Near-miss SIDS due to Brugada syndrome.

Abstract

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.

• Authors: J R Skinner, S-K Chung, D Montgomery, C H McCulley, J Crawford, J French, M I Rees
• Journal: Archives of disease in childhood (Arch Dis Child) Vol. 90 Issue 5 Pg. 528-9 (May 2005) ISSN: 1468-2044 [Electronic] England
• PMID: 15851440 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• NAV1.5 Voltage-Gated Sodium Channel
• SCN5A protein, human
• Sodium Channels

Topics

• Electrocardiography
• Humans
• Infant, Newborn
• Male
• Mutation, Missense (genetics)
• NAV1.5 Voltage-Gated Sodium Channel
• Sodium Channels (genetics)
• Sudden Infant Death (genetics)
• Ventricular Fibrillation (genetics, physiopathology, therapy)