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Catecholaminergic Polymorphic Ventricular

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Clinical Cardiogenetics

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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.

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Authors and Affiliations

  1. Cardiology Department, APHP, Hopital Bichat, Refering Centre for Cardiac Hereditary Diseases, Paris Sorbonne University, Paris, France

    Isabelle Denjoy & Antoine Leenhardt

  2. M3C-Necker, Hôpital Universitaire Necker Enfants Malades, Université Paris Descartes, Paris, France

    Isabelle Denjoy & Antoine Leenhardt

  3. Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Heart Centre, Amsterdam, The Netherlands

    Alice Maltret, Krystien V. Lieve & Christian van der Werf

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  4. Christian van der Werf
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Correspondence to Isabelle Denjoy .

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  1. Consultant Cardiologist at the OLVG Hospital, Amsterdam, The Netherlands

    Hubert F. Baars

  2. Utrecht University, Utrecht, The Netherlands

    Pieter A. F. M. Doevendans

  3. Amsterdam University Medical Center, Amsterdam, The Netherlands

    Arjan C. Houweling

  4. University Medical Center Utrecht, Utrecht, The Netherlands

    J. Peter van Tintelen

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Denjoy, I., Maltret, A., Lieve, K.V., van der Werf, C., Leenhardt, A. (2020). Catecholaminergic Polymorphic Ventricular. In: Baars, H.F., Doevendans, P.A.F.M., Houweling, A.C., van Tintelen, J.P. (eds) Clinical Cardiogenetics. Springer, Cham. https://doi.org/10.1007/978-3-030-45457-9_15

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