A Neonate with Susceptibility to Long QT Syndrome Type 6 who Presented with Ventricular Fibrillation and Sudden Unexpected Infant Death

Am J Case Rep. 2016 Jul 28;17:544-8. doi: 10.12659/ajcr.898327.


BACKGROUND This is a case of a neonate with susceptibility to long QT syndrome (LQTS) who presented with a sudden unexpected infant death. Experts continue to debate whether universal electrocardiogram (ECG) screening of all newborns is feasible, practical, and cost-effective. CASE REPORT A 19-day-old neonate was found unresponsive by her mother. ECG showed ventricular fibrillation and a combination of a lidocaine drip plus multiple defibrillations converted the rhythm to normal sinus. Unfortunately, MRI brain imaging showed multiple infarcts and EEG showed burst suppression pattern with frequent seizures; life supportive treatment was stopped and the infant died. Genetic testing revealed two mutations in the KCNE2 gene consistent with susceptibility to LQTS type 6. CONCLUSIONS We believe this case is the first to demonstrate both a precipitating electrocardiographic and genetic cause of death for an infant with LQTS, showing a cause-and-effect relationship between LQTS mutation, ventricular arrhythmia, and death. We wonder whether universal ECG newborn screening to prevent LQTS death could have saved this baby.

Publication types

  • Case Reports

MeSH terms

  • DNA / genetics*
  • DNA Mutational Analysis
  • Echocardiography
  • Electrocardiography
  • Female
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Heart Conduction System / physiopathology*
  • Humans
  • Infant, Newborn
  • Long QT Syndrome / complications
  • Long QT Syndrome / diagnosis
  • Long QT Syndrome / genetics*
  • Mutation*
  • Potassium Channels, Voltage-Gated / genetics*
  • Potassium Channels, Voltage-Gated / metabolism
  • Sudden Infant Death / diagnosis
  • Sudden Infant Death / etiology*
  • Ventricular Fibrillation / complications
  • Ventricular Fibrillation / diagnosis
  • Ventricular Fibrillation / genetics*


  • KCNE2 protein, human
  • Potassium Channels, Voltage-Gated
  • DNA

Supplementary concepts

  • Long Qt Syndrome 6