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A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype?

European journal of human genetics : EJHG - 1 Dec 2006

Gutierrez-Roelens Ilse, De Roy Luc, Ovaert Caroline, Sluysmans Thierry, Devriendt Koen, Brunner Han G, Vikkula Miikka

Abstract excerpt

The prevalence of congenital heart defects is approximately 1% of all live births. Identifying the genes responsible for cardiac malformation is the first step to understand pathogenesis. Heterozygous mutations in the CSX/NKX2-5 (NKX2E) gene have been identified to cause atrial septal defect (ASD) and/or atrioventricular (AV) conduction disturbance in some families. However, there is great variability in...

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Heart Block
Heart Defects, Congenital
Heart Septal Defects, Atrial
Homeobox Protein Nkx-2.5
Homeodomain Proteins

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PMID: 16896344
DOI: 10.1038/sj.ejhg.5201702

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A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype?PMID 16896344Read ↗

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