title: A Neonate with Susceptibility to Long QT Syndrome Type 6 who Presented with Ventricular Fibrillation and Sudden Unexpected Infant Death.
abstract: 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.
authors.affiliation: Department of Pediatrics, University of California, San Diego, CA, USA.
authors.forename: Charles W
authors.initials: CW
authors.lastname: Sauer
authors.affiliation: Department of Pediatrics, University of California, San Diego, CA, USA.
authors.forename: Krishelle L
authors.initials: KL
authors.lastname: Marc-Aurele
mesh_terms: D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D004452:Echocardiography; D004562:Electrocardiography; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006329:Heart Conduction System / Q000503:physiopathology*; D006801:Humans; D007231:Infant, Newborn; D008133:Long QT Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D024642:Potassium Channels, Voltage-Gated / Q000235:genetics* / Q000378:metabolism; D013398:Sudden Infant Death / Q000175:diagnosis / Q000209:etiology*; D014693:Ventricular Fibrillation / Q000150:complications / Q000175:diagnosis / Q000235:genetics*
chemical_list: C489619:KCNE2 protein, human; D024642:Potassium Channels, Voltage-Gated; D004247:DNA