Near-miss SIDS due to Brugada syndrome

J R Skinner; S-K Chung; D Montgomery; C H McCulley; J Crawford; J French; M I Rees

doi:10.1136/adc.2004.058115

Near-miss SIDS due to Brugada syndrome

Arch Dis Child. 2005 May;90(5):528-9. doi: 10.1136/adc.2004.058115.

Authors

J R Skinner¹, S-K Chung, D Montgomery, C H McCulley, J Crawford, J French, M I Rees

Affiliation

¹ Department of Paediatric Cardiology, Starship Hospital, Grafton, Auckland, New Zealand. [email protected]

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

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