title: A novel mutation in the RYR2 gene leading to catecholaminergic polymorphic ventricular tachycardia and paroxysmal atrial fibrillation: dose-dependent arrhythmia-event suppression by β-blocker therapy.
abstract: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a genetic condition that presents with exercise-induced polymorphic arrhythmias. We describe a case report of a 25-year-old woman who had a cardiac arrest due to ventricular fibrillation. Genetic analysis revealed a novel missense mutation in exon 90 of the ryanodine receptor (RyR2) gene resulting in substitution of arginine for serine at residue 4153 (S4153R). The patient received an implantable cardioverter-defibrillator and low-dose β-blocker therapy. She had recurrent polymorphic ventricular arrhythmias treated with appropriate cardioverter-defibrillator shocks and paroxysmal atrial fibrillation. Titration of β-blocker to a much higher dose suppressed further episodes of ventricular arrhythmia and paroxysmal atrial fibrillation, resulting in reduction in device therapies.
authors.affiliation: Division of Cardiology, Department of Medicine, University of Alberta, Edmonton, Alberta, Canada.
authors.forename: Pedram
authors.initials: P
authors.lastname: Kazemian
authors.forename: Michael H
authors.initials: MH
authors.lastname: Gollob
authors.forename: Alfredo
authors.initials: A
authors.lastname: Pantano
authors.forename: Gavin Y
authors.initials: GY
authors.lastname: Oudit
mesh_terms: D000319:Adrenergic beta-Antagonists / Q000627:therapeutic use*; D000328:Adult; D001281:Atrial Fibrillation / Q000188:drug therapy / Q000209:etiology* / Q000235:genetics; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D004562:Electrocardiography; D005260:Female; D005500:Follow-Up Studies; D005820:Genetic Testing; D006801:Humans; D020125:Mutation, Missense; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics* / Q000378:metabolism; D013614:Tachycardia, Paroxysmal / Q000188:drug therapy / Q000209:etiology* / Q000503:physiopathology; D017180:Tachycardia, Ventricular / Q000150:complications / Q000188:drug therapy / Q000209:etiology*; D000098850:Polymorphic Catecholaminergic Ventricular Tachycardia
chemical_list: D000319:Adrenergic beta-Antagonists; D019837:Ryanodine Receptor Calcium Release Channel; D004247:DNA