transposition of the great arteries, dextro-looped type 1

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transposition of the great arteries, dextro-looped type 1

A congenital heart defect (OMIM:608808) 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 MED13L, which encodes a protein of the mediator complex (MC), a transcriptional coactivator complex thought to be required for most gene expression.