A Novel SCN5A Mutation Demonstrating a Variety of Clinical Phenotypes in Familial Sick Sinus Syndrome
スポンサーリンク
概要
- 論文の詳細を見る
Mutations in SCN5A have been reported to cause several types of hereditary arrhythmias (overlap syndrome). We herein report two patients with the overlapping phenotypes of juvenile sick sinus syndrome (SSS) and Brugada syndrome (BrS). The proband was a man who was in his twenties and had been diagnosed with both SSS and ventricular tachycardia (VT). A pilsicainide challenge test revealed a coved type ST segment elevation. His teenage brother also suffered from SSS, but no VT had been documented. A pilsicainide challenge failed to produce a Brugada-type ST elevation, but there was a marked prolongation of the His-ventricle interval. Their electrocardiograms at rest did not display any Brugada-type ST elevations. We identified a novel SCN5A (F1775Lfs*15) mutation in both patients, even though there was a phenotype discrepancy.
著者
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KONDO Hirokazu
Department of Cardiovascular Medicine, Graduate School of Medicine, Kyoto University
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Izumi Chisato
Department Of Cardiology Tenri Hospital
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Motooka Makoto
Department of Cardiology, Tenri Hospital
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Miyake Makoto
Department Of Cardiology Tenri Hospital
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Kaitani Kazuaki
Department Of Cardiology Tenri Hospital
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Tamaki Yodo
Department Of Cardiology Tenri Hospital
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HANAZAWA Koji
Department of Cardiology, Tenri Hospital
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Nakagawa Yoshihisa
Department Of Cardiology Kokura Memorial Hospital
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Makiyama Takeru
Department Of Cardiology Hyogo Prefectural Amagasaki Hospital
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Horie Minoru
Department Of Cardiac Physiology National Cardiovascular Center Research Institute
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Nakajima Seiko
Department Of Cardiology Tenri Hospital
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Tamura Toshihiro
Department Of Cardiology Kyoto University School Of Medicine
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Hayama Yukiko
Department Of Cardiology Tenri Hospital
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Izumi Chisato
Department of Cardiology, Tenri Hospital, Japan
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Amano Masashi
Department of Cardiology, Tenri Hospital, Japan
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Onishi Naoaki
Department of Cardiology, Tenri Hospital, Japan
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Motooka Makoto
Department of Cardiology, Tenri Hospital, Japan
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Nakagawa Yoshihisa
Department of Cardiology, Tenri Hospital, Japan
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Tamaki Yodo
Department of Cardiology, Tenri Hospital, Japan
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Miyake Makoto
Department of Cardiology, Tenri Hospital, Japan
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Kondo Hirokazu
Department of Cardiology, Tenri Hospital, Japan
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Makiyama Takeru
Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Japan
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Kaitani Kazuaki
Department of Cardiology, Tenri Hospital, Japan
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