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

Intern Med. 2020 Jan 1;59(1):83-87. doi: 10.2169/internalmedicine.3430-19. Epub 2019 Sep 3.

Abstract

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.

Keywords: Brugada syndrome; E1784K; SCN5A; long QT syndrome; overlap syndrome; sodium channel blocker.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Anti-Arrhythmia Agents*
  • Brugada Syndrome / complications
  • Brugada Syndrome / diagnosis*
  • Brugada Syndrome / genetics
  • Brugada Syndrome / physiopathology
  • Electrocardiography
  • Humans
  • Lidocaine / analogs & derivatives*
  • Long QT Syndrome / complications
  • Long QT Syndrome / diagnosis*
  • Long QT Syndrome / genetics
  • Long QT Syndrome / physiopathology
  • Male
  • Mutation
  • NAV1.5 Voltage-Gated Sodium Channel / genetics
  • Phenotype
  • Ventricular Fibrillation / etiology
  • Ventricular Fibrillation / physiopathology*

Substances

  • Anti-Arrhythmia Agents
  • NAV1.5 Voltage-Gated Sodium Channel
  • SCN5A protein, human
  • Lidocaine
  • pilsicainide