Gruber PJ, Epstein JA. Development gone awry: congenital heart disease. Circ Res. 2004 Feb 20. 94(3):273-83. [QxMD MEDLINE Link]. [Full Text].
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. 2005 May. 79(5):1758-60. [QxMD MEDLINE Link].
Tannous HJ, Moulick AN, Jonas RA. Interrupted aortic arch and aortic atresia with circle of Willis-dependent coronary perfusion. Ann Thorac Surg. 2006 Aug. 82(2):e11-3. [QxMD MEDLINE Link].
Decaluwe W, Delhaas T, Gewillig M. Aortic atresia, interrupted aortic arch type C perfused by bilateral arterial duct. Eur Heart J. 2005 Nov. 26(21):2333. [QxMD MEDLINE Link].
Norwood WI, Stellin GJ. Aortic atresia with interrupted aortic arch: reparative operation. J Thorac Cardiovasc Surg. 1981 Feb. 81(2):239-44. [QxMD MEDLINE Link].
Jongmans MC, Admiraal RJ, van der Donk KP, et al. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J Med Genet. 2006 Apr. 43(4):306-14. [QxMD MEDLINE Link]. [Full Text].
Corsten-Janssen N, Kerstjens-Frederikse WS, du Marchie Sarvaas GJ, et al. The cardiac phenotype in patients with a CHD7 mutation. Circ Cardiovasc Genet. 2013 Jun. 6(3):248-54. [QxMD MEDLINE Link]. [Full Text].
Corsten-Janssen N, Saitta SC, Hoefsloot LH, et al. More clinical overlap between 22q11.2 deletion syndrome and CHARGE syndrome than often anticipated. Mol Syndromol. 2013 Jun. 4(5):235-45. [QxMD MEDLINE Link]. [Full Text].
Alsoufi B, Schlosser B, McCracken C, et al. Selective management strategy of interrupted aortic arch mitigates left ventricular outflow tract obstruction risk. J Thorac Cardiovasc Surg. 2016 Feb. 151(2):412-20. [QxMD MEDLINE Link]. [Full Text].
Goldmuntz E, Clark BJ, Mitchell LE, et al. Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol. 1998 Aug. 32(2):492-8. [QxMD MEDLINE Link]. [Full Text].
Marino B, Digilio MC, Persiani M, et al. Deletion 22q11 in patients with interrupted aortic arch. Am J Cardiol. 1999 Aug 1. 84(3):360-1, A9. [QxMD MEDLINE Link].
Chin AJ, Jacobs ML. Morphology of the ventricular septal defect in two types of interrupted aortic arch. J Am Soc Echocardiogr. 1996 Mar-Apr. 9(2):199-201. [QxMD MEDLINE Link].
Mulay AV, Watterson KG. Isolated right subclavian artery, interrupted aortic arch, and ventricular septal defect. Ann Thorac Surg. 1997 Apr. 63(4):1163-5. [QxMD MEDLINE Link].
Arnold JS, Werling U, Braunstein EM, et al. Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations. Development. 2006 Mar. 133(5):977-87. [QxMD MEDLINE Link].
Zhang Z, Huynh T, Baldini A. Mesodermal expression of Tbx1 is necessary and sufficient for pharyngeal arch and cardiac outflow tract development. Development. 2006 Sep. 133(18):3587-95. [QxMD MEDLINE Link]. [Full Text].
Iida K, Koseki H, Kakinuma H, et al. Essential roles of the winged helix transcription factor MFH-1 in aortic arch patterning and skeletogenesis. Development. 1997 Nov. 124(22):4627-38. [QxMD MEDLINE Link].
Winnier GE, Kume T, Deng K, et al. Roles for the winged helix transcription factors MF1 and MFH1 in cardiovascular development revealed by nonallelic noncomplementation of null alleles. Dev Biol. 1999 Sep 15. 213(2):418-31. [QxMD MEDLINE Link]. [Full Text].
Jerome LA, Papaioannou VE. DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat Genet. 2001 Mar. 27(3):286-91. [QxMD MEDLINE Link].
Lindsay EA, Vitelli F, Su H, et al. Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice. Nature. 2001 Mar 1. 410(6824):97-101. [QxMD MEDLINE Link].
Merscher S, Funke B, Epstein JA, et al. TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell. 2001 Feb 23. 104(4):619-29. [QxMD MEDLINE Link]. [Full Text].
Feiner L, Webber AL, Brown CB, et al. Targeted disruption of semaphorin 3C leads to persistent truncus arteriosus and aortic arch interruption. Development. 2001 Aug. 128(16):3061-70. [QxMD MEDLINE Link].
Gitler AD, Lu MM, Epstein JA. PlexinD1 and semaphorin signaling are required in endothelial cells for cardiovasculardevelopment. Dev Cell. 2004 Jul. 7(1):107-16. [QxMD MEDLINE Link]. [Full Text].
Yanagisawa H, Hammer RE, Richardson JA, Williams SC, Clouthier DE, Yanagisawa M. Role of Endothelin-1/Endothelin-A receptor-mediated signaling pathway in the aortic arch patterning in mice. J Clin Invest. 1998 Jul 1. 102(1):22-33. [QxMD MEDLINE Link]. [Full Text].
Makki N, Capecchi MR. Cardiovascular defects in a mouse model of HOXA1 syndrome. Hum Mol Genet. 2012 Jan 1. 21(1):26-31. [QxMD MEDLINE Link]. [Full Text].
Todorovic V, Frendewey D, Gutstein DE, et al. Long form of latent TGF-beta binding protein 1 (Ltbp1L) is essential for cardiac outflow tract septation and remodeling. Development. 2007 Oct. 134(20):3723-32. [QxMD MEDLINE Link].
Li J, Zhu X, Chen M, et al. 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. 2005 Jun 21. 102(25):8916-21. [QxMD MEDLINE Link]. [Full Text].
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. [Full Text].
Guo C, Sun Y, Zhou B, et al. A Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesis. J Clin Invest. 2011 Apr 1. 121(4):1585-95. [QxMD MEDLINE Link]. [Full Text].
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. 2009 Jul. 119(7):1986-96. [QxMD MEDLINE Link]. [Full Text].
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. 2010 Dec. 30(12):2575-86. [QxMD MEDLINE Link]. [Full Text].
Nie X, Wang Q, Jiao K. Dicer activity in neural crest cells is essential for craniofacial organogenesis and pharyngeal arch artery morphogenesis. Mech Dev. 2011 Mar-Apr. 128(3-4):200-7. [QxMD MEDLINE Link]. [Full Text].
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. 2006 Apr. 116(4):929-39. [QxMD MEDLINE Link]. [Full Text].
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. 2011 Sep 29. [QxMD MEDLINE Link].
Nie X, Brown CB, Wang Q, Jiao K. Inactivation of Bmp4 from the Tbx1 expression domain causes abnormal pharyngeal arch artery and cardiac outflow tract remodeling. Cells Tissues Organs. 2011. 193(6):393-403. [QxMD MEDLINE Link]. [Full Text].
Turlo KA, Noel OD, Vora R, et al. An essential requirement for ß1 integrin in the assembly of extracellular matrix proteins within the vascular wall. Dev Biol. 2012 May 1. 365(1):23-35. [QxMD MEDLINE Link]. [Full Text].
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. 2010 Jul. 137(14):2439-49. [QxMD MEDLINE Link]. [Full Text].
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. 2010 Feb 19. 106(3):495-503. [QxMD MEDLINE Link]. [Full Text].
Yagi H, Furutani Y, Hamada H, et al. Role of TBX1 in human del22q11.2 syndrome. Lancet. 2003 Oct 25. 362(9393):1366-73. [QxMD MEDLINE Link].
Christiansen J, Dyck JD, Elyas BG, et al. Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease. Circ Res. 2004 Jun 11. 94(11):1429-35. [QxMD MEDLINE Link].
Suntratonpipat S, Bamforth SD, Johnson AL, et al. Childhood presentation of interrupted aortic arch with persistent carotid ducts. World J Pediatr Congenit Heart Surg. 2015 Apr. 6(2):335-8. [QxMD MEDLINE Link].
Tasar M, Yaman ND, Eyileten Z, Uysalel A. Surgical treatment of isolated interrupted aortic arch in a young female diagnosed during pregnancy. Ann Vasc Surg. 2015. 29(4):842.e15-7. [QxMD MEDLINE Link].
Patel DM, Maldjian PD, Lovoulos C. Interrupted aortic arch with post-interruption aneurysm and bicuspid aortic valve in an adult: a case report and literature review. Radiol Case Rep. 2015 Oct. 10(3):5-8. [QxMD MEDLINE Link]. [Full Text].
Belitsis G, Finch JR, Shore DF, Rosendahl UP. Pseudoaneurysm at the origin of the left subclavian artery following type A interrupted aortic arch repair in adulthood, London, United Kingdom. J Thorac Cardiovasc Surg. 2016 Jan. 151(1):e17-9. [QxMD MEDLINE Link]. [Full Text].
Sharma SK, Ameta D, Shukla A, et al. Aortopulmonary window and interrupted aortic arch with Eisenmenger syndrome in an adult. Circulation. 2015 Sep 29. 132(13):e157-9. [QxMD MEDLINE Link]. [Full Text].
Mendoza Diaz PM, Herrera Gomar M, Rojano Castillo J. Interrupted aortic arch in an adult and myocardial infarction. Rev Esp Cardiol (Engl Ed). 2016 Feb. 69(2):212. [QxMD MEDLINE Link].
Benincasa S, Fineschi M, Ceccherini C, Pierli C. [Interrupted aortic arch in a 68-year-old female with hypertension] [Italian]. G Ital Cardiol (Rome). 2015 Apr. 16(4):258-9. [QxMD MEDLINE Link].
Jacobs ML, Chin AJ, Rychik J, Steven JM, Nicolson SC, Norwood WI. Interrupted aortic arch. Impact of subaortic stenosis on management and outcome. Circulation. 1995 Nov 1. 92(9 Suppl):II128-31. [QxMD MEDLINE Link]. [Full Text].
Gursu HA, Varan B, Oktay A, Ozkan M. A case of neonatal arterial thrombosis mimicking interrupted aortic arch. Turk Pediatri Ars. 2015 Jun. 50(2):118-22. [QxMD MEDLINE Link]. [Full Text].
Belangero SI, Bellucco FT, Cernach MC, et al. Interrupted aortic arch type B in A patient with cat eye syndrome. Arq Bras Cardiol. 2009 May. 92(5):e29-31, e56-8. [QxMD MEDLINE Link]. [Full Text].
Apfel HD, Levenbraun J, Quaegebeur JM, Allan LD. Usefulness of preoperative echocardiography in predicting left ventricular outflow obstruction after primary repair of interrupted aortic arch with ventricular septal defect. Am J Cardiol. 1998 Aug 15. 82(4):470-3. [QxMD MEDLINE Link].
Burri M, Kasnar-Samprec J, Cleuziou J, et al. Creating an arc-shaped aorta: use of the subclavian artery for interrupted aortic arch repair. Ann Thorac Surg. 2015 Feb. 99(2):648-52. [QxMD MEDLINE Link].
Hirooka K, Fraser CD Jr. Ross-Konno procedure with interrupted aortic arch repair in a premature neonate. Ann Thorac Surg. 1997 Jul. 64(1):249-51. [QxMD MEDLINE Link].
Steger V, Heinemann MK, Irtel von Brenndorff C, Ziemer G. Combined Norwood and Rastelli procedure for repair of interrupted aortic arch with subaortic stenosis. Thorac Cardiovasc Surg. 1998 Jun. 46(3):156-8. [QxMD MEDLINE Link].
Zhang H, Cheng P, Hou J, et al. Regional cerebral perfusion for surgical correction of neonatal aortic arch obstruction. Perfusion. 2009 May. 24(3):185-9. [QxMD MEDLINE Link].
Takeuchi K. Ascending aortic slide for interrupted aortic arch repair: a new approach to maintain native tissue continuity. Transl Pediatr. 2017 Apr. 6(2):81-2. [QxMD MEDLINE Link]. [Full Text].
McCrindle BW, Tchervenkov CI, Konstantinov IE, et al, for the 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 Feb. 129(2):343-50. [QxMD MEDLINE Link]. [Full Text].
Siblini G, Rao PS, Nouri S, Ferdman B, Jureidini SB, Wilson AD. Long-term follow-up results of balloon angioplasty of postoperative aortic recoarctation. Am J Cardiol. 1998 Jan 1. 81(1):61-7. [QxMD MEDLINE Link].
Rao PS. Coarctation of the aorta. Curr Cardiol Rep. 2005 Nov. 7(6):425-34. [QxMD MEDLINE Link].
Sharma SK, Rao PS. Interrupted aortic arch. In: Lang F, ed. Encyclopedia of Molecular Mechanisms of Disease. New York: Springer-Verlag; 2009. Vol 1: 1062-4.