Referenced in: none

Automatically associated channels: Nav1.5

Title: Long QT syndrome and dilated cardiomyopathy with SCN5A p.R1193Q polymorphism: cardioverter-defibrillator implantation at 27 months.

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

Journal, date & volume: Pacing Clin Electrophysiol, 2012 Aug , 35, e243-6

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/22519808

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.