Cardiac arrest in a mother and daughter and the identification of a novel RYR2 variant, predisposing to low penetrant catecholaminergic polymorphic ventricular tachycardia in a four‐generation Canadian family

Cardiac arrest in a mother and daughter and the identification of a novel RYR2 variant, predisposing to low penetrant catecholaminergic polymorphic ventricular tachycardia in a four‐generation Canadian family

Abstract Background Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited arrhythmia syndrome characterized by adrenergically driven ventricular arrhythmia predominantly caused by pathogenic variants in the cardiac ryanodine receptor (RyR2). We describe a novel variant ass...

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Bibliographic Details
Main Authors: Matthew Tung, Filip Van Petegem, Samantha Lauson, Ashley Collier, Kathy Hodgkinson, Bridget Fernandez, Sean Connors, Rick Leather, Shubhayan Sanatani, Laura Arbour
Format: Article
Language:English
Published: Wiley 2020-04-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
catecholaminergic polymorphic ventricular tachycardia
crystallography
RYR2
variable expression
Online Access:https://doi.org/10.1002/mgg3.1151

Internet

https://doi.org/10.1002/mgg3.1151

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