title: Heart transplantation for homozygous familial transthyretin (TTR) V122I cardiac amyloidosis.
abstract: 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.
authors.affiliation: Cardiology and Transplantation, The Royal Brompton and Harefield NHS Trust, Harefield Hospital, Harefield, Middlesex UB9 6JH, UK.
authors.forename: I M
authors.initials: IM
authors.lastname: Hamour
authors.forename: H J
authors.initials: HJ
authors.lastname: Lachmann
authors.forename: H J B
authors.initials: HJ
authors.lastname: Goodman
authors.forename: M
authors.initials: M
authors.lastname: Petrou
authors.forename: M M
authors.initials: MM
authors.lastname: Burke
authors.forename: P N
authors.initials: PN
authors.lastname: Hawkins
authors.forename: N R
authors.initials: NR
authors.lastname: Banner
mesh_terms: D019943:Amino Acid Substitution; D028226:Amyloidosis, Familial / Q000235:genetics* / Q000601:surgery; D016027:Heart Transplantation; D006720:Homozygote; D006801:Humans; D007532:Isoleucine; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011228:Prealbumin / Q000235:genetics*; D016896:Treatment Outcome; D014633:Valine
chemical_list: D011228:Prealbumin; D007532:Isoleucine; D014633:Valine