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Aortic arch defects

MedGen UID:
1842770
Concept ID:
C5680872
Congenital Abnormality
Synonym: aortic arch defects
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0015236
Orphanet: ORPHA1132

Definition

Congenital abnormalities of the aortic arch result from aberrant development of one or more components of the embyronic pharangeal arch system. Any component of this system can regress or persist abnormally, resulting in an extensive array of aortic arch anomalies. Clinically, they are classified by those that cause (or are likely to cause) physiolgogical abnormalities and those that do not. Physiologic abnormalities include tracheobronchial compression, esophageeal compression, and abnormal blood flow patteren. [from MONDO]

Professional guidelines

PubMed

Krowchuk DP, Frieden IJ, Mancini AJ, Darrow DH, Blei F, Greene AK, Annam A, Baker CN, Frommelt PC, Hodak A, Pate BM, Pelletier JL, Sandrock D, Weinberg ST, Whelan MA; SUBCOMMITTEE ON THE MANAGEMENT OF INFANTILE HEMANGIOMAS
Pediatrics 2019 Jan;143(1) doi: 10.1542/peds.2018-3475. PMID: 30584062
Dijkema EJ, Leiner T, Grotenhuis HB
Heart 2017 Aug;103(15):1148-1155. Epub 2017 Apr 4 doi: 10.1136/heartjnl-2017-311173. PMID: 28377475
Erbel R, Aboyans V, Boileau C, Bossone E, Bartolomeo RD, Eggebrecht H, Evangelista A, Falk V, Frank H, Gaemperli O, Grabenwöger M, Haverich A, Iung B, Manolis AJ, Meijboom F, Nienaber CA, Roffi M, Rousseau H, Sechtem U, Sirnes PA, Allmen RS, Vrints CJ; ESC Committee for Practice Guidelines
Eur Heart J 2014 Nov 1;35(41):2873-926. Epub 2014 Aug 29 doi: 10.1093/eurheartj/ehu281. PMID: 25173340

Recent clinical studies

Etiology

Persson M, Razaz N, Edstedt Bonamy AK, Villamor E, Cnattingius S
J Am Coll Cardiol 2019 Jan 8;73(1):44-53. doi: 10.1016/j.jacc.2018.10.050. PMID: 30621950
Mookhoek A, Charitos EI, Hazekamp MG, Bogers AJ, Hörer J, Lange R, Hetzer R, Sachweh JS, Riso A, Stierle U, Takkenberg JJ, Schoof PH
Ann Thorac Surg 2015 Dec;100(6):2278-84. Epub 2015 Oct 23 doi: 10.1016/j.athoracsur.2015.08.008. PMID: 26603019
Woo JS, Perez-Rosendahl M, Haydel D, Perens G, Fishbein MC
Pediatr Dev Pathol 2015 Jan-Feb;18(1):71-5. Epub 2014 Nov 11 doi: 10.2350/14-07-1532-CR.1. PMID: 25386687
Erdal E, Erdal C, Bulut G, Kunter I, Kir M, Atabey N, Açikel U
J Int Med Res 2007 Nov-Dec;35(6):867-72. doi: 10.1177/147323000703500614. PMID: 18034999
Johnson MC, Hing A, Wood MK, Watson MS
Am J Med Genet 1997 Jun 13;70(3):292-8. doi: 10.1002/(sici)1096-8628(19970613)70:3<292::aid-ajmg15>3.0.co;2-g. PMID: 9188669

Diagnosis

Persson M, Razaz N, Edstedt Bonamy AK, Villamor E, Cnattingius S
J Am Coll Cardiol 2019 Jan 8;73(1):44-53. doi: 10.1016/j.jacc.2018.10.050. PMID: 30621950
Woo JS, Perez-Rosendahl M, Haydel D, Perens G, Fishbein MC
Pediatr Dev Pathol 2015 Jan-Feb;18(1):71-5. Epub 2014 Nov 11 doi: 10.2350/14-07-1532-CR.1. PMID: 25386687
Lin AE, Singh KE, Strauss A, Nguyen S, Rawson K, Kimonis VE
Am J Med Genet A 2011 Apr;155A(4):748-56. Epub 2011 Mar 15 doi: 10.1002/ajmg.a.33934. PMID: 21594997

Therapy

Lin AE, Singh KE, Strauss A, Nguyen S, Rawson K, Kimonis VE
Am J Med Genet A 2011 Apr;155A(4):748-56. Epub 2011 Mar 15 doi: 10.1002/ajmg.a.33934. PMID: 21594997
Anderka MT, Lin AE, Abuelo DN, Mitchell AA, Rasmussen SA
Am J Med Genet A 2009 Jun;149A(6):1241-8. doi: 10.1002/ajmg.a.32685. PMID: 19441125

Prognosis

Mookhoek A, Charitos EI, Hazekamp MG, Bogers AJ, Hörer J, Lange R, Hetzer R, Sachweh JS, Riso A, Stierle U, Takkenberg JJ, Schoof PH
Ann Thorac Surg 2015 Dec;100(6):2278-84. Epub 2015 Oct 23 doi: 10.1016/j.athoracsur.2015.08.008. PMID: 26603019
Woo JS, Perez-Rosendahl M, Haydel D, Perens G, Fishbein MC
Pediatr Dev Pathol 2015 Jan-Feb;18(1):71-5. Epub 2014 Nov 11 doi: 10.2350/14-07-1532-CR.1. PMID: 25386687
Lin AE, Singh KE, Strauss A, Nguyen S, Rawson K, Kimonis VE
Am J Med Genet A 2011 Apr;155A(4):748-56. Epub 2011 Mar 15 doi: 10.1002/ajmg.a.33934. PMID: 21594997
Anderka MT, Lin AE, Abuelo DN, Mitchell AA, Rasmussen SA
Am J Med Genet A 2009 Jun;149A(6):1241-8. doi: 10.1002/ajmg.a.32685. PMID: 19441125

Clinical prediction guides

Mookhoek A, Charitos EI, Hazekamp MG, Bogers AJ, Hörer J, Lange R, Hetzer R, Sachweh JS, Riso A, Stierle U, Takkenberg JJ, Schoof PH
Ann Thorac Surg 2015 Dec;100(6):2278-84. Epub 2015 Oct 23 doi: 10.1016/j.athoracsur.2015.08.008. PMID: 26603019
Woo JS, Perez-Rosendahl M, Haydel D, Perens G, Fishbein MC
Pediatr Dev Pathol 2015 Jan-Feb;18(1):71-5. Epub 2014 Nov 11 doi: 10.2350/14-07-1532-CR.1. PMID: 25386687
Lin AE, Singh KE, Strauss A, Nguyen S, Rawson K, Kimonis VE
Am J Med Genet A 2011 Apr;155A(4):748-56. Epub 2011 Mar 15 doi: 10.1002/ajmg.a.33934. PMID: 21594997

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