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Pathologies of Calcium Channels pp 601–614Cite as

RyR2 in Cardiac Disorders

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Abstract

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmia syndrome characterized by the occurrence of adrenergically induced polymorphic ventricular arrhythmias. Mutations in the cardiac ryanodine receptor (RYR2) underlie the majority of CPVT cases and show an autosomal dominant inheritance pattern. Mutations in RYR2 and other genes involved in CPVT cause spontaneous diastolic calcium release from the sarcoplasmatic reticulum (SR), which eventually lead to triggered arrhythmias. CPVT is usually diagnosed by use of exercise testing. β-blockers are the mainstay of drug therapy in CPVT, whereas flecainide and left cardiac sympathetic denervation can be added or performed in patients with significant ventricular arrhythmias or arrhythmic events on β-blocker therapy.

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Authors and Affiliations

  1. Department of Clinical and Experimental Cardiology, Academic Medical Centre, Amsterdam, The Netherlands

    Ineke Nederend, Christian van der Werf & Arthur A. M. Wilde

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  1. Ineke Nederend
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  2. Christian van der Werf
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  3. Arthur A. M. Wilde
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Correspondence to Arthur A. M. Wilde .

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Editors and Affiliations

  1. Hotchkiss Brain Institute, Department of Physiology and Pharmacology, University of Calgary, Calgary, Canada

    Norbert Weiss

  2. Department of Neurophysiology and Pharmacology, Medical University Vienna, Vienna, Austria

    Alexandra Koschak

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Nederend, I., van der Werf, C., M. Wilde, A.A. (2014). RyR2 in Cardiac Disorders. In: Weiss, N., Koschak, A. (eds) Pathologies of Calcium Channels. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-40282-1_29

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