• Internal medicine · Jan 2020

    Case Reports

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

    • Hideyuki Hasebe, Tomoyo Yokoya, Nobuyuki Murakoshi, and Nobutake Kurebayashi.
    • Division of Arrhythmology, Shizuoka Saiseikai General Hospital, Japan.
    • Intern. Med. 2020 Jan 1; 59 (1): 83-87.

    AbstractMutations 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.

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