Two Siblings Diagnosed to Have Transthyretin-related Familial Amyloid Cardiomyopathy Around the Same Time at Different Hospitals
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概要
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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.
著者
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Ishibashi Kazuya
Department Of Cardiology Kyoto Prefectural Yosanoumi Hospital
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Tojo Kana
Department of Medicine (Neurology), Shinshu University School of Medicine
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Tsuji Motomu
Department Of Pathology Itami City Hospital
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Shibayama Yuro
Department Of Pathology Osaka Medical College
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Kuwabara Hiroko
Department Of Industrial Chemistry Gunma Technical College
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Shimazaki Chihiro
Department Of Hematology Kyoto Social Insurance Hospital
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Miyamura Masatoshi
Department Of Cardiology Osaka Medical College
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Terasaki Fumio
Department Of Cardiology Osaka Medical College
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Ishizaka Nobukazu
Department Of Cardiology Osaka Medical College
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Shimazaki Chihiro
Department of Hematology, Social Insurance Kyoto Hospital, Japan
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Sekijima Yoshiki
Division of Clinical and Molecular Genetics, Shinshu University Hospital, Japan
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Kimura Fumiharu
Department of Neurology, Osaka Medical College, Japan
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Tsuji Motomu
Department of Pathology, Osaka Medical College, Japan
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Tojo Kana
Department of Medicine (Neurology & Rheumatology), Shinshu University School of Medicine, Japan
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