Clinical and genetic investigation of pediatric cases of Wolff-Parkinson-White syndrome in Tunisian families.

Sonia Nouira (1) , Fatma Ouarda (2) , Cherine Charfeddine (1) , Imen Arfa (1) , Houyem Ouragini (1) , Fekria Abid (2) , Sonia Abdelhak (1)

1 Institut Pasteur de Tunis
2 Department of Cardiology

BACKGROUND: Wolff-Parkinson-White (WPW) syndrome is an autosomal-dominant heart disease characterized by an accessory pathway that arises from an aberrant conduction from the atria to the ventricles. Several mutations within the PRKAG2 gene were shown to be responsible for WPW. This gene encodes the γ2 regulatory subunit of adenosine monophosphate (AMP)-activated protein kinase, which functions as a metabolic sensor in cells, responding to cellular energy demands. METHODS: This first study of WPW in a North African population comprises the clinical and genetic investigation of 3 Tunisian families, including 11 affected members. The involvement of the PRKAG2 and NKX2-5 genes was investigated. RESULTS: Mutation screening showed that with the exception of two already reported single-nucleotide polymorphisms, no mutations were detected within the coding region of PRKAG2 or in the NKX2-5 gene. CONCLUSIONS: This study provides further evidence of the genetic heterogeneity of WPW.

Domaines: Génétique

Sonia Nouira, Fatma Ouarda, Cherine Charfeddine, Imen Arfa, Houyem Ouragini, et al.. Clinical and genetic investigation of pediatric cases of Wolff-Parkinson-White syndrome in Tunisian families.. Heart & Lung, 2010, 39 (5), pp.432-6. ⟨10.1016/j.hrtlng.2009.10.012⟩. ⟨pasteur-00612166⟩