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Pediatric Cardiology

, Volume 32, Issue 7, pp 904–909 | Cite as

Influence of Chromosome 22q11.2 Microdeletion on Postoperative Calcium Level After Cardiac-Correction Surgery

  • Li Shen
  • Haitao Gu
  • Dongjing Wang
  • Chi Yang
  • Zhengfeng Xu
  • Hua Jing
  • Yongzhong Jiang
  • Yibing Ding
  • Huacheng Hou
  • Zhijuan Ge
  • Shilin Chen
  • Xuming MoEmail author
  • Long YiEmail author
Original Article

Abstract

One of the most common constitutional chromosomal abnormalities, 22q11.2 microdeletion (del22q11.2) syndrome has diverse medical complications, such as congenital heart defect, hypocalcaemia, and immune deficiency, which require coordinated multidisciplinary care. Until now, the natural history of hypocalcaemia in chromosome del22q11.2 syndrome had been only partly documented, but there has been limited recognition of the importance of calcium status during the postoperative period when altered calcium status may be associated with serious complications. The goals of our study were (1) to delineate the clinical characteristics of serum calcium in patients with del22q11.2 during the postoperative period and (2) to make recommendations for the investigation and management of del22q11.2 patients after cardiac correction. This study included 22 children diagnosed with del22q11.2 syndrome and 110 children without del22q11.2 syndrome from Nanjing Children’s Hospital. Clinical examinations and blood ionized calcium testing were reviewed retrospectively. A comparative study of postoperative calcium levels and complications of del22q11.2 patients with nondeletion patients was performed. Association between postoperative hypocalcaemia and adverse incidents after cardiac correction was also examined. Postoperative hypocalcaemia was observed among 86.4% of del22q11.2 patients and among only 47.3% of nondeletion subjects. The difference was statistically significant (P = 0.0017). Patients with del22q11.2 syndrome also had a much sharper decrease in serum calcium levels during the first 6 h after surgery than nondeletion patients. Postoperative clinical analysis showed that del22q11.2 patients with hypocalcaemia experience more postoperative complications (18 of 19) and greater mortality (5 of 19) after cardiac correction than del22q11.2 patients without normal calcium levels and nondeletion patients. Del22q11.2 children have high susceptibility of hypocalcaemia during the postoperative period, and this low calcium status after cardiac correction may be associated with significant risk of postoperative complications and mortality in patients with del22q11.2.

Keywords

Chromosome 22q11.2 microdeletion Hypocalcaemia Cardiac surgery Congenital heart defects 

Abbreviations

CHD

Congenital heart defect

PTH

Parathyroid hormone

CFMSA

Competitive fluorescent multiplex STRP assay

TOF

Tetralogy of Fallot

VSD

Ventricular septal defect

FISH

Fluorescent in situ hybridization

SPSS

Statistical Package for the Social Sciences

CPB

Cardiopulmonary bypass

Notes

Acknowledgments

We thank all of the CHD patients and family members who participated in the studies. This work was supported by grants from the Foundation of Nanjing Medical, Pharmaceutical and Health Research Program (Grant No. YKK07052), National Natural Science Foundation of China (Grants No. 30772156 and 81070241), and Nature Science Foundation of Jiangsu Province (Grants No. BK2007011 and SBK200921216).

References

  1. 1.
    Anaclerio S, Di CV, Michielon G, Digilio MC, Formigari R, Picchio FM et al (2004) Conotruncal heart defects: impact of genetic syndromes on immediate operative mortality. Ital Heart J 5:624–628PubMedGoogle Scholar
  2. 2.
    Brauner R, de Le Harivel GA, Kindermans C, Le BJ, Prieur M, Lyonnet S et al (2003) Parathyroid function and growth in 22q11.2 deletion syndrome. J Pediatr 142:504–508PubMedCrossRefGoogle Scholar
  3. 3.
    Conley ME, Beckwith JB, Mancer JF, Tenckhoff L (1979) The spectrum of the DiGeorge syndrome. J Pediatr 94:883–890PubMedCrossRefGoogle Scholar
  4. 4.
    Cuneo BF, Langman CB, Ilbawi MN, Ramakrishnan V, Cutilletta A, Driscoll DA (1996) Latent hypoparathyroidism in children with conotruncal cardiac defects. Circulation 93:1702–1708PubMedGoogle Scholar
  5. 5.
    Cuneo BF, Driscoll DA, Gidding SS, Langman CB (1997) Evolution of latent hypoparathyroidism in familial 22q11 deletion syndrome. Am J Med Genet 69:50–55PubMedCrossRefGoogle Scholar
  6. 6.
    de Andrade SA, Salles JM, Soares JM, de Moraes GM, Carvalho JR, Rocha PR (2010) Course of ionized calcium after thyroidectomy. World J Surg 34:987–992CrossRefGoogle Scholar
  7. 7.
    DiGeorge AM (1965) Discussions on a new concept of the cellular basis of immunity. J Pediatr 67:907–908CrossRefGoogle Scholar
  8. 8.
    Donald-McGinn DM, Kirschner R, Goldmuntz E, Sullivan K, Eicher P, Gerdes M et al (1999) The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns 10:11–24Google Scholar
  9. 9.
    Dyke PC, Yates AR, Cua CL, Hoffman TM, Hayes J, Feltes TF et al (2007) Increased calcium supplementation is associated with morbidity and mortality in the infant postoperative cardiac patient. Pediatr Crit Care Med 8:254–257PubMedCrossRefGoogle Scholar
  10. 10.
    Formigari R, Michielon G, Digilio MC, Piacentini G, Carotti A, Giardini A et al (2009) Genetic syndromes and congenital heart defects: How is surgical management affected? Eur J Cardiothorac Surg 35:606–614PubMedCrossRefGoogle Scholar
  11. 11.
    Goodship J, Cross I, LiLing J, Wren C (1998) A population study of chromosome 22q11 deletions in infancy. Arch Dis Child 79:348–351PubMedCrossRefGoogle Scholar
  12. 12.
    Jacobs JP (2008) Introduction—databases and the assessment of complications associated with the treatment of patients with congenital cardiac disease. Cardiol Young 18(Suppl 2):1–37Google Scholar
  13. 13.
    Kapadia CR, Kim YE, Donald-McGinn DM, Zackai EH, Katz LE (2008) Parathyroid hormone reserve in 22q11.2 deletion syndrome. Genet Med 10:224–228PubMedCrossRefGoogle Scholar
  14. 14.
    Kobrynski LJ, Sullivan KE (2007) Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet 370:1443–1452PubMedCrossRefGoogle Scholar
  15. 15.
    Maalouf NM, Sakhaee K, Odvina CV (2004) A case of chromosome 22q11 deletion syndrome diagnosed in a 32-year-old man with hypoparathyroidism. J Clin Endocrinol Metab 89:4817–4820PubMedCrossRefGoogle Scholar
  16. 16.
    Michielon G, Marino B, Formigari R, Gargiulo G, Picchio F, Digilio MC et al (2006) Genetic syndromes and outcome after surgical correction of tetralogy of Fallot. Ann Thorac Surg 81:968–975PubMedCrossRefGoogle Scholar
  17. 17.
    Mussai FJ, Cunningham LC, Rezvani G, Stratakis CA, Reynolds JC, Nesterova G et al (2008) Hypocalcemia in a patient with osteosarcoma and 22q11.2 deletion syndrome. J Pediatr Hematol Oncol 30:612–617PubMedCrossRefGoogle Scholar
  18. 18.
    Reddy VM, McElhinney DB, Amin Z, Moore P, Parry AJ, Teitel DF et al (2000) Early and intermediate outcomes after repair of pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries: experience with 85 patients. Circulation 101:1826–1832PubMedGoogle Scholar
  19. 19.
    Robertie PG, Butterworth JF, Royster RL, Prielipp RC, Dudas L, Black KW et al (1991) Normal parathyroid hormone responses to hypocalcemia during cardiopulmonary bypass. Anesthesiology 75:43–48PubMedCrossRefGoogle Scholar
  20. 20.
    Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H et al (1997) Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 34:798–804PubMedCrossRefGoogle Scholar
  21. 21.
    Taylor SC, Morris G, Wilson D, Davies SJ, Gregory JW (2003) Hypoparathyroidism and 22q11 deletion syndrome. Arch Dis Child 88:520–522PubMedCrossRefGoogle Scholar
  22. 22.
    Yang C, Shen L, Xu Z, Wu X, Mo X, Zhang J, Wang D et al (2009) A novel competitive fluorescent multiplex STR polymorphism assay for rapid, reliable and single-tube screening of 22q11.2 copy-number aberrations. Electrophoresis 30:465–471PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • Li Shen
    • 1
    • 2
    • 5
  • Haitao Gu
    • 2
    • 3
  • Dongjing Wang
    • 4
  • Chi Yang
    • 1
    • 4
  • Zhengfeng Xu
    • 5
  • Hua Jing
    • 6
  • Yongzhong Jiang
    • 2
  • Yibing Ding
    • 1
  • Huacheng Hou
    • 1
  • Zhijuan Ge
    • 1
  • Shilin Chen
    • 4
    • 6
  • Xuming Mo
    • 2
    Email author
  • Long Yi
    • 1
    Email author
  1. 1.Department of PathologyNanjing University Medical SchoolNanjingPeople’s Republic of China
  2. 2.Department of Cardiothoracic SurgeryNanjing Children’s Hospital, Nanjing Medical UniversityNanjingPeople’s Republic of China
  3. 3.Department of Cardiothoracic SurgeryFirst Affiliated Hospital of Nanjing Medical UniversityNanjingPeople’s Republic of China
  4. 4.Department of Cardiothoracic SurgeryDrum Tower Hospital Affiliated to Nanjing University Medical SchoolNanjingPeople’s Republic of China
  5. 5.Center of Prenatal DiagnosisNanjing Maternity and Child Health Hospital, Nanjing Medical UniversityNanjingPeople’s Republic of China
  6. 6.Department of Cardiothoracic SurgeryJinling Hospital, Clinical Medicine School, Nanjing UniversityNanjingPeople’s Republic of China

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