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.
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McElhinney DB et al. (2003) NKX2.5 mutations in patients with congenital heart disease. |
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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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None (1953) Congenital aortic atresia and hypoplasia of the aortic orifice; case reports on two members of a family. |
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OMIM.ORG article Omim 614435 |