title: Marked cardiomegaly in a patient with familial amyloidotic polyneuropathy after orthotopic liver transplantation: a case study.
abstract: Hepatocyte-derived mutant amyloidogenic transthyretin (ATTR) causes familial amyloidotic polyneuropathy (FAP), for which orthotopic liver transplantation is an established curative treatment. However, some patients with FAP have cardiac amyloidosis after transplantation. Here, we describe a man with an autonomic disorder diagnosed as FAP ATTR Val30Met and marked cardiomegaly after liver transplantation. He underwent orthotopic liver transplantation at 49 years of age and was prescribed prednisolone to prevent graft rejection. Two years later, autonomic dysfunction and severe heart failure gradually developed. He died suddenly at 59. The autopsy revealed marked cardiomegaly (heart weight: 1020 g). Histological and ultrastructural examinations demonstrated massive amyloid deposition and unusual myocardial hypertrophic injury associated with nuclear translocation of the glucocorticoid receptor (GR). No other FAP patients without heart failure showed GR nuclear translocation. GR is a nuclear transcription factor that leads to myocardial hypertrophy, and cumulative prednisolone doses may promote marked cardiomegaly and severe cardiac amyloidosis.
authors.affiliation: Department of Cell Pathology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan. naomi@tokushima-u.ac.jp
authors.forename: Naomi
authors.initials: N
authors.lastname: Sakashita
authors.forename: Seiko
authors.initials: S
authors.lastname: Kagawa
authors.forename: Risako
authors.initials: R
authors.lastname: Date
authors.forename: Tatsuro
authors.initials: T
authors.lastname: Ueno
authors.forename: Takenobu
authors.initials: T
authors.lastname: Nakagawa
authors.forename: Taro
authors.initials: T
authors.lastname: Yamashita
authors.forename: Konen
authors.initials: K
authors.lastname: Obayashi
authors.forename: Toshinori
authors.initials: T
authors.lastname: Ohshima
authors.forename: Mitsuharu
authors.initials: M
authors.lastname: Ueda
authors.forename: Hidehisa
authors.initials: H
authors.lastname: Horiguchi
authors.forename: Yukio
authors.initials: Y
authors.lastname: Ando
authors.forename: Motohiro
authors.initials: M
authors.lastname: Takeya
mesh_terms: D019943:Amino Acid Substitution; D000682:Amyloid / Q000378:metabolism; D028227:Amyloid Neuropathies, Familial / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D000686:Amyloidosis / Q000235:genetics / Q000473:pathology*; D001344:Autopsy; D006332:Cardiomegaly / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D017809:Fatal Outcome; D005938:Glucocorticoids / Q000009:adverse effects / Q000627:therapeutic use; D006084:Graft Rejection / Q000517:prevention & control; D006333:Heart Failure; D006801:Humans; D016031:Liver Transplantation / Q000009:adverse effects*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009206:Myocardium / Q000648:ultrastructure; D011115:Polyneuropathies / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D011239:Prednisolone / Q000009:adverse effects / Q000627:therapeutic use
chemical_list: D000682:Amyloid; D005938:Glucocorticoids; D011239:Prednisolone