transposition of the great arteries, dextro-looped type 2

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transposition of the great arteries, dextro-looped type 2

A congenital heart defect (OMIM:613853) characterised by a complete inversion of the great vessels, such that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle, creating separate pulmonary and systemic circulatory systems that are incompatible with life, despite the presence of atrial and/or ventricular septal defects or other shunts that allow some mixing between the two systems. Surgery is mandatory.
 
Molecular pathology
Caused by defects of CFC1, which encodes a member of the epidermal growth factor Cripto, Frl-1, Cryptic (CFC family), which are involved in signalling during embryonic development.