A case of catecholaminergic polymorphic ventricular tachycardia caused by two calsequestrin 2 mutations

Sam De La Fuente, Irene M. Van Langen, Alex V. Postma, Henni Bikker, Albert Meijer

Research output: Contribution to journalArticleAcademicpeer-review

33 Citations (Scopus)

Abstract

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an uncommon heritable disease presenting with syncope or sudden cardiac death. Two genes involved in calcium homeostasis, the ryanodine receptor gene and the calsequestrin 2 (CASQ2) gene, have been implicated in this disease. We describe a young man presenting with exercise-induced syncope, clinically diagnosed as CPVT. Genetic analysis revealed two mutations, p.Y55C (C.164A>G) and p.P308L (c.923C>T), in the CASQ2 gene. Subsequent familial analysis indicates a compound heterozygous form of inheritance. (PACE 2008; 31:916-919). © 2008, The Authors. Journal compilation © 2008, Blackwell Publishing, Inc.
Original languageEnglish
Pages (from-to)916-919
Number of pages4
JournalPace-Pacing and Clinical Electrophysiology
Volume31
Issue number7
DOIs
Publication statusPublished - Jul-2008

Keywords

  • Calsequestrin 2
  • Catecholaminergic polymorphic ventricular tachycardia
  • Clinical
  • Electrophysiology
  • ryanodine receptor 2
  • adult
  • anamnesis
  • article
  • calsequestrin 2 gene
  • case report
  • catecholaminergic polymorphic ventricular tachycardia
  • clinical feature
  • gene
  • gene mutation
  • genetic analysis
  • heart rate
  • human
  • inheritance
  • male
  • faintness

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