Pilsicainide Administration Unmasks a Phenotype of Brugada Syndrome in a Patient with Overlap Syndrome due to the E1784K SCN5A Mutation

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  • Hasebe Hideyuki
    Division of Arrhythmology, Shizuoka Saiseikai General Hospital, Japan Cardiovascular Division, Faculty of Medicine, University of Tsukuba, Japan
  • Yokoya Tomoyo
    Division of Arrhythmology, Shizuoka Saiseikai General Hospital, Japan
  • Murakoshi Nobuyuki
    Cardiovascular Division, Faculty of Medicine, University of Tsukuba, Japan
  • Kurebayashi Nobutake
    Division of Cardiology, Chutoen General Medical Center, Japan

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Description

<p>Mutations in the cardiac sodium channel SCN5A can cause phenotypic overlap syndrome of long QT syndrome and Brugada syndrome. However, Brugada-type ST elevations in patients with overlap syndrome are often concealed, which creates a diagnostic challenge. A 38-year-old man was admitted due to ventricular fibrillation (VF). The 12-lead electrocardiogram showed a prolonged QT interval and saddleback-type ST elevation. Pilsicainide administration induced coved-type ST elevation and VF triggered by a single premature ventricular contraction. A genetic analysis showed an SCN5A c.5350G>A p.E1784K mutation. The present case suggests the importance of a drug administration test being performed in the clinical management of overlap syndrome. </p>

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  • Internal Medicine

    Internal Medicine 59 (1), 83-87, 2020-01-01

    The Japanese Society of Internal Medicine

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