Skip to main content

Advertisement

SpringerLink
Log in

22q11.2 Deletion Status Influences Resource Utilization in Infants Requiring Repair of Tetralogy of Fallot and Common Arterial Trunk

  • Original Article
  • Published:
Pediatric Cardiology Aims and scope Submit manuscript

Abstract

22q11.2 deletion syndrome leads to both cardiac and non-cardiac developmental defects. We aimed to study the impact of 22q11.2 deletion syndrome on in-hospital outcomes in children undergoing surgical repair for tetralogy of Fallot (TOF) and truncus arteriosus (TA). Using the nationally representative Kids Inpatient Database (KID), we analyzed data from in-hospital pediatric patients for the years 2003, 2006, 2009, and 2012. We compared the in-hospital outcomes between those with and those without 22q11.2 deletion syndrome. There were 6126 cases of TOF and 968 cases of TA. 22q11.2 deletion syndrome were documented in 7.2% (n = 441) of the TOF and 27.4% (n  =  265) of the TA group. 22q11.2 deletion did not significantly increase the risk of mortality in either group: [OR = 1.98 (95% CI 0.99–3.94), adjusted p  =  0.053] for TOF and OR = 1.07 (95% CI 0.57–1.99), adjusted p = 0.82 for TA. However, the length of hospitalization was longer in the 22q11.2 deletion group by 8.6 days (95% CI 5.2–12), adjusted p < 0.001 for TOF and by 8.15 days (95% CI 1.05–15.25), adjusted p = 0.025 for the TA group. Acute respiratory failure [10.6% vs 5.5%, p < 0.001] and acute renal failure [6.3% vs 2.6%, p < 0.001] were higher in 22q11.2 deletion cohort within the TOF group but not in the TA group. Though survival is not affected, children with 22q11.2 deletion syndrome who undergo surgical repair for TOF and TA use significantly more hospital resources—specifically longer hospital stay and higher hospitalization cost—than those without 22q11.2 deletion syndrome. Prenatal or preoperative testing for 22q11deletion is indicated to make appropriate adjustments in parental, caregiver, and administrative expectations.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. McDonald-McGinn DM, Don L, Goldmuntz E et al (1997) The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. Genet Test 1:99–108

    Article  CAS  Google Scholar 

  2. McDonald-McGinn DM, Kirschner R, Goldmuntz E et al (1999) The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns 10:11–24

    CAS  PubMed  Google Scholar 

  3. McDonald-McGinn DM, Sullivan KE (2011) Chromosome 22q11.2 deletion syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome). Medicine 90:1–18

    Article  Google Scholar 

  4. Ryan AK, Goodship JA, Wilson DI et al (1997) Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 34:798–804

    Article  CAS  Google Scholar 

  5. Goldmuntz E, Driscoll DA, Emanuel BS et al (2009) Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome. Birth Defects Res A Clin Mol Teratol 85:125–129

    Article  CAS  Google Scholar 

  6. Alsoufi B, McCracken C, Shashidharan S et al (2017) The impact of 22q11.2 deletion syndrome on surgical repair outcomes of conotruncal cardiac anomalies. Ann Thorac Surg 104:1597–1604

    Article  Google Scholar 

  7. McDonald R, Dodgen A, Goyal S et al (2013) Impact of 22q11.2 deletion on the postoperative course of children after cardiac surgery. Pediatr Cardiol 34:341–347

    Article  Google Scholar 

  8. Anaclerio S, Di Ciommo V, Michielon G et al (2004) Conotruncal heart defects: impact of genetic syndromes on immediate operative mortality. Ital Heart J 5:624–628

    PubMed  Google Scholar 

  9. Peyvandi S, Ingall E, Woyciechowski S et al (2014) Risk of congenital heart disease in relatives of probands with conotruncal cardiac defects: an evaluation of 1,620 families. Am J Med Genet A 164A:1490–1495

    Article  Google Scholar 

  10. O’Byrne ML, Yang W, Mercer-Rosa L et al (2014) 22q11. 2 Deletion syndrome is associated with increased perioperative events and more complicated postoperative course in infants undergoing infant operative correction of truncus arteriosus communis or interrupted aortic arch. J Thorac Cardiovasc Surg 148:1597–1605

    Article  Google Scholar 

  11. Carotti A, Digilio MC, Piacentini G et al (2008) Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome. Dev Disabil Res Rev 14:35–42

    Article  Google Scholar 

  12. Naimo PS, Fricke TA, Yong MS et al (2016) Outcomes of truncus arteriosus repair in children: 35 years of experience from a single institution. Semin Thorac Cardiovasc Surg 28:500–511

    Article  Google Scholar 

  13. Ghimire LV, Chou F-S, Devoe C, Moon-Grady A (2019) Comparison of in-hospital outcomes when repair of tetralogy of fallot is in the neonatal period versus in the post-neonatal period. Am J Cardiol. https://doi.org/10.1016/j.amjcard.2019.09.025

    Article  PubMed  Google Scholar 

  14. Hennein HA, Mosca RS, Urcelay G, et al (1995) Intermediate results after complete repair of tetralogy of Fallot in neonates. J Thorac Cardiovasc Surg 109:332–42, 344; discussion 342–3

  15. Reddy VM, Liddicoat JR, McElhinney DB et al (1995) Routine primary repair of tetralogy of Fallot in neonates and infants less than three months of age. Ann Thorac Surg 60:S592–S596

    Article  CAS  Google Scholar 

  16. Pigula FA, Khalil PN, Mayer JE et al (1999) Repair of tetralogy of Fallot in neonates and young infants. Circulation 100:II157–II161

    Article  CAS  Google Scholar 

  17. Tamesberger MI, Lechner E, Mair R et al (2008) Early primary repair of tetralogy of Fallot in neonates and infants less than four months of age. Ann Thorac Surg 86:1928–1935

    Article  Google Scholar 

  18. Chen Q, Gao H, Hua Z et al (2016) Outcomes of surgical repair for persistent truncus arteriosus from neonates to adults: a single center’s experience. PLoS ONE 11:e0146800

    Article  Google Scholar 

  19. Tlaskal T, Chaloupecky V, Hucin B et al (2010) Long-term results after correction of persistent truncus arteriosus in 83 patients. Eur J Cardiothorac Surg 37:1278–1284

    Article  Google Scholar 

  20. Brown JW, Ruzmetov M, Okada Y et al (2001) Truncus arteriosus repair: outcomes, risk factors, reoperation and management. Eur J Cardiothorac Surg 20:221–227

    Article  CAS  Google Scholar 

  21. Luo K, Zheng J, Zhu Z et al (2018) Outcomes of right ventricular outflow tract reconstruction for children with persistent truncus arteriosus: a 10-year single-center experience. Pediatr Cardiol 39:565–574

    Article  Google Scholar 

  22. Ziolkowska L, Kawalec W, Turska-Kmiec A et al (2008) Chromosome 22q11.2 microdeletion in children with conotruncal heart defects: frequency, associated cardiovascular anomalies, and outcome following cardiac surgery. Eur J Pediatr 167:1135–1140

    Article  CAS  Google Scholar 

  23. Iserin L, de Lonlay P, Viot G et al (1998) Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies. Eur J Pediatr 157:881–884

    Article  CAS  Google Scholar 

Download references

Acknowledgments

Authors would like to acknowledge the input of Kiran R. Pandey, MD for help with editing the first draft of the manuscript.

Author information

Authors and Affiliations

  1. Section of Pediatrics and Section of Cardiology, Department of Medicine, Lakes Region General Hospital, Laconia, NH, USA

    Laxmi V Ghimire

  2. Department of Pediatrics, University of New England, Biddeford, ME, USA

    Laxmi V Ghimire & Christie Devoe

  3. Division of Pediatric Cardiology, University of California, San Francisco, San Francisco, CA, USA

    Anita J. Moon-Grady

  4. Division of Pediatric Cardiology, University of California, San Francisco, 550 16th Street 5th Floor, San Francisco, CA, 94158, USA

    Anita J. Moon-Grady

Authors
  1. Laxmi V Ghimire
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Christie Devoe
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Anita J. Moon-Grady
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Anita J. Moon-Grady.

Ethics declarations

Conflict of interest

All authors declare that they have no conflict of interest to disclose.

Ethical Approval

This is a retrospective national database study with de-identified information. Research did not involve human participants and did not require informed consent.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Supplementary material 1 (DOCX 13 kb)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Ghimire, L.V., Devoe, C. & Moon-Grady, A.J. 22q11.2 Deletion Status Influences Resource Utilization in Infants Requiring Repair of Tetralogy of Fallot and Common Arterial Trunk. Pediatr Cardiol 41, 918–924 (2020). https://doi.org/10.1007/s00246-020-02333-y

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00246-020-02333-y

Keywords

Search

Navigation