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Heterogeneity of clinical manifestation of hypertrophic cardiomyopathy caused by deletion of lysine 183 in cardiac troponin I gene: Insight from two autopsy cases with an identical sarcomeric gene mutation
http://hdl.handle.net/2297/31473
http://hdl.handle.net/2297/314736e568bfe-3f94-431b-81a5-00e5011d10fb
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
ME-PR-NAKANUMA-Y-214.pdf (1.7 MB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||
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| 公開日 | 2017-10-03 | |||||
| タイトル | ||||||
| タイトル | Heterogeneity of clinical manifestation of hypertrophic cardiomyopathy caused by deletion of lysine 183 in cardiac troponin I gene: Insight from two autopsy cases with an identical sarcomeric gene mutation | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| 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 |
Funada, Akira
× Funada, Akira× Masuta, Eiichi× Fujino, Noboru× Hayashi, Kenshi× Ino, Hidekazu× Kita, Yoshihito× Ikeda, Hiroko× Fujii, Takahiko× Nakanuma, Yasuni× Yamagishi, Masakazu |
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| 書誌情報 |
International Heart Journal 巻 51, 号 3, p. 214-217, 発行日 2010-01-01 |
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| ISSN | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 1349-2365 | |||||
| NCID | ||||||
| 収録物識別子タイプ | NCID | |||||
| 収録物識別子 | AA12013242 | |||||
| DOI | ||||||
| 関連タイプ | isIdenticalTo | |||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | 10.1536/ihj.51.214 | |||||
| 出版者 | ||||||
| 出版者 | International Heart Journal Association | |||||
| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | Hypertrophic cardiomyopathy (HCM) is associated with gene mutations that encode sarcomeric proteins. However, the relationship between genotype and histopathologic fndings is unclear. We report on two autopsy cases with advanced HCM associated with deletion of lysine 183 mutation in the cardiac troponin I gene. One case, a 74-year-old female exhibited dilated cardiomyopathy-like features. Transmural scarring was diffuse and circumferential, involving the whole left ventricle, especially the ventricular septum which was replaced with extensive fbrosis and showed marked wall thinning. The other case, a 92-year-old male revealed typical HCM fndings. Patchy scars which corresponded to replacement fbrosis were found extending from the septum to the anterior wall. These two autopsy cases indicate the clinical heterogeneity of HCM even within the same disease-causing mutation and suggest that the degree and extent of fbrosis determine differences in the clinical manifestations of HCM. This is the frst autopsy report that demonstrates identical sarcomeric gene mutations causing different clinical manifestations and histologic fndings. The fndings suggest that additional genetic or environmental factors infuence the phenotypic expressions and clinical courses of HCM caused by genetic mutation of sarcomeric proteins. | |||||
| 権利 | ||||||
| 権利情報 | Copyright © 2010 by the International Heart Journal Association | |||||
| 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 | |||||
| 関連URI | ||||||
| 識別子タイプ | URI | |||||
| 関連識別子 | https://japanlinkcenter.org/JST.JSTAGE/ihj/51.214 | |||||
