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

Part of: Echocardiography

Published online by Cambridge University Press:  23 February 2022

Francesca Cairello Open the ORCID record for Francesca Cairello [Opens in a new window] ,
Marta Gagliardi ,
Silvia A. Magrassi ,
Andrea Secco ,
Maria C. Strozzi  and
Enrico Felici
Francesca Cairello*
Affiliation:
Pediatric and Pediatric Emergency Unit, Pediatric Cardiology Service, The Children Hospital, AO SS Antonio e Biagio e C. Arrigo, Alessandria, Italy
Marta Gagliardi
Affiliation:
Division of Pediatrics, Department of Health Sciences, University of Piemonte Orientale, Novara, Italy
Silvia A. Magrassi
Affiliation:
Pediatric and Pediatric Emergency Unit, Pediatric Cardiology Service, The Children Hospital, AO SS Antonio e Biagio e C. Arrigo, Alessandria, Italy
Andrea Secco
Affiliation:
Pediatric and Pediatric Emergency Unit, Pediatric Cardiology Service, The Children Hospital, AO SS Antonio e Biagio e C. Arrigo, Alessandria, Italy
Maria C. Strozzi
Affiliation:
Department of Maternal, Fetal and Neonatal Medicine, Cesare Arrigo Children’s Hospital, Alessandria, Italy
Enrico Felici
Affiliation:
Pediatric and Pediatric Emergency Unit, Pediatric Cardiology Service, The Children Hospital, AO SS Antonio e Biagio e C. Arrigo, Alessandria, Italy
*
Author for correspondence: F. Cairello, Pediatric and Pediatric Emergency Unit, Pediatric Cardiology Service, The Children Hospital, AO SS Antonio e Biagio e C. Arrigo, Alessandria, Italy. Tel: 0131207857. E-mail: francesca.cairello@ospedale.al.it
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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

Crossed pulmonary arteriesmalposition of pulmonary arteries22q11.2 deletion syndrome
Type
Review
Information
Cardiology in the Young , Volume 32 , Issue 3 , March 2022 , pp. 345 - 346
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Copyright
© The Author(s), 2022. Published by Cambridge University Press

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