" /> Hypoplastic left heart syndrome 2 - CISMeF





Preferred Label : Hypoplastic left heart syndrome 2;

Symbol : HLHS2;

CISMeF acronym : HLHS2;

Type : Phenotype, molecular basis known;

Description : 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).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the NK2 homeobox-5 gene (NKX2-5, 600584.0004);

Prefixed ID : #614435;

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28/07/2025


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