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

Utkarsh Kohli, Zaid Aziz, Andrew D. Beaser, Hemal M. Nayak

Research output: Contribution to journalArticlepeer-review

16 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1146-1154
Number of pages9
JournalPACE - Pacing and Clinical Electrophysiology
Volume42
Issue number8
DOIs
StatePublished - Aug 2019
Externally publishedYes

Keywords

  • RYR2 exon 3 deletion
  • catecholaminergic polymorphic ventricular tachycardia (CPVT)
  • drug refractory
  • malignant syncope

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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