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Interrupted aortic arch type A

MedGen UID:
488874
•Concept ID:
C0345092
•
Congenital Abnormality
Synonyms: Interrupted aortic arch distal to left subclavian artery; Type A interrupted aortic arch
SNOMED CT: Interrupted aortic arch distal to left subclavian artery (253681005); Type A interrupted aortic arch (253681005)
 
HPO: HP:0011612

Definition

Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInterrupted aortic arch type A

Professional guidelines

PubMed

Prenatal Diagnosis of Fetal Interrupted Aortic Arch Type A by Two-Dimensional Echocardiography and Four-Dimensional Echocardiography with B-Flow Imaging and Spatiotemporal Image Correlation.
Zhang D, Zhang Y, Ren W, Sun F, Guo Y, Sun W, Wang Y, Huang L, Cai A
Echocardiography 2016 Jan;33(1):90-8. Epub 2015 Jun 22 doi: 10.1111/echo.12996. PMID: 26099448

Recent clinical studies

Etiology

Prenatal Diagnosis of Fetal Interrupted Aortic Arch Type A by Two-Dimensional Echocardiography and Four-Dimensional Echocardiography with B-Flow Imaging and Spatiotemporal Image Correlation.
Zhang D, Zhang Y, Ren W, Sun F, Guo Y, Sun W, Wang Y, Huang L, Cai A
Echocardiography 2016 Jan;33(1):90-8. Epub 2015 Jun 22 doi: 10.1111/echo.12996. PMID: 26099448
22q11.2 deletions in patients with conotruncal defects: data from 1,610 consecutive cases.
Peyvandi S, Lupo PJ, Garbarini J, Woyciechowski S, Edman S, Emanuel BS, Mitchell LE, Goldmuntz E
Pediatr Cardiol 2013 Oct;34(7):1687-94. Epub 2013 Apr 21 doi: 10.1007/s00246-013-0694-4. PMID: 23604262Free PMC Article
Maternal transmission of interstitial 8p23.1 deletion detected during prenatal diagnosis.
Guimiot F, Dupont C, Fuentes-Duarte A, Aboura A, Bazin A, Khung-Savatovsky S, Tillous-Borde I, Delezoide AL, Azancot A
Am J Med Genet A 2013 Jan;161A(1):208-13. Epub 2012 Dec 14 doi: 10.1002/ajmg.a.35690. PMID: 23239632
Echocardiographic predictors of left ventricular outflow tract obstruction after repair of interrupted aortic arch.
Geva T, Hornberger LK, Sanders SP, Jonas RA, Ott DA, Colan SD
J Am Coll Cardiol 1993 Dec;22(7):1953-60. doi: 10.1016/0735-1097(93)90785-y. PMID: 8245355

Diagnosis

Treatment-refractory heart failure as a manifestation of aortic arch atresia.
González-Ramos LA, Martínez-Carballo EM, Anaya-García JE, Sánchez-Cárdenas J, Velázquez-Fontes KN, Mazariego-Pedraza D
Bol Med Hosp Infant Mex 2022;79(4):263-267. doi: 10.24875/BMHIM.21000113. PMID: 36100213
Two-stage repair of interrupted aortic arch type A: Arch reconstruction and pulmonary artery banding without CPB through a left thoracotomy.
Di Pasquale L, Dranseika V, Erdil T, Prêtre R, Dave H
Multimed Man Cardiothorac Surg 2020 Jul 6;2020 doi: 10.1510/mmcts.2020.035. PMID: 32633906
Expanding the phenotype of STRA6-related disorder to include left ventricular non-compaction.
Sun H, Yu S, Zhou X, Han L, Zhang H, He Y
Mol Genet Genomic Med 2020 Sep;8(9):e1377. Epub 2020 Jun 29 doi: 10.1002/mgg3.1377. PMID: 32597569Free PMC Article
Prenatal Diagnosis of Fetal Interrupted Aortic Arch Type A by Two-Dimensional Echocardiography and Four-Dimensional Echocardiography with B-Flow Imaging and Spatiotemporal Image Correlation.
Zhang D, Zhang Y, Ren W, Sun F, Guo Y, Sun W, Wang Y, Huang L, Cai A
Echocardiography 2016 Jan;33(1):90-8. Epub 2015 Jun 22 doi: 10.1111/echo.12996. PMID: 26099448
Interrupted aortic arch type A with 22q11 deletion: prenatal detection of an unusual association.
Volpe P, Gentile M, Marasini M
Prenat Diagn 2002 May;22(5):371-4. doi: 10.1002/pd.320. PMID: 12001189

Therapy

Truncus arteriosus with interrupted aortic arch: successful repair using modified cardiopulmonary bypass and surgical techniques.
Chen Q, Modi P, Caputo M, Pawade A
Ann Thorac Surg 2006 Nov;82(5):1884-6. doi: 10.1016/j.athoracsur.2006.03.097. PMID: 17062266

Prognosis

22q11.2 deletions in patients with conotruncal defects: data from 1,610 consecutive cases.
Peyvandi S, Lupo PJ, Garbarini J, Woyciechowski S, Edman S, Emanuel BS, Mitchell LE, Goldmuntz E
Pediatr Cardiol 2013 Oct;34(7):1687-94. Epub 2013 Apr 21 doi: 10.1007/s00246-013-0694-4. PMID: 23604262Free PMC Article
Maternal transmission of interstitial 8p23.1 deletion detected during prenatal diagnosis.
Guimiot F, Dupont C, Fuentes-Duarte A, Aboura A, Bazin A, Khung-Savatovsky S, Tillous-Borde I, Delezoide AL, Azancot A
Am J Med Genet A 2013 Jan;161A(1):208-13. Epub 2012 Dec 14 doi: 10.1002/ajmg.a.35690. PMID: 23239632
Primary repair of aortopulmonary window with an interrupted aortic arch in a very low-birth-weight premature neonate.
Okamura T, Nagashima M, Shikata F
Pediatr Cardiol 2011 Feb;32(2):221-3. Epub 2010 Nov 17 doi: 10.1007/s00246-010-9844-0. PMID: 21082173
Echocardiographic predictors of left ventricular outflow tract obstruction after repair of interrupted aortic arch.
Geva T, Hornberger LK, Sanders SP, Jonas RA, Ott DA, Colan SD
J Am Coll Cardiol 1993 Dec;22(7):1953-60. doi: 10.1016/0735-1097(93)90785-y. PMID: 8245355

Clinical prediction guides

Mosaic partial deletion of PTPN12 in a child with interrupted aortic arch type A.
Duffy EA, Pretorius PR, Lerach S, Lohr JL, Hirsch B, Souza CM, Veillette A, Schimmenti LA
Am J Med Genet A 2015 Nov;167A(11):2674-83. Epub 2015 Aug 6 doi: 10.1002/ajmg.a.37279. PMID: 26250342
22q11.2 deletions in patients with conotruncal defects: data from 1,610 consecutive cases.
Peyvandi S, Lupo PJ, Garbarini J, Woyciechowski S, Edman S, Emanuel BS, Mitchell LE, Goldmuntz E
Pediatr Cardiol 2013 Oct;34(7):1687-94. Epub 2013 Apr 21 doi: 10.1007/s00246-013-0694-4. PMID: 23604262Free PMC Article
Interrupted aortic arch type A with 22q11 deletion: prenatal detection of an unusual association.
Volpe P, Gentile M, Marasini M
Prenat Diagn 2002 May;22(5):371-4. doi: 10.1002/pd.320. PMID: 12001189
Echocardiographic predictors of left ventricular outflow tract obstruction after repair of interrupted aortic arch.
Geva T, Hornberger LK, Sanders SP, Jonas RA, Ott DA, Colan SD
J Am Coll Cardiol 1993 Dec;22(7):1953-60. doi: 10.1016/0735-1097(93)90785-y. PMID: 8245355

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