Inherited catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation. Issue 6 (25th May 2016)

• Record Type: Journal Article
• Authors: Watanabe, Toru; Ohno, Seiko; Shirai, Masami; Endoh, Akira; Hongo, Teruaki; Ueta, Ikuya; Yoshimoto, Jun
• Is Part Of: Pediatrics international. Volume 58:Issue 6(2016)
• Page Start: 512
• Page End: 515
• Publication Date: 2016-05-25
• Subjects: catecholaminergic polymorphic ventricular tachycardia -- inheritance -- ryanodine receptor calcium‐release channel -- RYR2 -- syncope; Pediatrics -- Periodicals; 618.92
• DOI: 10.1111/ped.12910
• Languages: English
• ISSNs: 1328-8067

Abstract

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.