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: 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: Pacing and clinical electrophysiology : PACE (Pacing Clin Electrophysiol) Vol. 35 Issue 8 Pg. e243-6 (Aug 2012) ISSN: 1540-8159 [Electronic] United States
• PMID: 22519808 (Publication Type: Case Reports, Journal Article)
• Copyright: ©2012, The Authors. Journal compilation ©2012 Wiley Periodicals, Inc.

Chemical References

• NAV1.5 Voltage-Gated Sodium Channel
• SCN5A protein, human

Topics

• Cardiomyopathy, Dilated (genetics, therapy)
• Channelopathies (genetics)
• Child, Preschool
• Defibrillators, Implantable
• Disease Progression
• Fatal Outcome
• Humans
• Long QT Syndrome (genetics, therapy)
• Male
• NAV1.5 Voltage-Gated Sodium Channel (genetics)
• Polymorphism, Genetic
• Ventricular Fibrillation (genetics, therapy)