Long QT syndrome due to a novel mutation in SCN5A

Treatment with ICD placement at 1 month and left cardiac sympathetic denervation at 3 months of age

Eric S. Silver, Leonardo Liberman, Wendy K. Chung, Henry M. Spotnitz, Jonathan M. Chen, Michael John Ackerman, Christopher Moir, Allan J. Hordof, Robert H. Pass

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

We describe the case of a newborn with congenital long QT syndrome, with 2:1 AV block and frequent episodes of Torsades de Pointes (TdP) requiring placement of a dual chamber ICD at 33 days and 3.63 kg, the youngest and smallest patient, thus far reported. Long QT syndrome was diagnosed due to bradycardia in the newborn nursery, with frequent episodes of TdP. The patient was initially treated with magnesium and esmolol then given lidocaine which resulted in dramatic transient normalization of the QTc with 1:1 AV nodal conduction. An attempt to transition to oral sodium channel and beta blockade was unsuccessful. An ICD was placed and dual chamber pacing was initiated which facilitated the transition to an oral medical regimen and ultimate discharge from the hospital. Soon after placement of the ICD, genetic testing revealed a novel F1473C mutation in the SCN5A gene. Episodes of TdP continued and left stellate gangliectomy was performed at 3 months of age. At 30 months follow-up, the patient has occasional, self-limited episodes of TdP and has received rare, successful, and appropriate ICD shocks.

Original languageEnglish (US)
Pages (from-to)41-45
Number of pages5
JournalJournal of Interventional Cardiac Electrophysiology
Volume26
Issue number1
DOIs
StatePublished - Oct 2009

Fingerprint

Torsades de Pointes
Long QT Syndrome
Sympathectomy
Mutation
Newborn Infant
Nurseries
Atrioventricular Block
Sodium Channels
Genetic Testing
Therapeutics
Bradycardia
Lidocaine
Magnesium
Shock
Genes

Keywords

  • Implantable cardioverter defibrillator
  • Long QT Syndrome
  • Pediatric
  • SCN5A
  • Sympathectomy

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Physiology (medical)

Cite this

Long QT syndrome due to a novel mutation in SCN5A : Treatment with ICD placement at 1 month and left cardiac sympathetic denervation at 3 months of age. / Silver, Eric S.; Liberman, Leonardo; Chung, Wendy K.; Spotnitz, Henry M.; Chen, Jonathan M.; Ackerman, Michael John; Moir, Christopher; Hordof, Allan J.; Pass, Robert H.

In: Journal of Interventional Cardiac Electrophysiology, Vol. 26, No. 1, 10.2009, p. 41-45.

Research output: Contribution to journalArticle

Silver, Eric S. ; Liberman, Leonardo ; Chung, Wendy K. ; Spotnitz, Henry M. ; Chen, Jonathan M. ; Ackerman, Michael John ; Moir, Christopher ; Hordof, Allan J. ; Pass, Robert H. / Long QT syndrome due to a novel mutation in SCN5A : Treatment with ICD placement at 1 month and left cardiac sympathetic denervation at 3 months of age. In: Journal of Interventional Cardiac Electrophysiology. 2009 ; Vol. 26, No. 1. pp. 41-45.
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