hypoplastic left heart syndrome 1

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hypoplastic left heart syndrome 12016-11-26T05:51:45+00:00

hypoplastic left heart syndrome 1

EMBRYOLOGY, GENETICS

A congenital heart syndrome (OMIM:241550) due to defective development of the aorta proximal to the entrance of the ductus arteriosus, and left ventricular and mitral valve hypoplasia. 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. 

Molecular pathology Defects of GJA1, which encodes a gap junction family protein (connexin) thought to play a crucial role in the synchronised contraction of the heart and in embryonic development, cause hypoplastic left heart syndrome 1.

References http://www.uniprot.org/uniprot/P17302

http://www.omim.org/entry/241550

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