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

Kwon, Hye Won; Lee, Sang Yoon; Kwon, Bo Sang; Kim, Gi Beom; Bae, Eun Jung; Kim, Woong Han; Noh, Chung Il; Cho, Sung Im; Park, Sung Sup
Pacing and clinical electrophysiology : PACE
2012Aug ; 35 ( 8 ) :e243-6.
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Kwon, Hye Won -
Lee, Sang Yoon -
Kwon, Bo Sang -
Kim, Gi Beom -
Bae, Eun Jung -
Kim, Woong Han -
Noh, Chung Il -
Cho, Sung Im -
Park, Sung Sup -
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. CI - ??012, The Authors. Journal compilation ??012 Wiley Periodicals, Inc.
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MESH
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
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this case shows that intrapericardial ICD implantation is feasible in young children with a high risk for sudden cardiac death.
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DOI
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ICD 03
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