Pediatric cohort with long QT syndrome : KCNH2 mutation carriers present late onset but severe symptoms.

• Material Type: 博士論文
• Title: Pediatric cohort with long QT syndrome : KCNH2 mutation carriers present late onset but severe symptoms.
• Author/Editor: Ozawa, Junichi
• Publication, Distribution, etc.: 新潟大学
• Publication Date: 2017-03-23
• Publication Date (W3CDTF): 2017-03-23
• Alternative Title: Pediatric cohort with long QT syndrome : KCNH2 mutation carriers present late onset but severe symptoms.; 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
• Degree grantor/type: 新潟大学
• Date Granted: 2017-03-23
• Date Granted (W3CDTF): 2017-03-23
• Dissertation Number: 甲第4276号
• Degree Type: 博士（医学）
• Conferring No. (Dissertation): 甲第4276号
• Text Language Code: eng
• Subject Heading: Child; Genetics; Long QT syndrome; Sex hormone; Torsade de pointes
• Note (General): 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; 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; Circulation Journal 2016; 80(3): 696–702; 新大院博（医）甲第754号; 元資料の権利情報 : Copyright © 2016 THE JAPANESE CIRCULATION SOCIETY; 元資料の権利情報 : 一般社団法人日本循環器学会
• DOI: info:doi/10.1253/circj.CJ-15-0933; https://doi.org/info:doi/10.1253/circj.CJ-15-0933
• Persistent ID (NDL): info:ndljp/pid/10371282; https://dl.ndl.go.jp/pid/10371282
• Collection: 障害者向け資料
• Collection (Materials For Handicapped People:1): テキストデータ
• Collection (particular): 国立国会図書館デジタルコレクション > デジタル化資料 > 博士論文; https://dl.ndl.go.jp/collections/A00014
• Acquisition Basis: 博士論文（自動収集）
• Date Accepted (W3CDTF): 2017-07-03T04:10:06+09:00
• Date Created (W3CDTF): 2019-08-05
• Format (IMT): application/pdf
• Access Restrictions: 国立国会図書館内限定公開
• Service for the Digitized Contents Transmission Service: 図書館・個人送信対象外
• Availability of remote photoduplication service: 可
• Periodical Title (URI): http://hdl.handle.net/10191/47626
• Data Provider (Database): 国立国会図書館 : 国立国会図書館デジタルコレクション; https://dl.ndl.go.jp