title: Long QT syndrome and dilated cardiomyopathy with SCN5A p.R1193Q polymorphism: cardioverter-defibrillator implantation at 27 months.
abstract: Cardiac sodium channel dysfunction associated with the SCN5A gene presents with mixed phenotypes, including long QT syndrome type 3, sinus node dysfunction, and dilated cardiomyopathy (DCM). We report a Korean case of an overlap syndrome of cardiac sodium channelopathy with SCN5A p.R1193Q polymorphism, treated by the placement of an intrapericardial implantable cardioverter-defibrillator (ICD) at the age of 27 months. Although the patient received two appropriate life-saving shocks for ventricular fibrillations, he eventually died of DCM progression. However, this case shows that intrapericardial ICD implantation is feasible in young children with a high risk for sudden cardiac death.
authors.affiliation: Department of Pediatrics, Seoul National University Children's Hospital, South Korea.
authors.forename: Hye Won
authors.initials: HW
authors.lastname: Kwon
authors.forename: Sang Yoon
authors.initials: SY
authors.lastname: Lee
authors.forename: Bo Sang
authors.initials: BS
authors.lastname: Kwon
authors.forename: Gi Beom
authors.initials: GB
authors.lastname: Kim
authors.forename: Eun Jung
authors.initials: EJ
authors.lastname: Bae
authors.forename: Woong Han
authors.initials: WH
authors.lastname: Kim
authors.forename: Chung Il
authors.initials: CI
authors.lastname: Noh
authors.forename: Sung Im
authors.initials: SI
authors.lastname: Cho
authors.forename: Sung Sup
authors.initials: SS
authors.lastname: Park
mesh_terms: D002311:Cardiomyopathy, Dilated / Q000235:genetics / Q000628:therapy*; D053447:Channelopathies / Q000235:genetics; D002675:Child, Preschool; D017147:Defibrillators, Implantable; D018450:Disease Progression; D017809:Fatal Outcome; D006801:Humans; D008133:Long QT Syndrome / Q000235:genetics* / Q000628:therapy*; D008297:Male; D062554:NAV1.5 Voltage-Gated Sodium Channel / Q000235:genetics*; D011110:Polymorphism, Genetic; D014693:Ventricular Fibrillation / Q000235:genetics / Q000628:therapy
chemical_list: D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human