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GTR Home > Conditions/Phenotypes > Hypoplastic left heart syndrome 2

Hypoplastic left heart syndrome 2

Summary

Hypoplastic left heart syndrome results from defective development of the aorta proximal to the entrance of the ductus arteriosus and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged (Brekke, 1953). For a discussion of genetic heterogeneity of hypoplastic left heart syndrome, see HLHS1 (241550). [from OMIM]

Available tests

48 tests are in the database for this condition.

Clinical tests (48 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CHNG5, CSX, CSX1, HLHS2, NKX2.5, NKX2E, NKX4-1, VSD3, NKX2-5
    Summary: NK2 homeobox 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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