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Revista Colombiana de Cardiología

Print version ISSN 0120-5633

Abstract

VELASCO, Alejandro et al. Catecholaminergic polymorphic ventricular tachycardia. Rev. Colom. Cardiol. [online]. 2009, vol.16, n.2, pp.71-75. ISSN 0120-5633.

Catecholaminergic Polymorphic Ventricular Tachycardia is an inherited heart rhythm disorder recently discovered by genetic and electrophysiological diagnostic advancements. It consists of an inherited disorder characterized by the induction of bi-directional ventricular tachycardia in the presence of catecholamines, without a structural cardiac abnormality. Mutations in the Ryanodine receptor gene RyR2, have been linked with an autosomic dominant form, while mutations in the Calsequestrin gene CASQ 2 have showed correlation with an autosomic recessive form. The average age of onset is between 7 and 9 years of age, and clinical symptoms vary from syncope to sudden cardiac death. The diagnosis is confirmed by inducting ventricular tachycardia through a stress test or during an infusion of sympathicomimetic drugs like Isoproterenol, aided by the identification of mutations in the RyR2 and CASQ2 genes through gene analysis. Implantable cardiodefibrillator devices remain a valid therapeutic option in many cases due to the fact that antiarrhythmic drugs have not shown efficacy. Sympathetic cardiac denervation can be useful in some special cases. Catecholaminergic Polymorphic Ventricular Tachycardia opens a wide field for the development of new antiarrhythmic drugs and the use of gene therapy for cardiac rhythm disorders.

Keywords : polymorphic ventricular tachycardia; sudden cardiac death; genetic.

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