Hostname: page-component-78c5997874-8bhkd Total loading time: 0 Render date: 2024-11-19T06:25:28.586Z Has data issue: false hasContentIssue false
  • English
  • Français

Chromosome 22q11 deletion in a patient with pulmonary atresia, intact ventricular septum, and confluent branch pulmonary arteries

Part of: Cardiac Morphology

Published online by Cambridge University Press:  13 December 2017

Varun Aggarwal ,
Michaki Imamura ,
Carlos Acuna  and
Antonio G. Cabrera
Varun Aggarwal
Affiliation:
Department of Pediatrics, Lillie Frank Abercombie Section of Cardiology, Texas Children’s Hospital and Baylor College of Medicine, Houston, Texas, United States of America
Michaki Imamura
Affiliation:
Department of Surgery, Division of Congenital Heart Surgery, Texas Children’s Hospital and Baylor College of Medicine, Houston, Texas, United States of America
Carlos Acuna
Affiliation:
Department of Pediatrics, Division of Critical Care, Hospital Luis Calvo Mackenna, Providencia, Santiago, Chile
Antonio G. Cabrera*
Affiliation:
Department of Pediatrics, Lillie Frank Abercombie Section of Cardiology, Texas Children’s Hospital and Baylor College of Medicine, Houston, Texas, United States of America
*
Correspondence to: A. Cabrera, Department of Pediatrics, Lillie Frank Abercombie Section of Cardiology, Texas Children’s Hospital and Baylor College of Medicine, Houston, TX, United States of America. Tel: +1-832-826-5048; Fax: +1-832-825-5921; E-mail: [email protected]
Get access Rights & Permissions [Opens in a new window]

Abstract

In this study, we report a patient with pulmonary atresia with intact ventricular septum (PA/IVS), confluent pulmonary arteries supplied by an arterial duct, and chromosome 22q11.2 microdeletion. The 22q11.2 deletion syndrome has been associated with anomalies of the outflow tracts, such as tetralogy of Fallot with either pulmonary stenosis or atresia, but we are aware of a solitary case described with pulmonary atresia when the ventricular septum is intact. The presence of genetic malformations can have long-term co-morbidities. By describing our patient, we aim to create awareness of this rare association.

Keywords

Chromosome 22q11 deletionpulmonary atresiaintact ventricular septumconfluent branch pulmonary arteriesright aortic arch
Type
Brief Report
Information
Cardiology in the Young , Volume 28 , Issue 3 , March 2018 , pp. 467 - 470
Check for updates
Copyright
© Cambridge University Press 2017 

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

1. Daubeney, PEF, Delany, DJ, Anderson, RH, et al. Pulmonary atresia with intact ventricular septum. Range of morphology in a population-based study. J Am Coll Cardiol 2002; 39: 1670–1679.Google Scholar
2. Sullivan, KE. Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/velocardiofacial syndrome. Immunol Allergy Clin North Am 2008; 28: 353–366.Google Scholar
3. Hay, BN. Deletion 22q11: spectrum of associated disorders. Semin Pediatr Neurol 2007; 14: 136–139.CrossRefGoogle ScholarPubMed
4. Li, C, Chudley, AE, Soni, R, Divekar, A. Pulmonary atresia with intact ventricular septum and major aortopulmonary collaterals: association with deletion 22q11.2. Pediatr Cardiol 2003; 24: 585–587.Google Scholar
5. Momma, K. Cardiovascular anomalies associated with chromosome 22q11.2 deletion. Int J Cardiol 2007; 114: 147–149.Google Scholar
6. Goodship, J, Cross, I, LiLing, J, Wren, C. A population study of chromosome 22q11 deletions in infancy. Arch Dis Child 1998; 79: 348–351.Google Scholar
7. McDonald-McGinn, DM, Sullivan, KE, Marino, B, et al. 22q11.2 deletion syndrome. Nat Rev Dis Primers 2015; 1: 15071.Google Scholar
8. 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.Google Scholar
9. Momma, K. Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome. Am J Cardiol 2010; 105: 1617–1624.Google Scholar
10. Harris, JA, Francannet, C, Pradat, P, et al. The epidemiology of cardiovascular defects, part 2. A study based on data from three large registries of congenital malformations. Pediatr Cardiol 2003; 24: 222–235.Google Scholar
11. Carotti, A, Digilio, MC, Piacentini, G, et al. Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome. Dev Disabil Res Rev 2008; 14: 35–42.Google Scholar