A Case of Long QT Syndrome with a De Novo Novel Nonsense Mutation（c.1490G>A, p.Trp497Ter）in the KCNH2 gene

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  • HIDAKA Reina
    Department of Medicine, Yamaguchi University School of Medicine
  • SUEHIRO Yutaka
    Department of Oncology & Laboratory Medicine, Yamaguchi University Graduate School of Medicine Division of Laboratory, Yamaguchi University Hospital
  • KODAMA Masaki
    Division of Laboratory, Yamaguchi University Hospital
  • FUKUDA Masakazu
    Division of Laboratory, Yamaguchi University Hospital Division of Cardiology, Department of Medicine and Clinical Science, Yamaguchi University Graduate School of Medicine
  • KUNIMUNE Yuki
    Division of Laboratory, Yamaguchi University Hospital
  • OKAYAMA Naoko
    Division of Laboratory, Yamaguchi University Hospital
  • NAKARAHA Yukiko
    Division of Laboratory, Yamaguchi University Hospital
  • NISHIOKA Mitsuaki
    Division of Laboratory, Yamaguchi University Hospital
  • KOBAYASHI Shigeki
    Division of Cardiology, Department of Medicine and Clinical Science, Yamaguchi University Graduate School of Medicine Department of Therapeutic Science for Heart Failure in the Elderly, Yamaguchi University School of Medicine
  • YANO Masafumi
    Division of Cardiology, Department of Medicine and Clinical Science, Yamaguchi University Graduate School of Medicine
  • YAMASAKI Takahiro
    Department of Oncology & Laboratory Medicine, Yamaguchi University Graduate School of Medicine Division of Laboratory, Yamaguchi University Hospital

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Other Title
  • KCNH2遺伝子にde novo新規ナンセンス変異（c.1490G>A, p.Trp497Ter）を認めたQT延長症候群の１症例
  • KCNH2 イデンシ ニ de novo シンキ ナンセンス ヘンイ(c.1490G>A, p.Trp497Ter)オ ミトメタ QT エンチョウ ショウコウグン ノ 1 ショウレイ

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Abstract

<p>Congenital long QT syndrome is a disorder in which the QT interval on electrocardiography is prolonged due to an abnormality in the genes encoding ion channels in cardiomyocytes, which sometimes results in fatal arrhythmias. We herein report a case of congenital long QT syndrome type 2（LQT2）with a de novo novel nonsense mutation in the KCNH2.</p><p>An asymptomatic 13-year-old female client was admitted to Yamaguchi University Hospital for further examination of QT prolongation that was found in a school physical examination. A catecholamine provocation test showed further prolongation of the QT interval. She has been followed up as an outpatient once a year for six years. In this time, there have been no symptoms. When she was 18 years of age, genetic testing was performed for her and her family. As a heterozygous nonsense mutation of KCNH2 c.1490G>A, p.Trp497Ter was found only in the patient, de novo mutation was confirmed. Furthermore, as the association between the variant and long QT syndrome has not been reported, it seemed to be a novel mutation. Although she has remained asymptomatic thus far, she should be followed up carefully because female patients with LQT2 have an increased risk of cardiac events after puberty.</p>

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