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Pediatric Cardiology

, Volume 38, Issue 8, pp 1680–1685 | Cite as

The Impact of 22q11.2 Microdeletion on Cardiac Surgery Postoperative Outcome

  • Goran CuturiloEmail author
  • Danijela Drakulic
  • Ida Jovanovic
  • Slobodan Ilic
  • Jasna Kalanj
  • Irena Vulicevic
  • Misela Raus
  • Dejan Skoric
  • Marija Mijovic
  • Biljana Medjo
  • Snezana Rsovac
  • Milena Stevanovic
Original Article

Abstract

22q11.2 microdeletion is the most common microdeletion in humans. The purpose of this study was to evaluate postoperative outcome in children with 22q11.2 microdeletion who had undergone complete surgical correction of a congenital heart defect. The study included 34 patients who underwent complete correction of conotruncal heart defects. Of these, 17 patients diagnosed with 22q11.2 microdeletion represent the investigated group. Another 17 patients without 22q11.2 microdeletion represent the control group. Investigated and control groups differ significantly for total length of stay in the hospital (average 37.35 and 14.12 days, respectively); length of postoperative stay in the intensive care unit (average 10.82 and 6.76 days, respectively); sepsis (eight and two patients, respectively); administration of antibiotics (15 and seven patients, respectively); duration of antibiotic therapy (average 17.65 and 14.59 days, respectively); occurrence of hypocalcemia (16 and 0 patients, respectively); and initiation of peroral nutrition during the postoperative course (average 10.29 and 3.88 days, respectively). No difference was found for duration of ventilatory support (average 6.12 and 4.24 days, respectively), administration of total parenteral nutrition, and postoperative mortality rate. The study results suggest that genotype of 22q11.2 microdeletion affects postoperative outcome after cardiac surgery. Possible targets for intervention in postoperative intensive care management are prevention and treatment of systemic infections, monitoring, and treatment of hypocalcemias, rational administration of antibiotics and careful planning of nutrition. Consequently, this could shorten patients’ intensive care stay and overall duration of hospitalization.

Keywords

22q11.2 deletion syndrome Congenital heart defect Intensive care Pediatrics Postoperative care 

Notes

Acknowledgements

This work was supported by the Ministry of Education, Science and Technological Development, Republic of Serbia [Grant Number 173051 to DD and MS].

Compliance with Ethical Standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical Approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

Informed Consent

Informed consent was obtained from all individual participants included in the study.

References

  1. 1.
    Fernandez L, Lapunzina P, Arjona D, Lopez Pajares I, Garcia-Guereta L, Elorza D, Burgueros M, De Torres ML, Mori MA, Palomares M, Garcia-Alix A, Delicado A (2005) Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome. Clin Genet 68(4):373–378CrossRefPubMedGoogle Scholar
  2. 2.
    Firth H, Hurst J, Hall J (2005) Oxford desk reference: clinical genetics. Oxford University Press, OxfordGoogle Scholar
  3. 3.
    Hennekam R, Allanson J, Krantz I, Gorlin R (2010) Gorlin’s syndromes of the head and neck. Oxford University Press, OxfordGoogle Scholar
  4. 4.
    Carotti A, Digilio MC, Piacentini G, Saffirio C, Di Donato RM, Marino B (2008) Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome. Dev Disabil Res Rev 14(1):35–42CrossRefPubMedGoogle Scholar
  5. 5.
    Jatana V, Gillis J, Webster BH, Ades LC (2007) Deletion 22q11.2 syndrome—implications for the intensive care physician. Pediatr Crit Care Med 8(5):459–463CrossRefPubMedGoogle Scholar
  6. 6.
    Kyburz A, Bauersfeld U, Schinzel A, Riegel M, Hug M, Tomaske M, Valsangiacomo Buchel ER (2008) The fate of children with microdeletion 22q11.2 syndrome and congenital heart defect: clinical course and cardiac outcome. Pediatr Cardiol 29(1):76–83CrossRefPubMedGoogle Scholar
  7. 7.
    McDonald R, Dodgen A, Goyal S, Gossett JM, Shinkawa T, Uppu SC, Blanco C, Garcia X, Bhutta AT, Imamura M, Gupta P (2013) Impact of 22q11.2 deletion on the postoperative course of children after cardiac surgery. Pediatr Cardiol 34(2):341–347CrossRefPubMedGoogle Scholar
  8. 8.
    Mercer-Rosa L, Pinto N, Yang W, Tanel R, Goldmuntz E (2013) 22q11.2 Deletion syndrome is associated with perioperative outcome in tetralogy of Fallot. J Thorac Cardiovasc Surg 146(4):868–873CrossRefPubMedPubMedCentralGoogle Scholar
  9. 9.
    O’Byrne ML, Yang W, Mercer-Rosa L, Parnell AS, Oster ME, Levenbrown Y, Tanel RE, Goldmuntz E (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(4):1597–1605CrossRefPubMedPubMedCentralGoogle Scholar
  10. 10.
    Shen L, Gu H, Wang D, Yang C, Xu Z, Jing H, Jiang Y, Ding Y, Hou H, Ge Z, Chen S, Mo X, Yi L (2011) Influence of chromosome 22q11.2 microdeletion on postoperative calcium level after cardiac-correction surgery. Pediatr Cardiol 32(7):904–909CrossRefPubMedGoogle Scholar
  11. 11.
    Ziolkowska L, Kawalec W, Turska-Kmiec A, Krajewska-Walasek M, Brzezinska-Rajszys G, Daszkowska J, Maruszewski B, Burczynski P (2008) Chromosome 22q11.2 microdeletion in children with conotruncal heart defects: frequency, associated cardiovascular anomalies, and outcome following cardiac surgery. Eur J Pediatr 167(10):1135–1140CrossRefPubMedGoogle Scholar
  12. 12.
    Cuturilo G, Drakulic D, Krstic A, Gradinac M, Ilisic T, Parezanovic V, Milivojevic M, Stevanovic M, Jovanovic I (2013) 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 23(2):181–188CrossRefPubMedGoogle Scholar
  13. 13.
    Yamagishi H (2002) The 22q11.2 deletion syndrome. Keio J Med 51(2):77–88CrossRefPubMedGoogle Scholar
  14. 14.
    Harper P (2004) Practical genetic counselling. Arnold, LondonGoogle Scholar
  15. 15.
    Hirasaki S, Murakami K, Mizushima T, Ohmori K, Fujita S, Hanayama Y, Kanamori T, Yokota R, Ebara H, Kusano N, Kudo C, Yamaguchi T, Akagi T, Koide N (2012) Successful treatment of sepsis caused by Staphylococcus lugdunensis in an adult with 22q11.2 deletion syndrome. Intern Med 51(4):377–380CrossRefPubMedGoogle Scholar
  16. 16.
    Jawad AF, McDonald-Mcginn DM, Zackai E, Sullivan KE (2001) Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). J Pediatr 139(5):715–723CrossRefPubMedGoogle Scholar
  17. 17.
    Jones K (2006) Smith’s recognizable patterns of human malformation. Elsevier, PhiladelphiaGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2017

Authors and Affiliations

  • Goran Cuturilo
    • 1
    • 2
    Email author
  • Danijela Drakulic
    • 3
  • Ida Jovanovic
    • 1
    • 4
  • Slobodan Ilic
    • 1
    • 5
  • Jasna Kalanj
    • 6
  • Irena Vulicevic
    • 1
    • 5
  • Misela Raus
    • 7
  • Dejan Skoric
    • 1
    • 8
  • Marija Mijovic
    • 2
  • Biljana Medjo
    • 1
    • 6
  • Snezana Rsovac
    • 6
  • Milena Stevanovic
    • 3
  1. 1.Faculty of MedicineUniversity of BelgradeBelgradeSerbia
  2. 2.Department of Medical GeneticsUniversity Children’s HospitalBelgradeSerbia
  3. 3.Institute of Molecular Genetics and Genetic EngineeringUniversity of BelgradeBelgradeSerbia
  4. 4.Department of CardiologyUniversity Children’s HospitalBelgradeSerbia
  5. 5.Department of Cardiac SurgeryUniversity Children’s HospitalBelgradeSerbia
  6. 6.Department of Pediatric Intensive CareUniversity Children’s HospitalBelgradeSerbia
  7. 7.Department of NeonatologyUniversity Children’s HospitalBelgradeSerbia
  8. 8.Department of HematologyUniversity Children’s HospitalBelgradeSerbia

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