Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hypoplastic left heart syndrome 2

Hypoplastic left heart syndrome 2 is an autosomal dominant disorder caused by mutations of the NKX2-5 gene. It is characterized by an underdeveloped left ventricle, and aorta, aortic arch, and mitral valve may be involved.

Systematic

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

References:

1.

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

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2.

Stallmeyer B et. al. (2010) Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease.

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3.

None (1953) Congenital aortic atresia and hypoplasia of the aortic orifice; case reports on two members of a family.

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Update: Sept. 26, 2018