Atrial septal defect 7 with AV conduction defects is a rare congenital cardiac malfrmation that is autosomal dominantly inherited and caused by mutations in the NKX2-5 gene.
|Congenital cadiac malformations|
|Atrial septal defect 7 with or without AV conduction defects|
|Conotruncal heart malformations|
|Hypoplastic left heart syndrome 2|
|Tetralogy of Fallot|
|Ventricular septal defect 3|
Pease WE et al. (1976) Familial atrial septal defect with prolonged atrioventricular conduction.
Schott JJ et al. (1998) Congenital heart disease caused by mutations in the transcription factor NKX2-5.
Watanabe Y et al. (2002) Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD.
McElhinney DB et al. (2003) NKX2.5 mutations in patients with congenital heart disease.
Hirayama-Yamada K et al. (2005) Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.
Gutierrez-Roelens I et al. (2006) A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype?
Bosi G et al. (1992) Familial atrial septal defect with prolonged atrioventricular conduction.
Bizarro RO et al. (1970) Familial atrial septal defect with prolonged atrioventricular conduction. A syndrome showing the autosomal dominant pattern of inheritance.
Amarasingham R et al. (1967) Congenital heart disease with arrhythmia in a family.
Basson CT et al. (1995) Genetic heterogeneity of heart-hand syndromes.
WEIL MH et al. (1961) A report of congenital heart disease in five members of one family.
OMIM.ORG articleOmim 108900
Orphanet articleOrphanet ID 1479