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
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Electrocardiography
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Humans
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Infant, Newborn
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Male
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Mutation, Missense / genetics
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NAV1.5 Voltage-Gated Sodium Channel
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Sodium Channels / genetics*
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Sudden Infant Death / genetics*
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Ventricular Fibrillation / genetics
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Ventricular Fibrillation / physiopathology
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Ventricular Fibrillation / therapy*
Substances
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NAV1.5 Voltage-Gated Sodium Channel
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SCN5A protein, human
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Sodium Channels