因布加综合征导致的近猝死型婴儿猝死综合征
Near-miss SIDS due to Brugada syndrome.
作者信息
Skinner J R, Chung S-K, Montgomery D, McCulley C H, Crawford J, French J, Rees M I
机构信息
Department of Paediatric Cardiology, Starship Hospital, Grafton, Auckland, New Zealand.
出版信息
Arch Dis Child. 2005 May;90(5):528-9. doi: 10.1136/adc.2004.058115.
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.
摘要
一名19天大的婴儿成功从心室颤动中复苏。其12导联心电图正常，QT间期正常，且在三年的随访中一直保持正常。DNA分析显示SCN5A基因存在错义突变（R1193Q），该基因先前与家族性夜间意外猝死综合征（也称为 Brugada综合征）有关。
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