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

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-o...

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Bibliographic Details
Published in:The American journal of case reports 2016-07, Vol.17, p.544-548
Main Authors: Sauer, Charles W, Marc-Aurele, Krishelle L
Format: Article
Language:English
Subjects:
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
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Summary: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.
ISSN:1941-5923
1941-5923
DOI:10.12659/AJCR.898327