Interrupted Aortic Arch 

  • Author: Alvin J Chin, MD; Chief Editor: Steven R Neish, MD, SM   more...
 
Updated: Nov 7, 2011
 

Background

Interrupted aortic arch (IAA) is a relatively rare genetic disorder that usually occurs in association with a nonrestrictive ventricular septal defect (VSD) and ductus arteriosus or, less commonly, with a large aortopulmonary window or truncus arteriosus.[1] Although most cases occur in normally connected great arteries, interrupted aortic arch can coexist with any ventriculoarterial alignment and also with severe underdevelopment of one ventricle. The rare cases that involved interrupted aortic arch, aortic valve atresia, and VSD have been complex; two have presented with circle of Willis–dependent coronary blood flow,[2, 3] and two have presented with bilateral ductus in which coronary blood flow depended on the patency of the right ductus arteriosus.[4, 5]

Interrupted aortic arch and complete common atrioventricular canal can be observed in the context of coloboma, heart disease, atresia choanae, retarded growth and development and/or CNS anomalies, genital hypoplasia, and ear anomalies and/or deafness (CHARGE) syndrome, which is usually caused by mutations in CHD7 on chromosome 8q12.1.[6] Approximately 50% of patients with interrupted aortic arch have DiGeorge syndrome; in these cases, the interrupted aortic arch is usually type B, although cases of type A or type C have also been reported.

Surgical reconstruction of the arch is now relatively straightforward; hence, attention is increasingly focused on the preoperative identification and surgical management of the aortic valve and subaortic stenosis found in approximately one half of cases. Interrupted aortic arch is the first cardiovascular pattern formation anomaly to be demonstrated to have a genetic basis in both mouse and human.

Embryology

Approximately one half of patients with interrupted aortic arch have a hemizygous deletion of a 1.5-3 Mb region of chromosome band 22q11.2,[7, 8] the most common deletion syndrome in humans. Among the 35-50 genes deleted, the T-box gene TBX1 appears to be responsible for most aspects of the DiGeorge phenotype.

In addition, 2 independent lines of evidence suggest that the etiology of many cases of interrupted aortic arch type A is different from the etiology of interrupted aortic arch type B (see below for definition of types). The variety of associated VSDs is different in the 2 types of interrupted aortic arch.[9] The prevalence of 22q11.2 hemizygosity is also different; approximately three fourths of patients with interrupted aortic arch type B have the deletion, whereas exceedingly few patients with interrupted aortic arch type A have the deletion.

Anatomy

Interrupted aortic arch has been classified into 3 types (A, B, and C) based on the site of aortic interruption. In type A interrupted left aortic arch, the arch interruption occurs distal to the origin of the left subclavian artery. In type B interrupted left aortic arch, the interruption occurs distal to the origin of the left common carotid artery. In type C interrupted left aortic arch, the interruption occurs proximal to the origin of the left common carotid artery.

In any of the 3 types, the right subclavian artery may arise normally or abnormally; the 2 most common abnormal sites are distal to the left subclavian artery (aberrant right subclavian artery) and from a right ductus arteriosus (isolated right subclavian artery).[10] Type B interruptions account for about two thirds of cases, type A occur in about one third of cases, and type C are present in less than 1% of cases.

Suprasternal echocardiographic identification of iSuprasternal echocardiographic identification of interrupted aortic arch Type B. Upper left: Frontal (coronal) view showing the takeoffs of the innominate artery (InnA) and left common carotid artery (LCCA). No connection is seen with the distal aorta. Upper right: Slightly more dorsal (posterior) frontal view showing the main pulmonary artery (MPA), large left-sided patent ductus arteriosus (PDA), and left-sided upper descending aorta (DescAo). The ascending aorta (AscAo) is not in discernible continuity with the descending aorta. Lower left: Left oblique view showing the LCCA takeoff and no discernible aortic arch. Lower right: sagittal view showing the origin of the left subclavian artery (LSCA) from the DescAo. Other Abbreviations: InnV= innominate vein; l=left; LPA=left pulmonary artery; p,l = posterior and leftward; s=superior; SVC=superior vena cava. Section A depicts a subcostal frontal echocardiogrSection A depicts a subcostal frontal echocardiogram of interrupted aortic arch (IAA) type B with transposition of the great arteries. Section B shows a high parasternal echocardiogram showing that the innominate artery (Inn A) and left common carotid artery (LCCA) arise from the ascending aorta (a ao). In section C, the left subclavian artery (LSCA) arises from the descending aorta (desc ao), which is perfused by the ductus arteriosus. This is the suprasternal sagittal ultrasonographicThis is the suprasternal sagittal ultrasonographic view of the patient shown in Media file 2. Arch continuity has now been restored by a side-to-side anastomosis. Abbreviations are as follows: a ao = ascending aorta and desc ao = descending aorta.
Next

Pathophysiology

During fetal development, left ventricular output supplies the arterial circulation proximal to the interruption whereas right ventricular output supplies arterial circulation distal to the interruption via the left ductus arteriosus. Postnatally, this arrangement continues, with the addition of the pulmonary blood flow to the load of the left ventricle.

Previous
Next

Epidemiology

Frequency

United States

The incidence is approximately 2 cases per 100,000 live births.

Mortality/Morbidity

Circulatory compromise manifested by metabolic acidosis begins when the ductus arteriosus constricts, thus decreasing flow to the circulation distal to the arch interruption. Prior to this, even severe aortic and subaortic hypoplasia is physiologically masked because of the presence of the VSD. Patients are at risk for severe low output syndrome (ie, cardiogenic shock) because of both the effect of profound metabolic acidosis on cardiac performance and the reduced distal systemic arterial circulation imposed by falling pulmonary vascular resistance.

Age

Nearly all patients with interrupted aortic arch present in the first 2 weeks of life when the ductus arteriosus closes. Most patients present in the first day of life.

Previous
Proceed to Clinical Presentation
 
 
Contributor Information and Disclosures
Author

Alvin J Chin, MD  Professor of Pediatrics, University of Pennsylvania School of Medicine; Attending Physician, Cardiology Division, Children's Hospital of Philadelphia

Alvin J Chin, MD, is a member of the following medical societies: American Association for the Advancement of Science, American Heart Association, and Society for Developmental Biology

Disclosure: Nothing to disclose.

Specialty Editor Board

Charles I Berul, MD  Professor of Pediatrics and Integrative Systems Biology, George Washington University School of Medicine; Chief, Division of Cardiology, Children's National Medical Center

Charles I Berul, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American Heart Association, Cardiac Electrophysiology Society, Heart Rhythm Society, Pediatric and Congenital Electrophysiology Society, and Society for Pediatric Research

Disclosure: Johnson & Johnson Consulting fee Consulting

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Ameeta Martin, MD  Clinical Associate Professor, Department of Pediatric Cardiology, University of Nebraska College of Medicine

Ameeta Martin, MD is a member of the following medical societies: American College of Cardiology

Disclosure: Nothing to disclose.

Gilbert Z Herzberg, MD  Assistant Professor, Department of Pediatrics, Section of Pediatric Cardiology, New York Medical College; Consulting Staff, Department of Pediatrics, Sound Shore Medical Center

Gilbert Z Herzberg, MD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Chief Editor

Steven R Neish, MD, SM  Director of Pediatric Cardiology Fellowship Program, Associate Professor, Department of Pediatrics, Baylor College of Medicine

Steven R Neish, MD, SM is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, and American Heart Association

Disclosure: Nothing to disclose.

References

  1. Gruber PJ, Epstein JA. Development gone awry: congenital heart disease. Circ Res. Feb 20 2004;94(3):273-83. [Medline].

  2. Dibardino DJ, Heinle JS, Andropoulos DA, Kerr CD, Morales DL, Fraser CD Jr. Aortic atresia and type B interrupted aortic arch: diagnosis by physiologic cerebral monitoring. Ann Thorac Surg. May 2005;79(5):1758-60. [Medline].

  3. Tannous HJ, Moulick AN, Jonas RA. Interrupted aortic arch and aortic atresia with circle of Willis-dependent coronary perfusion. Ann Thorac Surg. Aug 2006;82(2):e11-3. [Medline].

  4. Decaluwe W, Delhaas T, Gewillig M. Aortic atresia, interrupted aortic arch type C perfused by bilateral arterial duct. Eur Heart J. Nov 2005;26(21):2333. [Medline].

  5. Norwood WI, Stellin GJ. Aortic atresia with interrupted aortic arch: reparative operation. J Thorac Cardiovasc Surg. Feb 1981;81(2):239-44. [Medline].

  6. Jongmans MC, Admiraal RJ, van der Donk KP, Vissers LE, Baas AF, Kapusta L. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J Med Genet. Apr 2006;43(4):306-14. [Medline].

  7. Goldmuntz E, Clark BJ, Mitchell LE. Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol. Aug 1998;32(2):492-8. [Medline].

  8. Marino B, Digilio MC, Persiani M. Deletion 22q11 in patients with interrupted aortic arch. Am J Cardiol. Aug 1 1999;84(3):360-1, A9. [Medline].

  9. Chin AJ, Jacobs ML. Morphology of the ventricular septal defect in two types of interrupted aortic arch. J Am Soc Echocardiogr. Mar-Apr 1996;9(2):199-201. [Medline].

  10. Mulay AV, Watterson KG. Isolated right subclavian artery, interrupted aortic arch, and ventricular septal defect. Ann Thorac Surg. Apr 1997;63(4):1163-5. [Medline].

  11. Arnold JS, Werling U, Braunstein EM, Liao J, Nowotschin S, Edelmann W. Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations. Development. Mar 2006;133(5):977-87. [Medline].

  12. Zhang Z, Huynh T, Baldini A. Mesodermal expression of Tbx1 is necessary and sufficient for pharyngeal arch and cardiac outflow tract development. Development. Sep 2006;133(18):3587-95. [Medline].

  13. Iida K, Koseki H, Kakinuma H. Essential roles of the winged helix transcription factor MFH-1 in aortic arch patterning and skeletogenesis. Development. Nov 1997;124(22):4627-38. [Medline].

  14. Winnier GE, Kume T, Deng K. Roles for the winged helix transcription factors MF1 and MFH1 in cardiovascular development revealed by nonallelic noncomplementation of null alleles. Dev Biol. Sep 15 1999;213(2):418-31. [Medline].

  15. Jerome LA, Papaioannou VE. DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat Genet. Mar 2001;27(3):286-91. [Medline].

  16. Lindsay EA, Vitelli F, Su H. Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice. Nature. Mar 1 2001;410(6824):97-101. [Medline].

  17. Merscher S, Funke B, Epstein JA. TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell. Feb 23 2001;104(4):619-29. [Medline].

  18. Feiner L, Webber AL, Brown CB, Lu MM, Jia L, Feinstein P. Targeted disruption of semaphorin 3C leads to persistent truncus arteriosus and aortic arch interruption. Development. Aug 2001;128(16):3061-70. [Medline].

  19. Gitler AD, Lu MM, Epstein JA. PlexinD1 and semaphorin signaling are required in endothelial cells for cardiovasculardevelopment. Dev Cell. Jul 2004;7(1):107-16. [Medline].

  20. Yanagisawa H, Hammer RE, Richardson JA. Role of Endothelin-1/Endothelin-A receptor-mediated signaling pathway in the aortic arch patterning in mice. J Clin Invest. Jul 1 1998;102(1):22-33. [Medline].

  21. Makki N, Capecchi MR. Cardiovascular defects in a mouse model of HOXA1 syndrome. Hum Mol Genet. Oct 4 2011;[Medline].

  22. Todorovic V, Frendewey D, Gutstein DE, Chen Y, Freyer L, Finnegan E. Long form of latent TGF-beta binding protein 1 (Ltbp1L) is essential for cardiac outflow tract septation and remodeling. Development. Oct 2007;134(20):3723-32. [Medline].

  23. Li J, Zhu X, Chen M, Cheng L, Zhou D, Lu MM. Myocardin-related transcription factor B is required in cardiac neural crest for smooth muscle differentiation and cardiovascular development. Proc Natl Acad Sci U S A. Jun 21 2005;102(25):8916-21. [Medline].

  24. Cleary JO, McCue K, Price AN, et al. Micro-MRI phenotyping of a novel double-knockout mouse model of congenital heart disease. J Cardio Mag Res. 2010;12(Suppl 1):P1.

  25. Guo C, Sun Y, Zhou B, et al. A Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesis. J Clin Invest. Apr 1 2011;121(4):1585-95. [Medline]. [Full Text].

  26. High FA, Jain R, Stoller JZ, et al. Murine Jagged1/Notch signaling in the second heart field orchestrates Fgf8 expression and tissue-tissue interactions during outflow tract development. J Clin Invest. Jul 2009;119(7):1986-96. [Medline]. [Full Text].

  27. Huang ZP, Chen JF, Regan JN, et al. Loss of microRNAs in neural crest leads to cardiovascular syndromes resembling human congenital heart defects. Arterioscler Thromb Vasc Biol. Dec 2010;30(12):2575-86. [Medline]. [Full Text].

  28. Nie X, Wang Q, Jiao K. Dicer activity in neural crest cells is essential for craniofacial organogenesis and pharyngeal arch artery morphogenesis. Mech Dev. Mar-Apr 2011;128(3-4):200-7. [Medline].

  29. Lepore JJ, Mericko PA, Cheng L, Lu MM, Morrisey EE, Parmacek MS. GATA-6 regulates semaphorin 3C and is required in cardiac neural crest for cardiovascular morphogenesis. J Clin Invest. Apr 2006;116(4):929-39. [Medline].

  30. Singh N, Trivedi CM, Lu M, et al. Histone Deacetylase 3 Regulates Smooth Muscle Differentiation in Neural Crest Cells and Development of the Cardiac Outflow Tract. Circ Res. Sep 29 2011;[Medline].

  31. van der Flier A, Badu-Nkansah K, Whittaker CA, et al. Endothelial alpha5 and alphav integrins cooperate in remodeling of the vasculature during development. Development. Jul 2010;137(14):2439-49. [Medline]. [Full Text].

  32. Watanabe Y, Miyagawa-Tomita S, Vincent SD, et al. Role of mesodermal FGF8 and FGF10 overlaps in the development of the arterial pole of the heart and pharyngeal arch arteries. Circ Res. Feb 19 2010;106(3):495-503. [Medline]. [Full Text].

  33. Yagi H, Furutani Y, Hamada H. Role of TBX1 in human del22q11.2 syndrome. Lancet. Oct 25 2003;362(9393):1366-73. [Medline].

  34. Storti S, Vittorini S, Lascone MR, et al. Association between 5,10-methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and conotruncal heart defects. Clin Chem Lab Med. Mar 2003;41(3):276-80. [Medline].

  35. Christiansen J, Dyck JD, Elyas BG, Lilley M, Bamforth JS, Hicks M, et al. Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease. Circ Res. Jun 11 2004;94(11):1429-35. [Medline].

  36. Belangero SI, Bellucco FT, Cernach MC, et al. Interrupted aortic arch type B in A patient with cat eye syndrome. Arq Bras Cardiol. May 2009;92(5):e29-31, e56-8. [Medline].

  37. Apfel HD, Levenbraun J, Quaegebeur JM. Usefulness of preoperative echocardiography in predicting left ventricular outflow obstruction after primary repair of interrupted aortic arch with ventricular septal defect. Am J Cardiol. Aug 15 1998;82(4):470-3. [Medline].

  38. Hirooka K, Fraser CD Jr. Ross-Konno procedure with interrupted aortic arch repair in a premature neonate. Ann Thorac Surg. Jul 1997;64(1):249-51. [Medline].

  39. Steger V, Heinemann MK, Irtel von Brenndorff C. Combined Norwood and Rastelli procedure for repair of interrupted aortic arch with subaortic stenosis. Thorac Cardiovasc Surg. Jun 1998;46(3):156-8. [Medline].

  40. Zhang H, Cheng P, Hou J, Li L, Liu H, Liu R, et al. Regional cerebral perfusion for surgical correction of neonatal aortic arch obstruction. Perfusion. Sep 16 2009;[Medline].

  41. Jacobs ML, Chin AJ, Rychik J. Interrupted aortic arch. Impact of subaortic stenosis on management and outcome. Circulation. Nov 1 1995;92(9 Suppl):II128-31. [Medline].

 
Previous
Next
 
Suprasternal echocardiographic identification of interrupted aortic arch Type B. Upper left: Frontal (coronal) view showing the takeoffs of the innominate artery (InnA) and left common carotid artery (LCCA). No connection is seen with the distal aorta. Upper right: Slightly more dorsal (posterior) frontal view showing the main pulmonary artery (MPA), large left-sided patent ductus arteriosus (PDA), and left-sided upper descending aorta (DescAo). The ascending aorta (AscAo) is not in discernible continuity with the descending aorta. Lower left: Left oblique view showing the LCCA takeoff and no discernible aortic arch. Lower right: sagittal view showing the origin of the left subclavian artery (LSCA) from the DescAo. Other Abbreviations: InnV= innominate vein; l=left; LPA=left pulmonary artery; p,l = posterior and leftward; s=superior; SVC=superior vena cava.
Section A depicts a subcostal frontal echocardiogram of interrupted aortic arch (IAA) type B with transposition of the great arteries. Section B shows a high parasternal echocardiogram showing that the innominate artery (Inn A) and left common carotid artery (LCCA) arise from the ascending aorta (a ao). In section C, the left subclavian artery (LSCA) arises from the descending aorta (desc ao), which is perfused by the ductus arteriosus.
This is the suprasternal sagittal ultrasonographic view of the patient shown in Media file 2. Arch continuity has now been restored by a side-to-side anastomosis. Abbreviations are as follows: a ao = ascending aorta and desc ao = descending aorta.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.