Long QT Syndrome and Dilated Cardiomyopathy with SCN5A p.R1193Q Polymorphism: Cardioverter-Defibrillator Implantation at 27 Months

作者：Kwon Hye Won; Lee Sang Yoon; Kwon Bo Sang; Kim Gi Beom; Bae Eun Jung^*; Kim Woong Han; Il Noh Chung; Cho Sung Im; Park Sung Sup

来源：Pacing and Clinical Electrophysiology, 2012, 35(8): e243-e246.

DOI：10.1111/j.1540-8159.2012.03409.x

• long QT syndrome
• cardiomyopathy
• ventricular fibrillation
• implantable cardioverter-defibrillator

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. (PACE 2012; 35:e243e246)

• 出版日期2012-8