Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Ventricular septal defect 3

Ventricular septal defect 3 is an autosomal dominant cardiac malformation that is caused by mutations of the NKX2-5 gene.

Systematic

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
NKX2-5

References:

1.

Chen Y et al. (2010) A novel mutation of GATA4 in a familial atrial septal defect.

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2.

Peng T et al. (2010) Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease.

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3.

Wang J et al. (2011) A novel NKX2-5 mutation in familial ventricular septal defect.

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4.

Wang J et al. (2011) A novel GATA4 mutation responsible for congenital ventricular septal defects.

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5.

OMIM.ORG article

Omim 614432 [^]
Update: April 29, 2019