-9. doi: 10.1111/j.1600-6143.2008.02162.x. Epub 2008 Mar 2.


Heart failure is the usual cause of death in patients with amyloid cardiomyopathy. The commonest form of hereditary cardiac amyloidosis is associated with the Val122Ile variant of transthyretin (TTR), which is carried by 3-4% of the African American population. Here, we report the outcome of the first cardiac transplantation in a patient with TTR V122I. A 59-year-old Caribbean man presented with biventricular failure. Other than previous bilateral carpel tunnel syndrome, he had been well and had no evidence of extracardiac amyloidosis. An endomyocardial biopsy demonstrated amyloid of TTR type. Sequencing of TTR gene indicated homozygosity for V122I. He underwent cardiac transplantation and 3 years later, remains well with no evidence of allograft or systemic amyloid deposition.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Substitution*
  • Amyloidosis, Familial / genetics*
  • Amyloidosis, Familial / surgery
  • Heart Transplantation*
  • Homozygote
  • Humans
  • Isoleucine
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide*
  • Prealbumin / genetics*
  • Treatment Outcome
  • Valine


  • Prealbumin
  • Isoleucine
  • Valine