Skip to main content

Advertisement

SpringerLink
Log in

The Fate of Children with Microdeletion 22q11.2 Syndrome and Congenital Heart Defect: Clinical Course and Cardiac Outcome

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

Abstract

Background

This study aimed to evaluate the cardiac outcome for children with microdeletion 22q11.2 and congenital heart defect (CHD).

Methods

A total of 49 consecutive children with 22q11.2 and CHD were retrospectively identified. The CHD consisted of tetralogy of Fallot and variances (n = 22), interrupted aortic arch (n = 10), ventricular septal defect (n = 8), truncus arteriosus (n = 6), and double aortic arch (n = 1). Extracardiac anomalies were present in 46 of 47 children.

Results

The median follow-up time was 8.5 years (range, 3 months to 23.5 years). Cardiac surgical repair was performed for 35 children, whereas 5 had palliative surgery, and 9 never underwent cardiac surgery. The median age at repair was 7.5 months (range, 2 days to 5 years). The mean hospital stay was 35 days (range, 7–204 days), and the intensive care unit stay was 15 days (range, 3–194 days). Significant postoperative complications occurred for 26 children (74%), and surgery for extracardiac malformations was required for 21 patients (43%). The overall mortality rate was 22% (11/49), with 1-year survival for 86% and 5-year survival for 80% of the patients. A total of 27 cardiac reinterventions were performed for 16 patients (46%) including 15 reoperations and 12 interventional catheterizations. Residual cardiac findings were present in 25 patients (71%) at the end of the follow-up period.

Conclusions

Children with microdeletion 22q11.2 and CHD are at high risk for mortality and morbidity, as determined by both the severity of the cardiac lesions and the extracardiac anomalies associated with the microdeletion.

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

Fig. 1
Fig. 2
Fig. 3

Similar content being viewed by others

References

  1. Anaclerio S, Di Ciommo V, Michielon G, Digilio MC, Formigari R, Picchio FM, Garguilo G, Di Donato R, De Ioris MA, Marino B (2004) Conotruncal heart defects: impact of genetic syndromes on immediate operative mortality. Ital Heart J 5:624–628

    PubMed  Google Scholar 

  2. Barrea C, Yoo SJ, Chitayat D, Valsangiacomo E, Winsor E, Smallhorn JF, Hornberger LK (2003) Assessment of the thymus at echocardiography in fetuses at risk for 22q11.2 deletion. Prenat Diagn 23:9–15

    Article  PubMed  Google Scholar 

  3. Bassett AS, Chow EWC, Husted J, Weksberg R, Caluseriu O, Webb GD, Gatzoulis MA (2005) Clinical features of 78 adults with 22q11 deletion syndrome. Am J Med Gen 138A:307–313

    Article  Google Scholar 

  4. Botto LD, May K, Fernhoff PM, Correa A, Coleman K, Rasmussen SA, Merritt RK, O’Leary LA, Wong LY, Elixson EM, Mahle WT, Campbell RM (2003) A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 112:101–107

    Article  PubMed  Google Scholar 

  5. Boudjemline Y, Fermont L, Le Bidois J, Lyonnet S, Sidi D, Bonnet D (2001) Prevalence of 22q11 deletion in fetuses with conotruncal cardiac defects: a 6-year prospective study. J Pediatr 138:520–524

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  7. Carotti A, Marino B, DiDonato RM (2003) Influence of chromosome 22q11.2 microdeletion on surgical outcome after treatment of tetralogy of Fallot with pulmonary atresia. J Thorac Cardiovasc Surg 126:1666–1667

    Article  PubMed  Google Scholar 

  8. Chessa M, Butera G, Bonhoeffer P, Iserin L, Kachaner J, Lyonnet S, Munnich A, Sidi D, Bonnet D (1998) Relation of genotype 22q11 deletion to phenotype of pulmonary vessels in tetralogy of Fallot and pulmonary atresia-ventricular septal defect. Heart 79:186–190

    PubMed  CAS  Google Scholar 

  9. Cho JM, Puga FJ, Danielson GK, Dearani JA, Mair DD, Hagler DJ, Julsrud PR, Ilstrup DM (2002) Early and long-term results of the surgical treatment of tetralogy of Fallot with pulmonary atresia, with or without major aortopulmonary collateral arteries. J Thorac Cardiovasc Surg 124:70–81

    Article  PubMed  Google Scholar 

  10. Digilio MC, Marino B, Giannotti A, Mingarelli R, Dallapiccola B (1999) Guidelines for 22q11 deletion screening of patients with conotruncal defects. J Am Coll Cardiol 33:1746–1748

    Article  PubMed  CAS  Google Scholar 

  11. Driscoll DA, Spinner NB, Budarf ML, McDonald-McGinn DM, Zackai EH, Goldberg RB, Shprintzen RJ, Saal HM, Zonana J, Jones MC (1992) Deletions and microdeletions of 22q11.2 in velocardiofacial syndrome. Am J Med Genet 44:261–268

    Article  PubMed  CAS  Google Scholar 

  12. Feinstein C, Eliez S, Blasey C, Reiss AL (2002) Psychiatric disorders and behavioural problems in children with velocardiofacial syndrome: usefulness as phenotypic indicators of schizophrenia risk. Biol Psychiatry 51:312–318

    Article  PubMed  Google Scholar 

  13. Fokstuen S, Arbenz U, Artan S, Dutly F, Bauersfeld U, Brecevic L, Fasnacht M, Rothlisberger B, Schinzel A (1998) 22q11.2 deletions in a series of patients with nonselective congenital heart defects: incidence, type of defects, and parental origin. Clin Genet 53:63–69

    Article  PubMed  CAS  Google Scholar 

  14. Goldmuntz E, Driscoll D, Budarf ML, Zackai EH, McDonald-McGinn DM, Biegel JA, Emanuel BS (1993) Mircrodeletion of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. J Med Genet 30:807–812

    PubMed  CAS  Google Scholar 

  15. Griselli M, McGuirk SP, Winlaw DS, Stumper O, de Giovanni JV, Miller P, Dhillon R, Wright JG, Barron DJ, Brawn WJ (2004) The influence of pulmonary artery morphology on the results of operations for major aortopulmonary collateral arteries and complex congenital heart defects. J Thorac Cardiovasc Surg 127:251–258

    Article  PubMed  Google Scholar 

  16. Iserin L, de Lonlay P, Viot G, Sidi D, Kachaner J, Munnich A, Lyonnet S, Vekemans M, Bonnet D (1998) Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies. Eur J Pediatr 157:881–884

    Article  PubMed  CAS  Google Scholar 

  17. Maharasingam M, Ostman-Smith I, Pike MG (2003) A cohort study of neurodevelopmental outcome in children with DiGeorge syndrome following cardiac surgery. Arch Dis Child 88:61–64

    Article  PubMed  CAS  Google Scholar 

  18. Mahle WT, Crisalli J, Coleman K, Campbell RM, Tam VK, Vincent RN, Kanter KR (2003) Deletion of chromosome 22q11.2 and outcome in patients with pulmonary atresia and ventricular septal defect. Ann Thorac Surg 76:567–571

    Article  PubMed  Google Scholar 

  19. Marino B, Digilio MC, Toscano A, Anaclerio S, Giannotti A, Feltri C, de Ioris MA, Angioni A, Dallapiccola B (2001) Anatomic pattern of conotruncal defects associated with deletion 22q11. Genet Med 3:45–48

    PubMed  CAS  Google Scholar 

  20. Matsuoka R, Takao A, Kimura M, Imamura S, Kondo C, Joh-o K, Ikeda K, Nishibatake M, Ando M, Momma K (1994) Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2 deletion. Am J Med Genet 53:285–289

    Article  PubMed  CAS  Google Scholar 

  21. Michielon G, Marino B, Formigari R, Gargiulo G, Picchio F, Digilio MC, Anaclerio S, Oricchio G, Sanders SP, Di Donato RM (2006) Genetic syndromes and outcome after surgical correction of tetralogy of Fallot. Ann Thorac Surg 81:968–975

    Article  PubMed  Google Scholar 

  22. Momma K, Matsuoka R, Takao A (1999) Aortic arch anomalies associated with chromosome 22q11 deletion (CATCH 22). Pediatr Cardiol 20:97–102

    Article  PubMed  CAS  Google Scholar 

  23. Momma K, Takao A, Matsuoka R, Imai Y, Muto A, Osawa M, Takayama M (2001) Tetralogy of Fallot associated with chromosome 22q11.2 deletion in adolescents and young adults. Genet Med 3:56–60

    Article  PubMed  CAS  Google Scholar 

  24. Oskarsdottir S, Persson C, Eriksson BO, Fasth A (2005) Presenting phenotype in 100 children with the 22q11 deletion syndrome. Eur J Pediatr 164:146–153

    Article  PubMed  Google Scholar 

  25. Oskarsdottir S, Vujic M, Fasth A (2004) Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in western Sweden. Arch Dis Child 89:148–151

    Article  PubMed  CAS  Google Scholar 

  26. Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brondum-Nielsen K, Stewart F, Van Essen T, Patton M, Paterson J, Scambler PJ (1997) Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 34:798–804

    Article  PubMed  CAS  Google Scholar 

  27. Serraf A, Lacour-Gayet F, Robottin M, Bruniaux J, Sousa-Uva M, Roussin R, Planche C (1996) Repair of interrupted aortic arch: a ten-year experience. J Thorac Cardiovasc Surg 112:1150–1160

    Article  PubMed  CAS  Google Scholar 

  28. Ullmann MV, Gorenflo M, Sebening C, Ulmer HE, Hagl Sm (2003) Long-term results after repair of truncus arteriosus communis in neonates and infants. Thorac Cardiovasc Surg 51:175–179

    Article  PubMed  CAS  Google Scholar 

  29. Yamagishi H, Maeda J, Higuchi M, Katada Y, Yamagishi C, Matsuo N, Kojima Y (2002) Bronchomalacia associated with pulmonary atresia, ventricular septal defect and major aortopulmonary collateral arteries, and chromosome 22q11.2 deletion. Clin Genet 62:214–219

    Article  PubMed  CAS  Google Scholar 

Download references

Acknowledgments

We thank all the pediatric cardiologists who referred patients to our institution for their help in collecting the data. We also thank Patrick Hargreaves (IMG) for his review of the manuscript and his helpful suggestions.

Author information

Authors and Affiliations

  1. Division of Paediatric Cardiology, University Children’s Hospital Zurich, Steinwiessträsse.75, CH-8032, Zurich, Switzerland

    A. Kyburz, U. Bauersfeld, M. Tomaske & E. R. Valsangiacomo Büchel

  2. Institute of Medical Genetics, University of Zurich, Schorensträsse 16, CH-8603, Schwerzenbach, Switzerland

    A. Schinzel & M. Riegel

  3. Division of Intensive Care, University Children’s Hospital Zurich, Steinwiessträsse 75, CH-8032, Zurich, Switzerland

    M. Hug

Authors
  1. A. Kyburz
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. U. Bauersfeld
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. A. Schinzel
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. M. Riegel
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. M. Hug
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. M. Tomaske
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. E. R. Valsangiacomo Büchel
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to E. R. Valsangiacomo Büchel.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Kyburz, A., Bauersfeld, U., Schinzel, A. et al. The Fate of Children with Microdeletion 22q11.2 Syndrome and Congenital Heart Defect: Clinical Course and Cardiac Outcome. Pediatr Cardiol 29, 76–83 (2008). https://doi.org/10.1007/s00246-007-9074-2

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00246-007-9074-2

Keywords

Search

Navigation