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Inherited catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation
Author(s) -
Watanabe Toru,
Ohno Seiko,
Shirai Masami,
Endoh Akira,
Hongo Teruaki,
Ueta Ikuya,
Yoshimoto Jun
Publication year - 2016
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.12910
Subject(s) - catecholaminergic polymorphic ventricular tachycardia , medicine , ryanodine receptor 2 , syncope (phonology) , ventricular tachycardia , cardiology , implantable cardioverter defibrillator , tachycardia , sudden cardiac death , ventricular fibrillation , ryanodine receptor , receptor
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.