Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Atrial septal defect 7 with or without AV conduction defects

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.

Systematic

Congenital cadiac malformations
Atrial septal defect 7 with or without AV conduction defects
NKX2-5
Conotruncal heart malformations
Hypoplastic left heart syndrome 2
Tetralogy of Fallot
Ventricular septal defect 3

References:

1.

Pease WE et. al. (1976) Familial atrial septal defect with prolonged atrioventricular conduction.

[^]
2.

Schott JJ et. al. (1998) Congenital heart disease caused by mutations in the transcription factor NKX2-5.

[^]
3.

Watanabe Y et. al. (2002) Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD.

[^]
4.

McElhinney DB et. al. (2003) NKX2.5 mutations in patients with congenital heart disease.

[^]
5.

Hirayama-Yamada K et. al. (2005) Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.

[^]
6.

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?

[^]
7.

Bosi G et. al. (1992) Familial atrial septal defect with prolonged atrioventricular conduction.

[^]
8.

Bizarro RO et. al. (1970) Familial atrial septal defect with prolonged atrioventricular conduction. A syndrome showing the autosomal dominant pattern of inheritance.

[^]
9.

Amarasingham R et. al. (1967) Congenital heart disease with arrhythmia in a family.

[^]
10.

Basson CT et. al. (1995) Genetic heterogeneity of heart-hand syndromes.

[^]
11.

WEIL MH et. al. (1961) A report of congenital heart disease in five members of one family.

[^]
Update: Sept. 26, 2018