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[Cardiac sinus node dysfunction due to a new mutation of the SCN5A gene]. / Une dysfonction sinusale en rapport avec une nouvelle mutation faux-sens du gène SCN5A.
Selly, J-B; Boumahni, B; Edmar, A; Jamal Bey, K; Randrianaivo, H; Clerici, G; Millat, G; Caillet, D.
Afiliação
  • Selly JB; Service de réanimation néonatale et pédiatrique, CHU groupe hospitalier Sud, avenue du Président François-Mitterand, 97410 Saint-Pierre, Réunion. bernardselly@hotmail.com
Arch Pediatr ; 19(8): 837-41, 2012 Aug.
Article em Fr | MEDLINE | ID: mdl-22795782
ABSTRACT
A 10-year-old child was hospitalized for bradycardia during a viral infection with chikungunya. His history showed unexplored episodes of bradycardia. Cardiologic explorations revealed cardiac sinus node dysfunction (SD). Mutational screening of the SCN5A gene showed that this case was a compound heterozygote for p.Ala735Val and p.Asp1792Asn missense mutants. Five years later, the child underwent a pacemaker insertion after an electrophysiological study performed during an atrial flutter access.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome do Nó Sinusal / Mutação de Sentido Incorreto / Canal de Sódio Disparado por Voltagem NAV1.5 Tipo de estudo: Diagnostic_studies / Etiology_studies Limite: Child / Humans / Male Idioma: Fr Ano de publicação: 2012 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome do Nó Sinusal / Mutação de Sentido Incorreto / Canal de Sódio Disparado por Voltagem NAV1.5 Tipo de estudo: Diagnostic_studies / Etiology_studies Limite: Child / Humans / Male Idioma: Fr Ano de publicação: 2012 Tipo de documento: Article