Cardiac ion channel mutations in the sudden infant death syndrome

作者: Eva C. Klaver , G. Marja Versluijs , Ronald Wilders

DOI: 10.1016/J.IJCARD.2010.12.051

关键词: Long QT syndromeShort QT syndromeGenetic analysisBrugada syndromeBioinformaticsMedicineSudden infant death syndromePopulationCardiologySudden deathInternal medicineAutonomic disorder

摘要: Sudden infant death syndrome (SIDS) is characterized by the sudden of an that occurs during sleep and remains unexplained despite thorough examination. In addition to clinical associations such as prone sleeping exposure cigarette smoke, several genetic factors have been identified with regard SIDS, including autonomic disorders, immunologic polymorphisms metabolic disorders. past decade, postmortem analysis ('molecular autopsy') SIDS cases has revealed a number cardiac ion channel mutations are associated arrhythmia syndromes, long QT syndrome, Brugada short syndrome. Mutations found in genes encoding (subunits of) potassium, sodium calcium channels, well involved trafficking or regulation these channels. Here, we review literature on relation SIDS. Combining data from population-based cohort studies, conclude at least one out five victims carries mutation channel-related gene majority known malignant phenotype. Genetic therefore recommended death. More research required further elucidate pathophysiology determine whether electrocardiographic screening apparently healthy infants should be pursued.

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