Skip to main content
SpringerLink
Log in

Chromosome 22q11 Deletion in Patients with Truncus Arteriosus

  • Published:
Pediatric Cardiology Aims and scope Submit manuscript

Abstract

The association between truncus arteriosus and chromosome 22q11 deletion is well recognized, but the frequency of a chromosome 22q11 deletion has not been characterized in a large series of patients with truncus arteriosus, and little is known about cardiovascular morphologic features associated with a chromosome 22q11 deletion in this group of patients. We prospectively enrolled 50 consecutive patients with truncus arteriosus who were admitted to The Children’s Hospital of Philadelphia between November 1991 and December 2001. Patients were studied for chromosome 22q11 deletion using fluorescence in situ hybridization. Correlations between anatomic features and chromosome 22q11 deletion were assessed. A chromosome 22q11 deletion was detected in 20 of the 50 patients (40%). Anatomic features that were significantly associated with a chromosome 22q11 deletion included a right-sided aortic arch, an abnormal aortic arch branching pattern, both abnormal sidedness and branching of the aortic arch, and the combined category of either abnormal sidedness or branching of the aortic arch. There was a trend toward the association of discontinuous pulmonary arteries with a chromosome 22q11 deletion. Interruption of the aortic arch and truncal valve morphology and function did not correlate significantly with the presence of a chromosome 22q11 deletion. In conclusion, a chromosome 22q11 deletion is common in patients with truncus arteriosus, and those with abnormal sidedness and/or branching of the aortic arch are significantly more likely to have a deletion. Clinically important anatomic variables, such as abnormalities of the truncal valve and interrupted aortic arch, were not associated with a chromosome 22q11 deletion in this series.

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

  • Y Boudjemline L Ferment J Le Bidois S Lyonnet D Sidi D Bonnet (2001) ArticleTitlePrevalence of 22q11 deletion in fetuses with conotruncal cardiac defects: a 6-year prospective study. J Pediatr 138 520–524 Occurrence Handle10.1067/mpd.2001.112174 Occurrence Handle1:CAS:528:DC%2BD3MXjsFertLc%3D Occurrence Handle11295715

    Article  CAS  PubMed  Google Scholar 

  • CP Brizard A Cochrane C Austin F Nomura TR Karl (1997) ArticleTitleManagement strategy and long term outcome for truncus arteriosus. Eur J Cardiothorac Surg 11 687–696 Occurrence Handle10.1016/S1010-7940(97)01155-X Occurrence Handle1:STN:280:ByiB1MrjvFM%3D Occurrence Handle9151039

    Article  CAS  PubMed  Google Scholar 

  • MC Digilio B Marino A Giannotti B Dallapiccola (1996) ArticleTitleSearch for 22q11 deletion in non-syndromic conotruncal cardiac defects. Eur J Pediatr 155 619–624 Occurrence Handle1:STN:280:BymH38jnslA%3D Occurrence Handle8831090

    CAS  PubMed  Google Scholar 

  • S Fokstuen U Arbenz S Artan et al. (1998) ArticleTitle22q11.2 deletions in a series of patients with non-selective congenital heart defects: incidence, type of defects and parental origin. Clin Genet 53 63–69 Occurrence Handle10.1034/j.1399-0004.1998.531530113.x Occurrence Handle1:STN:280:DyaK1c3gvFOgtw%3D%3D Occurrence Handle9550365

    Article  CAS  PubMed  Google Scholar 

  • IM Frohn-Mulder E Wesby Swaay C Bouwhuis (1999) ArticleTitleChromosome 22q11 deletions in patients with selected outflow tract malformations. Genet Couns 10 35–41 Occurrence Handle1:STN:280:DyaK1M3gslWmsw%3D%3D Occurrence Handle10191427

    CAS  PubMed  Google Scholar 

  • E Goldmuntz BJ Clark LE Mitchell et al. (1998) ArticleTitleFrequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol 32 492–498 Occurrence Handle10.1016/S0735-1097(98)00259-9 Occurrence Handle1:STN:280:DyaK1cznt1WrtA%3D%3D Occurrence Handle9708481

    Article  CAS  PubMed  Google Scholar 

  • FL Hanley MK Heinemann RA Jonas (1993) ArticleTitleRepair of truncus arteriosus in the neonate. J Thorac Cardiovasc Surg 105 1047–1056 Occurrence Handle1:STN:280:ByyB2svovFU%3D Occurrence Handle8501932

    CAS  PubMed  Google Scholar 

  • JIE Hoffman (1995) ArticleTitleIncidence of congenital heart disease: I. Postnatal incidence. Pediatr Cardiol 16 10–13

    Google Scholar 

  • L Iserin P de Lonlay G Viot et al. (1998) ArticleTitlePrevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies. Eur J Pediatr 157 881–884 Occurrence Handle10.1007/s004310050959 Occurrence Handle1:CAS:528:DyaK1cXotVShs7w%3D Occurrence Handle9835429

    Article  CAS  PubMed  Google Scholar 

  • MC Johnson A Hing MK Wood MS Watson (1997) ArticleTitleChromosome abnormalities in congenital heart disease. Am J Med Genet 70 292–298 Occurrence Handle10.1002/(SICI)1096-8628(19970613)70:3<292::AID-AJMG15>3.0.CO;2-G Occurrence Handle1:STN:280:ByiA3s3ktlE%3D Occurrence Handle9188669

    Article  CAS  PubMed  Google Scholar 

  • B Marino MC Digilio B Dallapiccola (1998) ArticleTitleSevere truncal valve dysplasia: association with DiGeorge syndrome? Ann Thorac Surg 66 980 Occurrence Handle1:STN:280:DyaK1cvjvF2itw%3D%3D

    CAS  Google Scholar 

  • B Marino MC Digilio A Toscano et al. (2001) ArticleTitleAnatomic patterns of conotruncal defects associated with deletion 22q11. Genet Med 3 45–48 Occurrence Handle10.1097/00125817-200101000-00010 Occurrence Handle1:STN:280:DC%2BD3Mris1Kqug%3D%3D Occurrence Handle11339377

    Article  CAS  PubMed  Google Scholar 

  • DM McDonald-McGinn D LaRossa E Goldmuntz et al. (1997) ArticleTitleThe 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. Genet Testing 1 99–108 Occurrence Handle1:STN:280:DyaK1Mzptlyquw%3D%3D

    CAS  Google Scholar 

  • Y Mehraein CF Wippeman I Michel-Behnke et al. (1999) ArticleTitleMicrodeletion 22q11 in complex cardiovascular malformations. Hum Genet 99 433–442 Occurrence Handle10.1007/s004390050385

    Article  Google Scholar 

  • K Momma M Ando R Matsuoka et al. (1997) ArticleTitleTruncus arteriosus communis associated with chromosome 22q11 deletion. J Am Coll Cardiol 30 1067–1071 Occurrence Handle10.1016/S0735-1097(97)00240-4 Occurrence Handle1:STN:280:ByiH283islU%3D Occurrence Handle9316541

    Article  CAS  PubMed  Google Scholar 

  • AK Ryan JA Goodship DI Wilson et al. (1997) ArticleTitleSpectrum of clinical features associated with interstitial chromosome 22q11 deletions: an European collaborative study. J Med Genet 34 798–804 Occurrence Handle1:STN:280:DyaK1c%2FhtVaqsQ%3D%3D Occurrence Handle9350810

    CAS  PubMed  Google Scholar 

  • PJ Scambler (2000) ArticleTitleThe chromosome 22q11 deletion syndromes. Hum Mol Genet 9 2421–2426 Occurrence Handle10.1093/hmg/9.16.2421 Occurrence Handle1:CAS:528:DC%2BD3cXnslGqsL4%3D Occurrence Handle11005797

    Article  CAS  PubMed  Google Scholar 

  • K Takahashi S Kido K Hoshino K Ogawa H Ohashi Y Fukushima (1995) ArticleTitleFrequency of a 22q11 deletion in patients with conotruncal cardiac malformations: a prospective study. Eur J Pediatr 154 878–881 Occurrence Handle10.1007/s004310050308 Occurrence Handle1:STN:280:BymC2cbptV0%3D Occurrence Handle8582397

    Article  CAS  PubMed  Google Scholar 

  • LD Thompson DB McElhinney VM Reddy E Petrossian NH Silverman FL Hanley (2001) ArticleTitleNeonatal repair of truncus arteriosus: continuing improvement in outcomes. Ann Thorac Surg 72 391–395 Occurrence Handle10.1016/S0003-4975(01)02796-5 Occurrence Handle1:STN:280:DC%2BD3MvntFalsg%3D%3D Occurrence Handle11515872

    Article  CAS  PubMed  Google Scholar 

  • AH Trainer N Morrison A Dunlop N Wilson J Tolmie (1996) ArticleTitleChromosome 22q11 microdeletions in tetralogy of Fallot. Arch Dis Child 74 62–63 Occurrence Handle1:STN:280:BymB28vjsFw%3D Occurrence Handle8660052

    CAS  PubMed  Google Scholar 

  • LHS Van Mierop LM Kutsche (1986) ArticleTitleCardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor. Am J Cardiol 58 133–137 Occurrence Handle3728313

    PubMed  Google Scholar 

  • R Van Praagh S Van Praagh (1965) ArticleTitleThe anatomy of common aorticopulmonary trunk (truncus arteriosus communis) and its embryologic implications: a study of 57 necropsy cases. Am J Cardiol 16 406–425 Occurrence Handle1:STN:280:CCmD3crmtFA%3D Occurrence Handle5828135

    CAS  PubMed  Google Scholar 

  • SA Webber E Hatchwell JCK Barber et al. (1996) ArticleTitleImportance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: a three-year prospective study. J Pediatr 129 26–32 Occurrence Handle1:STN:280:BymA2M7gt1Y%3D Occurrence Handle8757559

    CAS  PubMed  Google Scholar 

  • JM Williams M de Leeuw MD Black RM Freedom WG Williams BW McCrindle (1999) ArticleTitleFactors associated with outcomes of persistent truncus arteriosus. J Am Coll Cardiol 34 545–553 Occurrence Handle10.1016/S0735-1097(99)00227-2 Occurrence Handle1:STN:280:DyaK1Mzms1OrsQ%3D%3D Occurrence Handle10440171

    Article  CAS  PubMed  Google Scholar 

  • DI Wilson J Burn P Scambler J Goodship (1993) ArticleTitleDiGeorge syndrome: part of CATCH-22. J Med Genet 30 852–856 Occurrence Handle1:STN:280:ByuD2cjgtFA%3D Occurrence Handle8230162

    CAS  PubMed  Google Scholar 

Download references

Acknowledgments

This study was supported in part by grants P50 HL62177 and DC02027 from the National Institutes of Health.

Author information

Authors and Affiliations

  1. Division of Cardiology, The Children’s Hospital of Philadelphia, 3516 Civic Center Boulevard, Philadelphia, PA 19104-4318, USA

    D. B. McElhinney & E. Goldmuntz

  2. Division of Human Genetics and Molecular Biology, The Children’s Hospital of Philadelphia, 3516 Civic Center Boulevard, Philadelphia, PA 19104-4318, USA

    D. A. Driscoll & B. S. Emanuel

  3. Department of Pediatrics, University of Pennsylvania Medical Center, Philadelphia, PA 19104, USA

    D. B. McElhinney, B. S. Emanuel & E. Goldmuntz

  4. Department of Obstetrics and Gynecology, University of Pennsylvania Medical Center, Philadelphia, PA 19104, USA

    D. A. Driscoll

Authors
  1. D. B. McElhinney
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. D. A. Driscoll
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. B. S. Emanuel
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. E. Goldmuntz
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to E. Goldmuntz.

Rights and permissions

Reprints and permissions

About this article

Cite this article

McElhinney, D., Driscoll, D., Emanuel, B. et al. Chromosome 22q11 Deletion in Patients with Truncus Arteriosus . Pediatr Cardiol 24, 569–573 (2003). https://doi.org/10.1007/s00246-003-0441-3

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00246-003-0441-3

Keywords

Search

Navigation