Novel ryanodine receptor 2 mutation associated with a severe phenotype of catecholaminergic polymorphic ventricular tachycardia.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 22608700.
- Also identified by DOI 10.1016/j.jpeds.2012.04.013.
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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.
Medical subject headings
- Mutation, Missense
- Phenotype
- Ryanodine Receptor Calcium Release Channel
- Tachycardia, Ventricular