• Pediatr Int · Jun 2016

    Case Reports

    Inherited catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation.

    • Toru Watanabe, Seiko Ohno, Masami Shirai, Akira Endoh, Teruaki Hongo, Ikuya Ueta, and Jun Yoshimoto.
    • Department of Pediatrics, Iwata City Hospital, Iwata City, Shizuoka, Japan.
    • Pediatr Int. 2016 Jun 1; 58 (6): 512-515.

    AbstractWe 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.© 2016 Japan Pediatric Society.

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