Novel pore mutation in SCN5A manifests as a spectrum of phenotypes ranging from atrial flutter, conduction disease, and Brugada syndrome to sudden cardiac death Academic Article uri icon

Overview

MeSH Major

  • Atrial Flutter
  • Bundle-Branch Block
  • Heart Conduction System
  • Sodium Channels
  • Ventricular Fibrillation

abstract

  • We describe the functional characterization of a novel SCN5A pore mutation, R376H, with variable clinical expression in the same family. Differentiating between electrophysiologic entities (Brugada syndrome-isolated cardiac conduction defect) is more challenging. Recognition of factors modifying the clinical presentation may be important for clinical decision making.

publication date

  • November 2004

Research

keywords

  • Academic Article

Identity

Language

  • eng

Digital Object Identifier (DOI)

  • 10.1016/j.hrthm.2004.07.001

PubMed ID

  • 15851228

Additional Document Info

start page

  • 610

end page

  • 5

volume

  • 1

number

  • 5