Near-miss SIDS due to Brugada syndrome.
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.
Skinner
J R
JR
Department of Paediatric Cardiology, Starship Hospital, Grafton, Auckland, New Zealand. JSkinner@adhb.govt.nz
Chung
S-K
SK
Montgomery
D
D
McCulley
C H
CH
Crawford
J
J
French
J
J
Rees
M I
MI
D004562:Electrocardiography; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D062554:NAV1.5 Voltage-Gated Sodium Channel; D015222:Sodium Channels / Q000235:genetics*; D013398:Sudden Infant Death / Q000235:genetics*; D014693:Ventricular Fibrillation / Q000235:genetics / Q000503:physiopathology / Q000628:therapy*
D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human; D015222:Sodium Channels