Fetal Diagnosis and Therapy

Original Paper

Fetal and Neonatal Diagnosis of Interrupted Aortic Arch: Associations and Outcomes

Axt-Fliedner R.a · Kawecki A.a · Enzensberger C.a · Wienhard J.a · Degenhardt J.a · Schranz D.a, b · Vogel M.a, b

Author affiliations

aFetal Heart Centre, Department of Obstetrics and Gynecology, Justus Liebig University and bDepartment of Pediatric Cardiology, Justus Liebig University and Centre for Congenital Heart Defects, Children’s Hospital Giessen, Giessen, Germany

Related Articles for ""

Fetal Diagn Ther 2011;30:299–305

Log in to MyKarger to check if you already have access to this content.


Buy

  • FullText & PDF
  • Unlimited re-access via MyKarger
  • Unrestricted printing, no saving restrictions for personal use
read more

CHF 38.00 *
EUR 35.00 *
USD 39.00 *

Select

KAB

Buy a Karger Article Bundle (KAB) and profit from a discount!


If you would like to redeem your KAB credit, please log in.


Save over 20% compared to the individual article price.

Learn more

Rent/Cloud

  • Rent for 48h to view
  • Buy Cloud Access for unlimited viewing via different devices
  • Synchronizing in the ReadCube Cloud
  • Printing and saving restrictions apply

Rental: USD 8.50
Cloud: USD 20.00

Select

Subscribe

  • Access to all articles of the subscribed year(s) guaranteed for 5 years
  • Unlimited re-access via Subscriber Login or MyKarger
  • Unrestricted printing, no saving restrictions for personal use
read more

Subcription rates


Select
* The final prices may differ from the prices shown due to specifics of VAT rules.

Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: March 01, 2011
Accepted: September 12, 2011
Published online: November 17, 2011
Issue release date: December 2011

Number of Print Pages: 7
Number of Figures: 3
Number of Tables: 4

ISSN: 1015-3837 (Print)
eISSN: 1421-9964 (Online)

For additional information: https://www.karger.com/FDT

Abstract

Objective: Interrupted aortic arch (IAA) is a rare but serious anomaly. Prenatal diagnosis is challenging and published data are limited. The aim of the study was to review the data of fetuses and neonates diagnosed with IAA during a 16-year period at Children’s Hospital Giessen. Methods: Retrospective ascertainment of 8 fetuses and 20 neonates with a confirmed diagnosis of IAA from 1994 to 2010 by reviewing the hospital database of the cardiovascular program of the prenatal and pediatric cardiology clinics at the University Hospital Giessen. Results: Eighteen cases with IAA type B and 10 cases with IAA type A were found. After 2005, prenatal diagnosis was achieved in 8 cases and postnatal imaging confirmed IAA in all 8 neonates. Twenty-nine percent of individuals had a chromosomal anomaly, with microdeletion 22q11.2 being the most common abnormality (n = 6, 21%). In 46% (13/28) other complex cardiac anomalies were present. Mortality after surgery was 18%. Long-term morbidity and mortality was due to neurological impairment in the presence of microdeletion 22q11.2 and the need of surgical or catheter re-intervention. Conclusion: Despite the difficulties and challenges in diagnosis, the prenatal detection rate of IAA is increasing. Associated complex cardiac and chromosomal abnormalities influence the outcome of patients with IAA and are important issues of parental counseling.

© 2011 S. Karger AG, Basel




Related Articles:


References

  1. Hoffman JI, Kaplan S: The incidence of congenital heart disease. J Am Coll Cardiol 2002;39:1890–1900.
  2. Celoria GC, Patton RB: Congenital absence of the aortic arch. Am Heart J 1959;58:408.
    External Resources
  3. Schreiber C, Mazzitelli D, Haehnel JC, Lorenz HP, Meisner H: The interrupted aortic arch: an overview after 20 years of surgical treatment. Eur J Cardiothorac Surg 1997;12:466–469.
  4. McCrindle BW, Tchervenkov CI, Konstantinov IE, Williams WG, Neirotti RA, Jacobs ML, Blackstone EH: Congenital Heart Surgeons Society. Risk factors associated with mortality and interventions in 472 neonates with interrupted aortic arch: a Congenital Heart Surgeons Society study. J Thorac Cardiovasc Surg 2005;129:343–350.
  5. Brown JW, Ruzmetov M, Okada Y, Vijay P, Rodefeld MD, Turrentine MW: Outcomes in patients with interrupted aortic arch and associated anomalies: a 20-year experience. Eur J Cardiothorac Surg 2006;29:666–673.
  6. Serraf A, Lacour-Gayet F, Robotin M, Bruniaux J, Sousa-Uva M, Roussin R, Planche C: Repair of interrupted aortic arch: a ten-year experience. J Thorac Cardiovasc Surg 1996;112:1150–1160.
  7. Tlaskal T, Hucin B, Kucera V, Vojtovic P, Gebauer R, Chaloupecky V, Skovranek J: Repair of persistent truncus arteriosus with interrupted aortic arch. Eur J Cardiothorac Surg 2005;28:736–741.
  8. Tlaskal T, Hucin B, Kucera V,Hruda J, Marek J, Chaloupecky V, Kostelka M, Janousek J, Skovranek J: Results of primary and two-stage repair of interrupted aortic arch. Eur J Cardiothorac Surg 1998;14:235–242.
  9. Tlaskal T, Chaloupecky V, Marek J, Kucera V, Janousek J, Skovranek J, Reich O: Primary repair of interrupted aortic arch and associated heart lesions in newborns. J Cardiovasc Surg (Torino) 1997;38:113–118.
  10. Van Mierop LH, Kutsche LM: Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor. Am J Cardiol 1986;58:133–137.
  11. Goldmuntz E, Clark BJ, Mitchell LE: Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol 1998;32:492–498.
  12. Marino B, Digilio MC, Persiani M: Deletion 22q11 in patients with interrupted aortic arch. Am J Cardiol 1999;84:360–361.
  13. Zhang Z, Huynh T, Baldini A: Mesodermal expression of Tbx1 is necessary and sufficient for pharyngeal arch and cardiac outflow tract development. Development 2006;133:3587–3595.
  14. Jerome LA, Papaioannou VE: DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat Genet 2001;27:286–291.
  15. Lindsay EA, Vitelli F, Su H: Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice. Nature 2001;410:97–101.
  16. Merscher S, Funke B, Epstein JA: TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell 2001;104:619–629.
  17. Yagi H, Furutani Y, Hamada H: Role of TBX1 in human del22q11.2 syndrome. Lancet 2003;362:1366–1373.
  18. Volpe P, Tuo G, De Robertis V, Campobasso G, Marasini M, Tempesta A, Gentile M, Rembouskos G: Fetal interrupted aortic arch: 2D-4D echocardiography, associations and outcome. Ultrasound Obstet Gynecol 2010;35:302–309.
  19. Vogel M, Vernon MM, McElhinney DB, Brown DW, Colan SD, Tworetzky W: Fetal diagnosis of interrupted aortic arch. Am J Cardiol 2010;105:727–734.
  20. Gestational age based Z-scores from normative data collected at Children’s Hospital Boston. http://www.parameterz.com.
  21. Sklansky MS, Berman DP, Pruetz JD, Chang RK: Prenatal screening for major congenital heart disease: superiority of outflow tracts over the 4-chamber view. J Ultrasound Med 2009;28:889–899.
    External Resources
  22. Axt-Fliedner R, Hartge D, Krapp M, Berg C, Geipel A, Koester S, Noack F, Germer U, Gembruch U: Course and outcome of fetuses suspected of having coarctation of the aorta during gestation. Ultraschall Med 2009;30:269–276.
  23. Lammer EJ, Chak JS, Iovannisci DM, Schultz K, Osoegawa K, Carmichael SL, Shaw GM: Chromosomal abnormalities among children born with conotruncal cardiac defects. Birth Defects Res A Clin Mol Teratol 2009;85:30–35.

Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: March 01, 2011
Accepted: September 12, 2011
Published online: November 17, 2011
Issue release date: December 2011

Number of Print Pages: 7
Number of Figures: 3
Number of Tables: 4

ISSN: 1015-3837 (Print)
eISSN: 1421-9964 (Online)

For additional information: https://www.karger.com/FDT


Copyright / Drug Dosage / Disclaimer

Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
TOP