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

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

Persistent ID (NDL): info:ndljp/pid/10371282

Material type: 博士論文

Author: Ozawa, Junichi

Publisher: 新潟大学

Publication date: 2017-03-23

Material Format: Digital

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Name of awarding university/degree: 新潟大学,博士（医学）

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Note (General)：: Background:In children with long QT syndrome (LQTS), risk factors for cardiac events have been reported, but age-, gender- and genotype-related differ...

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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