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Isolated absent right pulmonary artery in an infant with 22q11 deletion

Part of: Echocardiography Atrial Septal Defect (ASD)

Published online by Cambridge University Press:  21 April 2021

Ankit Garg Open the ORCID record for Ankit Garg [Opens in a new window] ,
Sushil Azad  and
Sitaraman Radhakrishnan
Ankit Garg*
Affiliation:
Department of Pediatric Cardiology, Fortis Escorts Heart Institute, Delhi, India
Sushil Azad
Affiliation:
Department of Pediatric Cardiology, Fortis Escorts Heart Institute, Delhi, India
Sitaraman Radhakrishnan
Affiliation:
Department of Pediatric Cardiology, Fortis Escorts Heart Institute, Delhi, India
*
Author for correspondence: Dr Ankit Garg, Department of Pediatric Cardiology, Fifth floor, Fortis Escorts Heart Institute, New friends colony, New Delhi 110025, India. Tel: +91 8447665464. E-mail: [email protected]
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Abstract

DiGeorge syndrome is a rare spectrum of disorder affecting structures derived from third and fourth pharyngeal pouches characterised by aplasia or hypoplasia of thymus and parathyroid glands, and conotruncal anomalies. Presentation includes infants with hypocalcemic seizures, CHD, or recurrent infection. This case report illustrates a unique combination of proximal interruption of right pulmonary artery and aberrant right subclavian artery in a 3-month-old infant who was subsequently diagnosed as DiGeorge syndrome. This constellation of vascular anomalies in an infant with DiGeorge syndrome has not been previously reported in the literature.

Keywords

DiGeorge syndrome22q11 deletionabsent right pulmonary arterypulmonary artery interruption
Type
Brief Report
Information
Cardiology in the Young , Volume 31 , Issue 11 , November 2021 , pp. 1850 - 1852
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Copyright
© The Author(s), 2021. Published by Cambridge University Press

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References

Kirkpatrick, JA Jr, DiGeorge, AM. Congenital absence of the thymus. Am J Roentgenol Radium Ther Nucl Med 1968; 103: 32–37.CrossRefGoogle ScholarPubMed
Conley, ME, Beckwith, JB, Mancer, JF, et al The spectrum of the DiGeorge syndrome. J Pediatr 1979; 94: 883–890.CrossRefGoogle ScholarPubMed
McDonald-McGinn, DM, LaRossa, D, Goldmuntz, E, et al The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. Genet Test 1997; 1: 99–108.CrossRefGoogle ScholarPubMed
Ryan, AK, Goodship, JA, Wilson, DI, et al Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 1997; 34: 798–804.CrossRefGoogle ScholarPubMed
Goldmuntz, E. DiGeorge syndrome: new insights. Clin Perinatol 2005; 32: 963–978.CrossRefGoogle ScholarPubMed
Maggadottir, SM, Sullivan, KE. The diverse clinical features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome). J Allergy Clin Immunol Pract 2013; 1: 589–594.CrossRefGoogle Scholar
Hanneman, K, Newman, B, Chan, F. Congenital variants and anomalies of the aortic arch. Radiographics 2017; 37: 32–51.CrossRefGoogle ScholarPubMed
Mastromoro, G, Calcagni, G, Versacci, P, et al Left pulmonary artery in 22q11. 2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice. PloS One 2019; 14: e0211170.CrossRefGoogle ScholarPubMed
Maldjian, P, Sanders, AE. 22q11 Deletion syndrome with vascular anomalies. J Clin Imaging Sci 2018; 8: 1.CrossRefGoogle ScholarPubMed
Kruzliak, P, Syamasundar, RP, Novak, M, Pechanova, O, Kovacova, G. Unilateral absence of pulmonary artery: pathophysiology, symptoms, diagnosis and current treatment. Arch Cardiovasc Dis 2013; 106: 448–454.CrossRefGoogle ScholarPubMed