ISSN 1941-5923


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

Charles W. Sauer, Krishelle L. Marc-Aurele

(Department of Pediatrics, University of California, San Diego, CA, USA)

Am J Case Rep 2016; 17:544-548

DOI: 10.12659/AJCR.898327

Published: 2016-07-28

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.

Keywords: Infant, Newborn, Long QT Syndrome, Mass Screening, Sudden Infant Death, Ventricular Fibrillation