[Cardiac sinus node dysfunction due to a new mutation of the SCN5A gene]

Arch Pediatr. 2012 Aug;19(8):837-41. doi: 10.1016/j.arcped.2012.04.017. Epub 2012 Jul 12.
[Article in French]

Abstract

A 10-year-old child was hospitalized for bradycardia during a viral infection with chikungunya. His history showed unexplored episodes of bradycardia. Cardiologic explorations revealed cardiac sinus node dysfunction (SD). Mutational screening of the SCN5A gene showed that this case was a compound heterozygote for p.Ala735Val and p.Asp1792Asn missense mutants. Five years later, the child underwent a pacemaker insertion after an electrophysiological study performed during an atrial flutter access.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Bradycardia / etiology
  • Child
  • Heterozygote
  • Humans
  • Male
  • Mutation, Missense*
  • NAV1.5 Voltage-Gated Sodium Channel / genetics*
  • Sick Sinus Syndrome / diagnosis
  • Sick Sinus Syndrome / genetics*

Substances

  • NAV1.5 Voltage-Gated Sodium Channel
  • SCN5A protein, human