Skip to main content

Advertisement

SpringerLink
Log in

A rare association of interrupted aortic arch type C and microdeletion 22q11.2

  • Short Report
  • Published:
European Journal of Pediatrics Aims and scope Submit manuscript

Abstract

Microdeletion 22q11.2 is associated with a variety of findings, and the most common are cardiac defects. It is very frequently associated with interrupted aortic arch (IAA) type B and very rarely with type A and type C. Here we report the first case of IAA type C associated with 22q11.2 deletion in Serbia and, to the best of our knowledge, the fourth case described worldwide so far. By this report we would like to point out that all patients with IAA type C who have additional features specific for 22q11.2 microdeletion syndrome should be screened for the presence of this deletion.

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

Abbreviations

IAA:

interrupted aortic arch

FISH:

fluorescence in situ hybridization

References

  1. Agnoletti G, Borghi A, Annecchino F (2001) A rare form of interrupted aortic arch. Ital Heart J 2(3):228–230

    PubMed  CAS  Google Scholar 

  2. Digilio M, Marino B, Capolino R, Dallapiccola B (2005) Clinical manifestations of deletion 22q11.2 syndrome (DiGeorge/Velo-Cardio-Facial syndrome). Images Paediatr Cardiol 23:23–34

    Google Scholar 

  3. Digilio MC, Angioni A, De Santis M, Lombardo A, Giannotti A, Dallapiccola B, Marino B (2003) Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies. Clin Genet 63(4):308–313

    Article  PubMed  CAS  Google Scholar 

  4. 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(6):1746–1748

    Article  PubMed  CAS  Google Scholar 

  5. Firth HV, Hurst JA, Hall JG (2005) Oxford desk reference : clinical genetics, 1st edn. Oxford University Press, Oxford, New York

    Google Scholar 

  6. Freedom RM, Mawson JB, Shi-Joon Y, Benson LN (1997) Congenital heart disease: textbook of angiocardiography, 1st edn. Futura Pub. Co., Armonk, NY

    Google Scholar 

  7. Fujii I, Ueno Y, Kurano R, Goto Y (2005) Interrupted aortic arch type C associated with DiGeorge syndrome in 22q11.2 deletion: first case detected in Japan. Pediatr Int 47(6):698–700

    Article  PubMed  Google Scholar 

  8. Goldmuntz E, Clark BJ, Mitchell LE, Jawad AF, Cuneo BF, Reed L, McDonald-McGinn D, Chien P, Feuer J, Zackai EH, Emanuel BS, Driscoll DA (1998) Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol 32(2):492–498

    Article  PubMed  CAS  Google Scholar 

  9. Leana-Cox J, Pangkanon S, Eanet KR, Curtin MS, Wulfsberg EA (1996) Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: report of five families with a review of the literature. Am J Med Genet 65(4):309–316

    Article  PubMed  CAS  Google Scholar 

  10. Marino B, Digilio MC, Persiani M, Di Donato R, Toscano A, Giannotti A, Dallapiccola B (1999) Deletion 22q11 in patients with interrupted aortic arch. Am J Cardiol 84(3):360–361, A369

    Article  PubMed  CAS  Google Scholar 

  11. McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A, Finucane B, Driscoll DA, Emanuel BS, Zackai EH (2001) Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net! Genet Med 3(1):23–29

    Article  PubMed  CAS  Google Scholar 

  12. Oskarsdottir S, Persson C, Eriksson BO, Fasth A (2005) Presenting phenotype in 100 children with the 22q11 deletion syndrome. Eur J Pediatr 164(3):146–153

    Article  PubMed  Google Scholar 

  13. Rauch A, Hofbeck M, Leipold G, Klinge J, Trautmann U, Kirsch M, Singer H, Pfeiffer RA (1998) Incidence and significance of 22q11.2 hemizygosity in patients with interrupted aortic arch. Am J Med Genet 78(4):322–331

    Article  PubMed  CAS  Google Scholar 

  14. 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, Scambler PJ (1997) Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 34(10):798–804

    Article  PubMed  CAS  Google Scholar 

  15. Thompson PW, Davies SJ (1998) Frequency of inherited deletions of 22q11. J Med Genet 35(9):789

    PubMed  CAS  Google Scholar 

Download references

Acknowledgements

This work was supported by the Ministry of Science, Republic of Serbia (D.D. and M.S., grant no. 143028).

Author information

Authors and Affiliations

  1. University Children’s Hospital, Tirsova 10, 11000, Belgrade, Serbia

    Goran Cuturilo, Ida Jovanovic, Milan Djukic, Slobodanka Miletic-Grkovic & Marina Atanaskovic-Markovic

  2. Institute of Molecular Genetics and Genetic Engineering, Vojvode Stepe 444a, P.O. BOX 23, 11010, Belgrade, Serbia

    Danijela Drakulic & Milena Stevanovic

Authors
  1. Goran Cuturilo
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Danijela Drakulic
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Milena Stevanovic
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Ida Jovanovic
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Milan Djukic
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Slobodanka Miletic-Grkovic
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Marina Atanaskovic-Markovic
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Goran Cuturilo.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Cuturilo, G., Drakulic, D., Stevanovic, M. et al. A rare association of interrupted aortic arch type C and microdeletion 22q11.2. Eur J Pediatr 167, 1195–1198 (2008). https://doi.org/10.1007/s00431-007-0632-7

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00431-007-0632-7

Keywords

Search

Navigation