Key result
Two mutations in the KCNE2 gene consistent with susceptibility to LQTS type 6 were identified in a 19-day-old neonate who presented with ventricular fibrillation and died.
Case Report (n=1)
This case report demonstrates a direct link between KCNE2 gene mutations (LQTS type 6), ventricular fibrillation, and sudden unexpected infant death, raising the question of universal newborn ECG screening.
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Hypothesis-generating for KCNE2 mutations in sudden infant death; larger studies needed before considering newborn ECG screening.
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.
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Sauer et al. (2016) conducted a case report in Long QT Syndrome Type 6 (n=1). KCNE2 gene mutations was evaluated on Death. Two mutations in the KCNE2 gene consistent with susceptibility to LQTS type 6 were identified in a 19-day-old neonate who presented with ventricular fibrillation and died.
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