title: The first Caucasian patient with p.Val122Ile mutated-transthyretin cardiac amyloidosis treated with isolated heart transplantation.
abstract: Effective treatments for mutated transthyretin (TTR)-related cardiac amyloidosis are limited. Heart transplantation or combined liver-heart transplantation are the most successful options, although results rely on underline mechanism and systemic nature of the disease. In this report, we present the first case of a Caucasian patient with the p.Val122Ile mutated TTR-related cardiac amyloidosis treated with heart transplantation due to this gene mutation frequent in Afro-Americans with a prevalent isolated heart involvement. The choice of isolated heart transplantation instead of combined heart and liver transplantations was based on (1) severe and progressive cardiac disease, (2) evidence of a gene mutation generally associated with isolated cardiac disease and (3) absence of relevant extra-cardiac involvement (with the possible exception of mild peripheral neuropathy). In any case, the very short post-transplant observation period of 10 months does not allow any conclusions on the long-term course of the presented strategy. Finally, it is the first European Caucasian family with the p.Val122Ile TTR mutation that has been described. Till now, very few Caucasian cases of p.Val122Ile mutated TTR-related cardiac amyloidosis have been reported. The patient and some members of his family also had mild peripheral neuropathy suggesting a regional phenotypic heterogeneity of European Caucasian TTR p.Val122Ile.
authors.affiliation: The Cardiothoracic and Vascular Department, Niguarda Ca' Granda Hospital, Milan, Italy.
authors.forename: Enrico
authors.initials: E
authors.lastname: Ammirati
authors.forename: Nicola
authors.initials: N
authors.lastname: Marziliano
authors.forename: Claudia
authors.initials: C
authors.lastname: Vittori
authors.forename: Patrizia
authors.initials: P
authors.lastname: Pedrotti
authors.forename: Manuela A
authors.initials: MA
authors.lastname: Bramerio
authors.forename: Valentina
authors.initials: V
authors.lastname: Motta
authors.forename: Francesco
authors.initials: F
authors.lastname: Orsini
authors.forename: Silvio
authors.initials: S
authors.lastname: Veronese
authors.forename: Piera A
authors.initials: PA
authors.lastname: Merlini
authors.forename: Luigi
authors.initials: L
authors.lastname: Martinelli
authors.forename: Maria
authors.initials: M
authors.lastname: Frigerio
mesh_terms: D000682:Amyloid / Q000235:genetics*; D028226:Amyloidosis, Familial / Q000000981:diagnostic imaging* / Q000235:genetics / Q000601:surgery; D009202:Cardiomyopathies / Q000000981:diagnostic imaging* / Q000235:genetics / Q000601:surgery; D004252:DNA Mutational Analysis; D016027:Heart Transplantation; D006801:Humans; D008297:Male; D008875:Middle Aged; D011228:Prealbumin / Q000235:genetics*; D014463:Ultrasonography; D044465:White People
chemical_list: D000682:Amyloid; D011228:Prealbumin; C076571:transthyretin-related amyloid fibril protein, human