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Advances in the diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia

Published online by Cambridge University Press:  13 January 2017

Thomas M. Roston ,
Taylor C. Cunningham  and
Shubhayan Sanatani
Thomas M. Roston
Affiliation:
Department of Pediatrics, Children’s Heart Centre, Division of Cardiology, British Columbia Children’s Hospital, Vancouver, British Columbia, Canada Department of Medicine, University of Alberta, Edmonton, Alberta, Canada
Taylor C. Cunningham
Affiliation:
Department of Pediatrics, Children’s Heart Centre, Division of Cardiology, British Columbia Children’s Hospital, Vancouver, British Columbia, Canada
Shubhayan Sanatani*
Affiliation:
Department of Pediatrics, Children’s Heart Centre, Division of Cardiology, British Columbia Children’s Hospital, Vancouver, British Columbia, Canada
*
Correspondence to: Dr S. Sanatani, Division Head, Children’s Heart Centre, Division of Cardiology, British Columbia Children’s Hospital, 4480 Oak Street 1F9, Vancouver, British Columbia, Canada V6H 3V4. Tel: +604 875 3619; Fax: +604 875 3463; E-mail: [email protected]
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Abstract

Since the sentinel description of exercise-triggered ventricular arrhythmias in 21 children, our recognition and understanding of catecholaminergic polymorphic ventricular tachycardia has improved substantially. A variety of treatments are now available, but reaching a diagnosis before cardiac arrest remains a challenge. Most cases are related to variants in the gene encoding for ryanodine receptor-2 (RyR2), which mediates calcium-induced calcium release. Up to half of cases remain genetically elusive. The condition is presently incurable, but one basic intervention, the universal administration of β-blockers, has improved survival. In the past, implantable cardioverter-defibrillators (ICDs) were frequently implanted, especially in those with a history of cardiac arrest. Treatment limitations include under-dosing and poor compliance with β-blockers, and potentially lethal ICD-related electrical storm. Newer therapies include flecainide and sympathetic ganglionectomy. Limited data have suggested that genotype may predict phenotype in catecholaminergic polymorphic ventricular tachycardia, including a higher risk of life-threatening cardiac events in subjects with variants in the C-terminus of ryanodine receptor-2 (RyR2). At present, international efforts are underway to better understand this condition through large prospective registries. The recent publication of gene therapy in an animal model of the recessive form of the disease highlights the importance of improving our understanding of the genetic underpinnings of the disease.

Keywords

Catecholaminergic polymorphic ventricular tachycardiasudden unexpected deathcalcium channelgeneticselectrocardiography
Type
Original Articles
Information
Cardiology in the Young , Volume 27 , Supplement S1: Sudden Cardiac Arrest in the Young: A Contemporary Perspective , January 2017 , pp. S49 - S56
Copyright
© Cambridge University Press 2017 

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