Anatomically corrected malposition of the great arteries (S,L,D) with mutation of Nodal gene

Abstract

Anatomically corrected malposition of the great arteries is a rare CHD, involving alignment and position of the great arteries. We report an infant with situs solitus, atrioventricular discordance, and ventriculoarterial concordance with the aorta arising anteriorly and to the right of the pulmonary artery. A mutation of Nodal gene, implicated in the pathogenesis of human left-right patterning defects, was found.

Keywords: Anatomically corrected malposition of the great arteries; Nodal gene; discordant atrioventricular connections; laterality defects; ventricular l-loop.