Dynamic Change in ST-Segment and Spontaneous Occurrence of Ventricular Fibrillation in Brugada Syndrome With a Novel Nonsense Mutation in the SCN5A Gene During Long-Term Follow-up
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- Kawamura Mihoko
- Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
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- Ozawa Tomoya
- Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
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- Yao Takenori
- Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
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- Ashihara Takashi
- Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
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- Sugimoto Yoshihisa
- Department of Medical Informatics and Biomedical Engineering, Shiga University of Medical Science
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- Yagi Takafumi
- Division of Cardiology, Department of Internal Medicine, The Second Okamoto General Hospital
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- Itoh Hideki
- Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
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- Ito Makoto
- Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
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- Makiyama Takeru
- Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine
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- Horie Minoru
- Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
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A 67-year-old male underwent genetic testing under the diagnosis of Brugada syndrome because of recurrent ventricular fibrillation with coincident ST-segment elevation in either right precordial, inferior leads or both since the age of 55 years. Screening of gene mutations using denaturing high-performance liquid chromatography (DHPLC) and direct sequencing identified a novel nonsense mutation (R179X) of SCN5A in a heterozygous manner. The functional assay for the identified mutation, using a whole-cell patch clamp in the heterologous expression system, revealed that the nonsense mutation, located in the second transmembrane segment of the first domain (DI-S2) of the α-subunit, failed to synthesize the complete structure of the cardiac sodium channel, thus causing the non-functional channel. Coding effects by the gene mutation was altered during the 12-year follow-up, which might affect the clinical features of the patient through the ion channel density in the ventricle, dynamics of repolarization abnormality and conduction disturbance. (Circ J 2009; 73: 584 - 588)<br>
収録刊行物
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- Circulation Journal
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Circulation Journal 73 (3), 584-588, 2009
一般社団法人 日本循環器学会
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詳細情報 詳細情報について
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- CRID
- 1390001205102941824
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- NII論文ID
- 110007126713
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- NII書誌ID
- AA11591968
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- ISSN
- 13474820
- 13469843
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- 本文言語コード
- en
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- データソース種別
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- JaLC
- Crossref
- CiNii Articles
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- 抄録ライセンスフラグ
- 使用不可