title: Inherited catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation.
abstract: We report the case of an 11-year-old boy who was diagnosed with catecholaminergic polymorphic ventricular tachycardia (CPVT). The patient had a medical history of three episodes of syncope. The last episode was cardiac arrest while swimming. After resuscitation using automated external defibrillator, he was placed under cerebral hypothermia, examined for long QT syndrome, and underwent insertion of implantable cardioverter defibrillator. He was subsequently discharged from hospital without any adverse sequelae. The patient was diagnosed with CPVT after detection of ryanodine receptor 2 mutation. His father also carried the same mutation, although he did not have any symptoms nor did he have a history of syncope. We propose that CPVT should be included in the differential diagnosis in children with recurrent episodes of syncope.
authors.affiliation: Department of Pediatrics, Iwata City Hospital, Iwata City, Shizuoka, Japan.
authors.forename: Toru
authors.initials: T
authors.lastname: Watanabe
authors.affiliation: Department of Cardiology and Respiratory, Shiga University of Medical Science, Shiga, Japan.
authors.forename: Seiko
authors.initials: S
authors.lastname: Ohno
authors.affiliation: Department of Pediatrics, Iwata City Hospital, Iwata City, Shizuoka, Japan.
authors.forename: Masami
authors.initials: M
authors.lastname: Shirai
authors.affiliation: Department of Pediatrics, Iwata City Hospital, Iwata City, Shizuoka, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Endoh
authors.affiliation: Department of Pediatrics, Iwata City Hospital, Iwata City, Shizuoka, Japan.
authors.forename: Teruaki
authors.initials: T
authors.lastname: Hongo
authors.affiliation: Department of Pediatric Critical Care Medicine, Shizuoka Children's Hospital Medical Center, Iwata City, Shizuoka, Japan.
authors.forename: Ikuya
authors.initials: I
authors.lastname: Ueta
authors.affiliation: Department of Cardiology, Shizuoka Children's Hospital Medical Center, Iwata City, Shizuoka, Japan.
authors.forename: Jun
authors.initials: J
authors.lastname: Yoshimoto
keywords: RYR2; catecholaminergic polymorphic ventricular tachycardia; inheritance; ryanodine receptor calcium-release channel; syncope