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Cardiac Amyloidosis Associated With a Novel Transthyretin Aspartic Acid-18 Glutamic Acid De Novo Mutation
http://hdl.handle.net/10458/00010540
http://hdl.handle.net/10458/00010540d9c263c4-e019-4235-b5ae-b04de11dd28a
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
67_965 (376.5 kB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2023-02-27 | |||||
| タイトル | ||||||
| タイトル | Cardiac Amyloidosis Associated With a Novel Transthyretin Aspartic Acid-18 Glutamic Acid De Novo Mutation | |||||
| 言語 | en | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| キーワード | ||||||
| 言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | Amyloidosis | |||||
| キーワード | ||||||
| 言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | Restrictive cardiomyopathy | |||||
| キーワード | ||||||
| 言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | Syncope | |||||
| キーワード | ||||||
| 言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | Transthyretin | |||||
| 資源タイプ | ||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
| 資源タイプ | journal article | |||||
| 著者 |
中里, 雅光
× 中里, 雅光× 小松, 弘幸× 鶴田, 敏博× Imamura, Takuroh× Date, Yukari× Ashizuka, Shinya× Aoyama, Fumiyo× Sumi, Motoko× Ishikawa, Tetsunori× Hirayama, Naoteru× Matsuo, Takeshi× Eto, Tanenao |
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| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | A 40-year-old man presented with initial symptoms of syncope caused by restrictive cardiomyopathy and autonomic nervous system impairment, but it was confirmed that he had a novel transthyretin （TTR） variant, aspartic acid-18 glutamic acid （Glu）, and a de novo gene mutation. A polymerase chain reaction-induced mutation restriction analysis with a mismatched sense primer demonstrated that he was heterozygous for TTR Glu 18. Liver transplantation was not performed because of profound weakness and severe postural hypotension. Right-sided heart failure predominated in association with low output syndrome and a gradual decrease in total QRS voltage on electrocardiogram over 5 years of follow-up. Autonomic neuropathy developed and he eventually died of both-sided heart failure at the age of 45 years. Immunohistochemical and DNA studies are important to diagnose and treat TTR-related cardiac amyloidosis. | |||||
| 書誌情報 |
en : Circulation Journal 巻 67, 号 11, p. 965-968, 発行日 2003 |
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| 出版者 | ||||||
| 出版者 | 日本循環器学会 | |||||
| ISSN | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 13469843 | |||||
| DOI | ||||||
| 関連タイプ | isIdenticalTo | |||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | https://doi.org/10.1253/circj.67.965 | |||||
| 権利 | ||||||
| 権利情報 | © 2003 THE JAPANESE CIRCULATION SOCIETY | |||||
| 関連サイト | ||||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | https://doi.org/10.1253/circj.67.965 | |||||
| 関連名称 | J-Stage | |||||
| フォーマット | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | application/pdf | |||||
| 著者版フラグ | ||||||
| 出版タイプ | VoR | |||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
