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Heterozygous mutations were observed in 3 major responsible genes:KCNQ1in271,KCNH2in 192, andSCN5Ain 33 patients. LQTS-associated events were classified into 3 categories: (1) syncope (n=133); (2) repetitive torsade de pointes (TdP, n=3); and (3) cardiopulmonary arrest (CPA, n=4). The risk of cardiac events was significantly lower in LQT1 girls than boys≤12 years (HR, 0.55), whereas LQT2 female patients ≥13 years had the higher risk of cardiac events than male patients (HR, 4.60). Patients in the repetitive TdP or CPA group included 1 LQT1 female patient, 1 LQT2 male patient, and 5 LQT2 female patients. All LQT2 patients in these groups had TdP repeatedly immediately after the antecedent event. 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Pediatric cohort with long QT syndrome : KCNH2 mutation carriers present late onset but severe symptoms.
http://hdl.handle.net/10191/47626
http://hdl.handle.net/10191/47626f0b4bed5-2bd8-45ff-8d26-6cfded5027c0
名前 / ファイル | ライセンス | アクション |
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本文 (893.7 kB)
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要旨 (193.4 kB)
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Item type | 学位論文 / Thesis or Dissertation(1) | |||||
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公開日 | 2018-09-11 | |||||
タイトル | ||||||
タイトル | Pediatric cohort with long QT syndrome : KCNH2 mutation carriers present late onset but severe symptoms. | |||||
タイトル | ||||||
言語 | en | |||||
タイトル | Pediatric cohort with long QT syndrome : KCNH2 mutation carriers present late onset but severe symptoms. | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Child | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Genetics | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Long QT syndrome | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Sex hormone | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Torsade de pointes | |||||
資源タイプ | ||||||
資源 | http://purl.org/coar/resource_type/c_46ec | |||||
タイプ | thesis | |||||
その他のタイトル | ||||||
その他のタイトル | 小児QT延長症候群 : KCNH2変異保持者の発症は遅いが重症である | |||||
著者 |
Ozawa, Junichi
× Ozawa, Junichi |
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著者別名 | ||||||
識別子 | 51005 | |||||
識別子Scheme | WEKO | |||||
姓名 | 小澤, 淳一 | |||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Background:In children with long QT syndrome (LQTS), risk factors for cardiac events have been reported, but age-, gender- and genotype-related differences in prognosis remain unknown in Asian countries.Methods and Results:The study examined clinical prognosis at age between 1 and 20 years in 496 LQTS patients who were genotyped as either of LQT1–3 (male, n=206). Heterozygous mutations were observed in 3 major responsible genes:KCNQ1in271,KCNH2in 192, andSCN5Ain 33 patients. LQTS-associated events were classified into 3 categories: (1) syncope (n=133); (2) repetitive torsade de pointes (TdP, n=3); and (3) cardiopulmonary arrest (CPA, n=4). The risk of cardiac events was significantly lower in LQT1 girls than boys≤12 years (HR, 0.55), whereas LQT2 female patients ≥13 years had the higher risk of cardiac events than male patients (HR, 4.60). Patients in the repetitive TdP or CPA group included 1 LQT1 female patient, 1 LQT2 male patient, and 5 LQT2 female patients. All LQT2 patients in these groups had TdP repeatedly immediately after the antecedent event. In addition, all 5 female LQT2 patients in these groups had the event after or near puberty.Conclusions:Female LQT2 children might have repeated TdP shortly after prior events, especially after puberty | |||||
内容記述 | ||||||
内容記述タイプ | Other | |||||
内容記述 | 学位の種類: 博士(医学). 報告番号: 甲第4276号. 学位記番号: 新大院博(医)甲第.754号. 学位授与年月日: 平成29年3月23日 | |||||
内容記述 | ||||||
内容記述タイプ | Other | |||||
内容記述 | Circulation Journal 2016; 80(3): 696–702 | |||||
書誌情報 | 発行日 2017-03-23 | |||||
出版者 | ||||||
出版者 | 新潟大学 | |||||
DOI | ||||||
識別子タイプ | DOI | |||||
関連識別子 | info:doi/10.1253/circj.CJ-15-0933 | |||||
権利 | ||||||
権利情報 | Copyright © 2016 THE JAPANESE CIRCULATION SOCIETY | |||||
権利 | ||||||
権利情報 | 一般社団法人日本循環器学会 | |||||
著者版フラグ | ||||||
値 | ETD | |||||
学位名 | ||||||
学位名 | 博士(医学) | |||||
学位授与機関 | ||||||
学位授与機関名 | 新潟大学 | |||||
学位授与年月日 | ||||||
学位授与年月日 | 2017-03-23 | |||||
学位授与番号 | ||||||
学位授与番号 | 13101甲第4276号 | |||||
学位記番号 | ||||||
内容記述タイプ | Other | |||||
内容記述 | 新大院博(医)甲第754号 |