title: Two siblings diagnosed to have transthyretin-related familial amyloid cardiomyopathy around the same time at different hospitals.
abstract: Mutation in the transthyretin (TTR) gene may clinically manifest as cardiomyopathy. Here, we describe 69-year-old and 72-year-old brothers who were diagnosed as having TTR-related familial amyloid cardiomyopathy by endomyocardial biopsy at different hospitals at around the same time. They were not from an endemic area of familial amyloid polyneuropathy. Genetic analysis showed a base change in the TTR gene leading to a p.Val30Met mutation in both patients. Screening of family members, as well as detailed family history taking, is important for the diagnosis of cardiomyopathy of unknown etiology.
authors.affiliation: Department of Cardiology, Osaka Medical College, Japan.
authors.forename: Masatoshi
authors.initials: M
authors.lastname: Miyamura
authors.forename: Fumio
authors.initials: F
authors.lastname: Terasaki
authors.forename: Kazuya
authors.initials: K
authors.lastname: Ishibashi
authors.forename: Chihiro
authors.initials: C
authors.lastname: Shimazaki
authors.forename: Fumiharu
authors.initials: F
authors.lastname: Kimura
authors.forename: Hiroko
authors.initials: H
authors.lastname: Kuwabara
authors.forename: Motomu
authors.initials: M
authors.lastname: Tsuji
authors.forename: Yuro
authors.initials: Y
authors.lastname: Shibayama
authors.forename: Yoshiki
authors.initials: Y
authors.lastname: Sekijima
authors.forename: Kana
authors.initials: K
authors.lastname: Tojo
authors.forename: Nobukazu
authors.initials: N
authors.lastname: Ishizaka
mesh_terms: D000368:Aged; D000682:Amyloid / Q000378:metabolism; D000686:Amyloidosis / Q000175:diagnosis / Q000235:genetics*; D001706:Biopsy; D009202:Cardiomyopathies / Q000175:diagnosis / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D009206:Myocardium / Q000378:metabolism / Q000473:pathology; D011228:Prealbumin / Q000235:genetics*; D035781:Siblings
chemical_list: D000682:Amyloid; D011228:Prealbumin