Aortic atresia is a rare finding and has not been previously described with superior-inferior ventricles. Presented here is a case of a heart with these concomitant findings and review of reported cases of aortic atresia in the absence of hypoplastic left heart syndrome. The aim of this report is to help highlight associated findings and the clinical approach taken. Also highlighted is the importance of not mistaking aortic atresia for common arterial trunk.

We describe two siblings of consanguineous parents with a prenatal diagnosis of a currently unique form of congenital cardiac disease characterized by superior-inferior atrial and ventricular arrangement, concordant atrioventricular and ventriculo-arterial connections with normal arterial relationships, and a bizarre topography of the ventricular outlets, with the arterial poles being displaced posterior-inferiorly within the thorax. The abnormally low position of the aortic arch resulted in elongation and stretching of the airways, with severe compression of the trachea and left main bronchus in the surviving sibling. The finding of the same rare abnormality in a son and a daughter born to consanguineous parents supports a single gene disorder with a recessive mode of inheritance.