Crossed pulmonary arteries and DiGeorge syndrome: case reports and literature review

Abstract

DiGeorge syndrome has heterogeneous clinical presentation, and for this reason, its diagnosis can be challenging and may be missed. Since CHDs are very common in this patients, they can be considered pillars of clinical diagnosis of the syndrome. Therefore, accurate echocardiography is needed to detect even minor cardiac anomalies, as some specific malformation like crossed pulmonary arteries can be associated with 22q11 syndrome. We report two cases of newborns where the diagnosis of DiGeorge syndrome was suspected after finding crossed pulmonary arteries on echocardiography. In order to reach a timely diagnosis of DiGeorge syndrome, we suggest a careful echocardiographic examination of the pulmonary arteries position in all patients and genetic analysis for 22q11.2 microdeletion in patients in whom malposition has been detected.

Keywords: 22q11.2 deletion syndrome; Crossed pulmonary arteries; malposition of pulmonary arteries.