A large deletion in RYR2 exon 3 is associated with nadolol and flecainide refractory catecholaminergic polymorphic ventricular tachycardia

Pacing Clin Electrophysiol. 2019 Aug;42(8):1146-1154. doi: 10.1111/pace.13668. Epub 2019 Apr 17.

Abstract

We report a 17-year-old boy with a large RYR2 exon 3 deletion who has a severe catecholaminergic polymorphic ventricular tachycardia (CPVT) phenotype characterized by refractoriness to both nadolol and flecainide which has previously not been reported in this subgroup of CPVT patients. Treatment options in a patient like ours are therefore limited and sympathectomy and implantable cardioverter-defibrillator implantation should be considered early in the treatment course as was done in this patient. In contrast to other CPVT patients who do not usually have structural cardiac abnormalities, these patients are at a high risk of developing left ventricular noncompaction or dilated cardiomyopathy and therefore might benefit from cardiac imaging at regular intervals.

Keywords: RYR2 exon 3 deletion; catecholaminergic polymorphic ventricular tachycardia (CPVT); drug refractory; malignant syncope.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Anti-Arrhythmia Agents / therapeutic use*
  • Exons*
  • Flecainide / therapeutic use*
  • Gene Deletion*
  • Humans
  • Male
  • Nadolol / therapeutic use*
  • Ryanodine Receptor Calcium Release Channel / genetics*
  • Tachycardia, Ventricular / drug therapy*
  • Tachycardia, Ventricular / genetics*

Substances

  • Anti-Arrhythmia Agents
  • RyR2 protein, human
  • Ryanodine Receptor Calcium Release Channel
  • Nadolol
  • Flecainide

Supplementary concepts

  • Polymorphic catecholergic ventricular tachycardia