Molecular diagnosis in a child with sudden infant death syndrome.

Schwartz, P J; Priori, S G; Bloise, R; Napolitano, C; Ronchetti, E; Piccinini, A; Goj, C; Breithardt, G; Schulze-Bahr, E; Wedekind, H; Nastoli, J

Schwartz, P J; Priori, S G; Bloise, R; Napolitano, C; Ronchetti, E; Piccinini, A; Goj, C; Breithardt, G; Schulze-Bahr, E; Wedekind, H; Nastoli, J.

Lancet ; 358(9290): 1342-3, 2001 Oct 20.

Article en En | MEDLINE | ID: mdl-11684219

RESUMEN

Although sudden infant death syndrome (SIDS) has been associated with long QT syndrome-a genetic disorder that causes arrhythmia-a causal link has not been shown. We screened genomic DNA from a child who died of SIDS and identified a de-novo mutation in KVLQT1, the gene most frequently associated with long QT syndrome. This mutation (C350T) had already been identified in an unrelated family that was affected by long QT syndrome. These results confirm the hypothesis that some deaths from SIDS are caused by long QT syndrome and support implementation of neonatal electrocardiographic screening.

Asunto(s)

Síndrome de QT Prolongado/complicaciones; Síndrome de QT Prolongado/genética; Muerte Súbita del Lactante/etiología; Adolescente; Femenino; Humanos; Lactante; Italia; Masculino; Polimorfismo Genético; Muerte Súbita del Lactante/diagnóstico

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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Muerte Súbita del Lactante / Síndrome de QT Prolongado Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Female / Humans / Infant / Male País/Región como asunto: Europa Idioma: En Revista: Lancet Año: 2001 Tipo del documento: Article Pais de publicación: Reino Unido

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