Catecholaminergic polymorphic ventricular tachycardia

Johnson Francis, Vikram Sankar, Venugopal Krishnan Nair, Silvia G. Priori

Research output: Contribution to journalArticlepeer-review

Abstract

Catecholaminergic polymorphic ventricular tachycardia (VT) is a rare arrhythmogenic disease characterized by exercise- or stress-induced ventricular tachyarrhythmias, syncope, or sudden death, usually in the pediatric age group. Familial occurrence has been noted in about 30% of cases. Inheritance can be autosomal dominant or recessive, usually with high penetrance. The causative genes have been mapped to chromosome 1. Mutations of the cardiac ryanodine receptor gene (RyR2) have been identified in autosomal dominant pedigrees, while calsequestrin gene (CASQ2) mutations are seen in recessive cases. Ankyrin-B mutations may also be implicated in catecholaminergic polymorphic VT: mutations in this gene were previously linked to the long-QT 4 phenotype. Ventricular ectopy, bidirectional VT, and polymorphic VT occur in a predictable and progressive manner with increasing heart rate during exercise or isoproterenol infusion. Estimated mortality of untreated cases ranges from 30% to 50% before the age of 20-30 years according to family studies. Although beta-blocker therapy was considered to be effective in preventing clinical recurrence in the initial series, recent data show low efficacy. As there is a chance for sudden cardiac death if even a single dose of beta-blocker is missed, there is a trend toward implantation of defibrillators in more and more patients.

Original languageEnglish
Pages (from-to)550-554
Number of pages5
JournalHeart Rhythm
Volume2
Issue number5
DOIs
Publication statusPublished - May 2005

Keywords

  • Arrhythmia
  • Death, sudden
  • Genetics
  • Syncope
  • Tachycardia

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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