Rarity and phenotypic heterogeneity provide challenges in the diagnosis of Andersen-Tawil syndrome: Two cases presenting with ECGs mimicking catecholaminergic polymorphic ventricular tachycardia (CPVT)

Int J Cardiol. 2015 Dec 15:201:473-5. doi: 10.1016/j.ijcard.2015.07.069. Epub 2015 Aug 10.
No abstract available

Keywords: Andersen-Tawil Syndrome; Arrest; Arrhythmia; CPVT; KCNJ2; periodic paralysis.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Andersen Syndrome / diagnosis*
  • Andersen Syndrome / genetics
  • Andersen Syndrome / pathology
  • Child
  • Chromosome Segregation
  • Diagnosis, Differential
  • Electrocardiography / methods
  • Female
  • Genetic Heterogeneity
  • Humans
  • Mutation
  • Phenotype
  • Potassium Channels, Inwardly Rectifying / genetics
  • Potassium Channels, Inwardly Rectifying / metabolism
  • Rare Diseases
  • Tachycardia, Ventricular / diagnosis*
  • Tachycardia, Ventricular / genetics
  • Tachycardia, Ventricular / pathology

Substances

  • KCNJ2 protein, human
  • Potassium Channels, Inwardly Rectifying

Supplementary concepts

  • Polymorphic catecholergic ventricular tachycardia