Novel ryanodine receptor 2 mutation associated with a severe phenotype of catecholaminergic polymorphic ventricular tachycardia.

J Pediatr

Division of Pediatric Cardiology, Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA.

Published: August 2012

AI Article Synopsis

  • An adolescent girl experienced anxiety-related seizure-like episodes and was diagnosed with catecholaminergic polymorphic ventricular tachycardia.
  • She was found to have a new mutation in the ryanodine receptor gene.
  • This case highlights the importance of distinguishing genetic arrhythmia syndromes from neurological disorders.

Article Abstract

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.

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Source
http://dx.doi.org/10.1016/j.jpeds.2012.04.013DOI Listing

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