OMIM

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). (614435)

MalaCards based summary

Hypoplastic Left Heart Syndrome 2, also known as hlhs2, is related to ventricular septal defect 3, and has symptoms including hypoplastic left heart, ventricular septal defect and mitral atresia. An important gene associated with Hypoplastic Left Heart Syndrome 2 is NKX2-5 (NK2 Homeobox 5). Affiliated tissues include heart.

UniProtKB/Swiss-Prot

Hypoplastic left heart syndrome 2: A syndrome due to 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.