An SCN5A missense mutation (R1193Q) linked to Brugada syndrome caused near-miss sudden infant death syndrome via ventricular fibrillation in an infant with a normal ECG.
Brugada syndrome due to an SCN5A mutation can present as near-miss sudden infant death syndrome (SIDS) with ventricular fibrillation, even in the presence of a persistently normal ECG.
Absolute Event Rate: 0% vs 0%
A 19 day old infant was successfully resuscitated from ventricular fibrillation. The 12 lead ECG was normal, with a normal QT interval, and remains so over three years follow up. DNA analysis revealed a missense mutation (R1193Q) in the SCN5A gene, previously linked with familial sudden unexpected nocturnal death syndrome, also known as Brugada syndrome.
Jonathan R. Skinner (Mon,) reported a other. An SCN5A missense mutation (R1193Q) linked to Brugada syndrome caused near-miss sudden infant death syndrome via ventricular fibrillation in an infant with a normal ECG.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: