Catecholaminergic Polymorphic Ventricular

Isabelle Denjoy, Alice Maltret, Krystien V. Lieve, Christian van der Werf, Antoine Leenhardt

Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review

Abstract

CPVT is a rare arrhythmogenic disorder characterized by adrenergic-induced bidirectional and polymorphic ventricular tachycardia (VT). Key features include polymorphic VT reproducibly induced during exercise test, isoproterenol infusion or emotion and exercise. CPVT occurs in children and adolescents and causes syncope and sudden cardiac death at a young age, in absence of structural heart disease. The resting electrocardiogram (ECG), including the QTc interval, is normal. There is a clear correlation between the age of the first syncope and the severity of the disease, with the worst prognosis in case of early occurrence. Mutations in different genes have been related to the disease: the cardiac ryanodine receptor gene (RyR2) and the calsequestrin gene (CASQ2) most frequently and more recently in the calmodulin genes (CALM) and the triadin gene (TRDN). Beta-blockers without intrinsic sympathomimetic activity are clinically effective in reducing syncope. However, arrhythmic event rate on beta-blocker therapy remains significant, and combination with pharmacological (flecainide) and non-pharmacological (sympathectomy, AICD) therapies should be discussed. Given the high lethality rate in the absence of treatment, family screening is mandatory.
Original languageEnglish
Title of host publicationClinical Cardiogenetics: Third Edition
PublisherSpringer International Publishing
Pages247-257
ISBN (Electronic)9783030454579
ISBN (Print)9783030454562
DOIs
Publication statusPublished - 1 Jan 2020

Publication series

NameClinical Cardiogenetics: Third Edition

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