An unusual case of tetralogy of Fallot with an absent pulmonary valve associated with a retro-aortic innominate vein in a patient with a 16p12.2 microdeletion.

16p12.2 microdeletion has been associated with congenital heart defects and developmental delay. In this case, we describe the rare association between tetralogy of Fallot with an absent pulmonary valve a right-sided aortic arch and a retro-aortic innominate vein associated with a 16p12.2 microdeletion and epilepsy.