Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmia syndrome or so-called ‘channelopathy’. CPVT is characterised by the occurrence of adrenergic mediated polymorphic ventricular tachyarrhythmias (figure 1).1 The prevalence of CPVT in the general population is unknown, but has been estimated at 1 in 10 000. Although a rare disease, recognition of CPVT is important because of its high mortality rate of up to 50% in severely affected untreated individuals up to the age of 20 years.1 Accordingly, CPVT probably plays a significant role in autopsy negative, sudden unexplained death of young individuals,^w1 and sudden infant death syndrome (ie, sudden death of an infant under 1 year of age that remains unexplained after a death scene and medicolegal investigation, including a complete autopsy and clinical history review).2

For the last 15 years, significant progress has been made in our understanding of genetic, pathophysiological, and clinical aspects of CPVT. The aim of this article is to offer a perspective on molecular genetics, disease pathogenesis, clinical and genetic diagnosis, therapeutic strategies, and prognosis in CPVT.

Genetic background

The familial nature of CPVT was recognised in 1960 by Berg, who described three sisters with Adams–Stokes syndrome and polymorphic ventricular arrhythmias (VA) in the absence of organic heart disease, one of whom died suddenly.^w2 This hypothesis became even more probable when Coumel and co-workers from Paris published their two reports in 1978^w3 and 1995,1 which provided the basis for acknowledging CPVT as a distinct disease entity.

In 1999 Swan …