Hostname: page-component-586b7cd67f-g8jcs Total loading time: 0 Render date: 2024-11-22T14:13:14.543Z Has data issue: false hasContentIssue false

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

Published online by Cambridge University Press:  23 February 2022

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: [email protected]

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.

Type
Review
Copyright
© The Author(s), 2022. Published by Cambridge University Press

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

McDonald-McGinn, DM, Sullivan, KE, Marino, B, et al. 22q11.2 deletion syndrome. Nat Rev Dis Prim 2015; 1: 15071.10.1038/nrdp.2015.71CrossRefGoogle ScholarPubMed
Unolt, M, Versacci, P, Anaclerio, S, et al. Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: from well-established knowledge to new frontiers. Am J Med Genet A 2018; 176: 20872098.10.1002/ajmg.a.38662CrossRefGoogle ScholarPubMed
Momma, K. Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome. Am J Cardiol 2010; 105: 16171624.10.1016/j.amjcard.2010.01.333CrossRefGoogle ScholarPubMed
McElhinney, DB, McDonald-McGinn, D, Zackai, EH, Goldmuntz, E. Cardiovascular anomalies in patients diagnosed with a chromosome 22q11 deletion beyond 6 months of age. Pediatrics 2001; 108: E104.10.1542/peds.108.6.e104CrossRefGoogle ScholarPubMed
Goldmuntz, E, Clark, BJ, Mitchell, LE, et al. Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol 1998; 32: 492498.10.1016/S0735-1097(98)00259-9CrossRefGoogle ScholarPubMed
Théveniau-Ruissy, M, Dandonneau, M, Mesba, K, et al. The del22q11.2 candidate gene tbx1 controls regional outflow tract identity and coronary artery patterning. Circ Res 2008; 103: 142148.10.1161/CIRCRESAHA.108.172189CrossRefGoogle ScholarPubMed
Jue, KL, Lockman, LA, Edwards, JE. Anomalous origins of pulmonary arteries from pulmonary trunk (“crossed pulmonary arteries”): observation in a case with 18 trisomy syndrome. Am Heart J 1966; 71: 807812.10.1016/0002-8703(66)90603-XCrossRefGoogle Scholar
Siwik, ES, Everman, D, Morrison, S. Images in cardiology: crossed pulmonary arteries, ventricular septal defect, and chromosome 22q11 deletion. Heart 2002; 88: 88.10.1136/heart.88.1.88CrossRefGoogle ScholarPubMed
Zimmerman, FJ, Berdusis, K, Wright, KL, Alboliras, ET. Echocardiographic diagnosis of anomalous origins of the pulmonary arteries from the pulmonary trunk (crossed pulmonary arteries). Am Heart J 1997; 133: 257260. DOI 10.1016/S0002-8703(97)70216-3.10.1016/S0002-8703(97)70216-3CrossRefGoogle Scholar
Recto, MR, Parness, IA, Gelb, BD, Lopez, L, Lai, WW. Clinical implications and possible association of malposition of the branch pulmonary arteries with DiGeorge syndrome and microdeletion of chromosomal region 22q11. Am J Cardiol 1997; 80: 16241627.10.1016/S0002-9149(97)00782-0CrossRefGoogle ScholarPubMed
Babaoglu, K, Binnetoglu, FK, Altun, G, Dönmez, M, Anik, Y. Echocardiographic and three-dimensional computed tomographic diagnosis of crossed pulmonary arteries: report of three cases. Pediatr Cardiol 2010; 31: 720722.10.1007/s00246-010-9664-2CrossRefGoogle ScholarPubMed
Chen, J, Feng, Y. A rare case of crossed pulmonary arteries in an infant - case report. J Cardiothorac Surg 2013; 8: 79.10.1186/1749-8090-8-79CrossRefGoogle Scholar
Babaoğlu, K, Altun, G, Binnetoğlu, K, Dönmez, M, Kayabey, Ö., Anık, Y. Crossed pulmonary arteries: a report on 20 cases with an emphasis on the clinical features and the genetic and cardiac abnormalities. Pediatr Cardiol 2013; 34: 17851790.10.1007/s00246-013-0714-4CrossRefGoogle ScholarPubMed
Cuturilo, G, Drakulic, D, Krstic, A, et al. The role of modern imaging techniques in the diagnosis of malposition of the branch pulmonary arteries and possible association with microdeletion 22q11.2. Cardiol Young 2012; 23: 181188.10.1017/S1047951112000571CrossRefGoogle Scholar
Supplementary material: File

Khadr et al. supplementary material

Khadr et al. supplementary material

Download Khadr et al. supplementary material(File)
File 25.5 KB