Novel Ryanodine Receptor 2 Mutation Associated with a Severe Phenotype of Catecholaminergic Polymorphic Ventricular Tachycardia

An adolescent girl with a history of anxiety associated seizure-like episodes was ultimately diagnosed with catecholaminergic polymorphic ventricular tachycardia. She tested positive for a novel mutation of the ryanodine receptor. The report underscores how genetic arrhythmia syndromes may be mistak...

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Bibliographic Details
Published in:The Journal of pediatrics 2012-08, Vol.161 (2), p.362-364
Main Authors: LaPage, Martin J., MD, Russell, Mark W., MD, Bradley, David J., MD, Dick, Macdonald, MD
Format: Article
Language:English
Subjects:
Adolescent
adolescents
anxiety
Anxiety - complications
arrhythmia
Biological and medical sciences
Cardiac dysrhythmias
Cardiology. Vascular system
Female
General aspects
girls
Heart
Humans
Medical sciences
mutation
Mutation, Missense
nervous system diseases
Pediatrics
Phenotype
Ryanodine Receptor Calcium Release Channel - genetics
Seizures - complications
Tachycardia, Ventricular - complications
Tachycardia, Ventricular - genetics
Tachycardia, Ventricular - psychology
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Description
Summary:An adolescent girl with a history of anxiety associated seizure-like episodes was ultimately diagnosed with catecholaminergic polymorphic ventricular tachycardia. She tested positive for a novel mutation of the ryanodine receptor. The report underscores how genetic arrhythmia syndromes may be mistaken for neurologic disorders.
ISSN:0022-3476
1097-6833
DOI:10.1016/j.jpeds.2012.04.013