| Item type |
文献 / Documents(1) |
| 公開日 |
2019-12-06 |
| アクセス権 |
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|
アクセス権 |
open access |
| 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 |
| 出版社版DOI |
|
|
|
関連識別子 |
https://doi.org/10.1161/JAHA.117.006210 |
|
|
関連名称 |
10.1161/JAHA.117.006210 |
| 出版タイプ |
|
|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| タイトル |
|
|
タイトル |
A Wide and Specific Spectrum of Genetic Variants and Genotype–Phenotype Correlations Revealed by Next‐Generation Sequencing in Patients with Left Ventricular Noncompaction |
| タイトル別表記 |
|
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その他のタイトル |
Genetic Study in Left Ventricular Noncompaction |
| 著者 |
Wang, Ce
ハタ, ユキコ
ヒロノ, ケイイチ
タカサキ, アサミ
ワタナベ オザワ, サヤカ
ナカオカ, ヒデユキ
サイトウ, カズヨシ
ミヤオ, ナリアキ
オカベ, マコ
イブキ, ケイジロウ
ニシダ, ナオキ
オリガサ, ヒデキ
Yu, Xianyi
Bowles, Neil E.
イチダ, フキコ
早渕, 康信
|
| 抄録 |
|
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内容記述 |
Background—Left ventricular noncompaction (LVNC) has since been classified as a primary genetic cardiomyopathy, but the genetic basis is not fully evaluated. The aim of the present study was to identify the genetic spectrum using next-generation sequencing and to evaluate genotype–phenotype correlations in LVNC patients.
Methods and Results—Using next-generation sequencing, we targeted and sequenced 73 genes related to cardiomyopathy in 102 unrelated LVNC patients. We identified 43 pathogenic variants in 16 genes in 39 patients (38%); 28 were novel variants. Sarcomere gene variants accounted for 63%, and variants in genes associated with channelopathies accounted for 12%. MYH7 and TAZ pathogenic variants were the most common, and rare variant collapsing analysis showed variants in these genes contributed to the risk of LVNC, although patients carrying MYH7 and TAZ pathogenic variants displayed different phenotypes. Patients with pathogenic variants had early age of onset and more severely decreased left ventricular ejection fractions. Survival analysis showed poorer prognosis in patients with pathogenic variants, especially those with multiple variants: All died before their first birthdays. Adverse events were noted in 17 patients, including 13 deaths, 3 heart transplants, and 1 implantable cardioverter-defibrillator insertion. Congestive heart failure at diagnosis and pathogenic variants were independent risk factors for these adverse events.
Conclusions—Next-generation sequencing revealed a wide spectrum of genetic variations and a high incidence of pathogenic variants in LVNC patients. These pathogenic variants were independent risk factors for adverse events. Patients harboring pathogenic variants showed poor prognosis and should be followed closely. |
| キーワード |
|
|
主題 |
genetics |
| キーワード |
|
|
主題 |
noncompaction cardiomyopathy |
| キーワード |
|
|
主題 |
prognosis |
| 書誌情報 |
en : Journal of the American Heart Association
巻 6,
号 9,
p. e006210,
発行日 2017-08-30
|
| 収録物ID |
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|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
20479980 |
| 出版者 |
|
|
出版者 |
The American Heart Association |
| 出版者 |
|
|
出版者 |
Wiley |
| 権利情報 |
|
|
権利情報 |
© 2017 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made. |
| EID |
|
|
識別子 |
336890 |
| 言語 |
|
|
言語 |
eng |
jaha_6_9_e006210.pdf (1.22 MB)
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