title: An Isolated Case of Late-onset Amyloidogenic Transthyretin Type Familial Amyloid Polyneuropathy Associated with a Mutant Transthyretin Substituting Methionine for Valine at Position 30 Showing Latent Progressive Cardiac Involvement Confirmed by Serial Annual Electrocardiograms.
abstract: Late-onset amyloidogenic transthyretin (ATTR) type familial amyloid polyneuropathy (FAP) shows features distinct from those of early-onset hereditary ATTR type FAP. We herein describe an asymptomatic 68-year-old man with late-onset ATTR type FAP whose serial annual electrocardiograms demonstrated progressive left bundle branch block. Latent but severe cardiac involvement seems to be one feature of late-onset ATTR type FAP, similar to senile systemic amyloidosis (SSA). Early differential diagnosis of late-onset ATTR type FAP from SSA is important because, currently, only the former has new therapeutic options available in Japan. The present case report, therefore, highlights the necessity of careful observation for periodic electrocardiograms.
authors.affiliation: Division of Cardiovascular Medicine, Department of Internal Medicine, Kobe University Graduate School of Medicine, Japan.
authors.forename: Chikako
authors.initials: C
authors.lastname: Sato
authors.forename: Tomofumi
authors.initials: T
authors.lastname: Takaya
authors.forename: Shumpei
authors.initials: S
authors.lastname: Mori
authors.forename: Kohei
authors.initials: K
authors.lastname: Hasegawa
authors.forename: Fumitaka
authors.initials: F
authors.lastname: Soga
authors.forename: Hidekazu
authors.initials: H
authors.lastname: Tanaka
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Watanabe
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Nishii
authors.forename: Atsushi K
authors.initials: AK
authors.lastname: Kono
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Morinaga
authors.forename: Hatsue
authors.initials: H
authors.lastname: Ishibashi-Ueda
authors.forename: Ken-Ichi
authors.initials: KI
authors.lastname: Hirata
mesh_terms: D000368:Aged; D028227:Amyloid Neuropathies, Familial / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D044466:Asian People / Q000235:genetics; D006332:Cardiomegaly / Q000209:etiology* / Q000503:physiopathology; D003924:Diabetes Mellitus, Type 2; D003937:Diagnosis, Differential; D004562:Electrocardiography; D006801:Humans; D007564:Japan; D008297:Male; D008715:Methionine / Q000235:genetics; D014633:Valine / Q000235:genetics
chemical_list: D008715:Methionine; D014633:Valine