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

Martin J LaPage; Mark W Russell; David J Bradley; Macdonald Dick 2nd

doi:10.1016/j.jpeds.2012.04.013

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

J Pediatr. 2012 Aug;161(2):362-4. doi: 10.1016/j.jpeds.2012.04.013. Epub 2012 May 19.

Authors

Martin J LaPage¹, Mark W Russell, David J Bradley, Macdonald Dick 2nd

Affiliation

¹ Division of Pediatric Cardiology, Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA. [email protected]

PMID: 22608700
DOI: 10.1016/j.jpeds.2012.04.013

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.

Publication types

Case Reports

MeSH terms

Adolescent
Anxiety / complications
Female
Humans
Mutation, Missense*
Phenotype*
Ryanodine Receptor Calcium Release Channel / genetics*
Seizures / complications
Tachycardia, Ventricular / complications
Tachycardia, Ventricular / genetics*
Tachycardia, Ventricular / psychology

Substances

Ryanodine Receptor Calcium Release Channel

Supplementary concepts

Polymorphic catecholergic ventricular tachycardia