Une dysfonction sinusale en rapport avec une nouvelle mutation faux-sens du gène SCN5A
| Autor: | K. Jamal Bey, D. Caillet, B Boumahni, J.-B. Selly, A. Edmar, G. Clerici, Hanitra Randrianaivo, G. Millat |
|---|---|
| Rok vydání: | 2012 |
| Předmět: |
Gynecology
Bradycardia medicine.medical_specialty Scn5a gene business.industry Heterozygote advantage medicine.disease Compound heterozygosity Viral infection Pediatrics Perinatology and Child Health cardiovascular system medicine Missense mutation cardiovascular diseases medicine.symptom business Atrial flutter |
| Zdroj: | Archives de Pédiatrie. 19:837-841 |
| ISSN: | 0929-693X |
| DOI: | 10.1016/j.arcped.2012.04.017 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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