Aortic arch interruption

A rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths.

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Narrow down the case reports

Total: 31 (papers)

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Matched Phenotype Gene Mutation MeSH

Rank (Similarity)	PMID (PMCID)
1 (23.3%)	26989996	Induced Pectus Carinatum. Maddali MM, Valliattu J, Kandachar PS, Thomas E, Nishant AR. J Card Surg. 2016;31(5):357-60. [ Show abstract ] [ Hide abstract ]
		Pectus carinatum


		Congenital Heart Defects Echocardiography Homo sapiens Infant, Newborn Male Thoracoplasty
2 (17.5%)	11173344	Surgical treatment of a distal arch pseudoaneurysm and migrated stent-graft after interrupted aortic arch repair. Shimizu H, Ueda T, Enoki C, Koizumi J, Kashima I, Mitsumaru A, Tsutsumi K, Iino Y, Koizumi K, Katogi T, Kawada S. Ann Thorac Cardiovasc Surg. 2000;6(5):339-41. [ Show abstract ] [ Hide abstract ]
		Ventricular septal defect Scarring


		Angioplasty, Balloon Blood Vessel Prosthesis Congenital Heart Defects Females Foreign-Body Migration Homo sapiens Pseudoaneurysm
3 (4.0%)	29422111	An unusual case of interrupted cervical aortic arch associated with long segment coarctation of the descending thoracic aorta. Dey M, Garg N, Kumar S. Cardiol Young. 2018;28(4):592-594. [ Show abstract ] [ Hide abstract ]
		Patent ductus arteriosus


		Aortic Arch Syndromes Computed Tomography Angiography Differential Diagnosis Echocardiography, Doppler Fatal Outcome Females Homo sapiens Infant, Newborn Multidetector Computed Tomography
3 (4.0%)	28424013	Anterior spinal artery aneurysm in aortic stenosis of different etiology: Report of three cases. Singh V, Naik S, Bhoi SK, Phadke RV. Neuroradiol J. 2017;30(2):180-185. [ Show abstract ] [ Hide abstract ]
		Coarctation of aorta


		Adult Aneurysm Aortic Valve Stenosis Computed Tomography Angiography Females Homo sapiens Magnetic Resonance Imaging Male Middle Aged
3 (4.0%)	27772600	Type B Aortic Arch Interruption in an Adult. Abdoli S, Tatum JM, Fratello AL, Bowdish ME, Baker CJ. Ann Thorac Surg. 2016;102(5):e431-e432. [ Show abstract ] [ Hide abstract ]
		Interrupted aortic arch


		Adult Computed Tomography Angiography Homo sapiens Male Vascular Surgical Procedures
3 (4.0%)	27071339	Hybrid intervention for type A aortic arch interruption and a giant subclavian artery aneurysm in an adult. Oz K, Erek E, Yildirim A. Cardiol Young. 2016;26(5):993-5. [ Show abstract ] [ Hide abstract ]
		Interrupted aortic arch


		Aneurysm Blood Vessel Prosthesis Implantation Computed Tomography Angiography Homo sapiens Male Young Adult
3 (4.0%)	25809619	Aortic Arch Interruption and Persistent Fifth Aortic Arch in Phace Syndrome: Prenatal Diagnosis and Postnatal Course. Chiappa E, Greco A, Fainardi V, Passantino S, Serranti D, Favilli S. Echocardiography. 2015;32(9):1441-3. [ Show abstract ] [ Hide abstract ]
		Hemangioma


		Congenital Heart Defects Differential Diagnosis Females Hemangioma Homo sapiens Infant Infant, Newborn Male Pregnancy Syndrome Ultrasonography, Prenatal
3 (4.0%)	24730014	[Surgical treatment of a complete aortic arch interruption]. Ponte M, Oliveira M, Bettencourt N, Mota JC. Rev Port Cir Cardiotorac Vasc. 2013;20(2):73-6. [ Show abstract ] [ Hide abstract ]
		Hypertension


		Females Homo sapiens Middle Aged Vascular Surgical Procedures
3 (4.0%)	22719153	Single-stage aortic valve-sparing root replacement and extra-anatomic bypass for aortic arch interruption in an adult. Lafci G, Yalcinkaya A, Ecevit AN, Tasoglu I, Kadirogullari E, Turkvatan A, Cagli K. Tex Heart Inst J. 2012;39(3):398-400. [ Show abstract ] [ Hide abstract ]
		Aortic regurgitation


		Adult Aortic Valve Insufficiency Aortography Blood Vessel Prosthesis Implantation Homo sapiens Male X-Ray Computed Tomography
3 (4.0%)	22309184	Type B interrupted left aortic arch with isolated right subclavian artery. Knudson JD, Lopez KN, Maskatia S, McKenzie ED, Lantin-Hermoso MR, Masand PM, Vick Iii GW. Congenit Heart Dis. 2012;7(3):E25-30. [ Show abstract ] [ Hide abstract ]
		Interrupted aortic arch
		PER1

		Echocardiography, Doppler, Color Homo sapiens Infant, Newborn Male Predictive Value of Tests Vascular Surgical Procedures Ventricular Septal Defects X-Ray Computed Tomography

Phenotype(s) retrieved from Orphanet

Total: 0

HPO ID	Term	Frequency

Phenotype(s) retrieved from case reports

Total: 11

HPO ID	Term	# of case reports
HP:0001629	Ventricular septal defect	3
HP:0001643	Patent ductus arteriosus	2
HP:0001680	Coarctation of aorta	2
HP:0001718	Mitral stenosis	1
HP:0002196	Myelopathy	1
HP:0011604	Aortopulmonary window	1
HP:0011611	Interrupted aortic arch	1
HP:0011625	Multiple muscular ventricular septal defects	1
HP:0011682	Perimembranous ventricular septal defect	1
HP:0030449	Therapeutic abortion	1
HP:0100026	Arteriovenous malformation	1

Causative gene(s) retrieved from Orphanet

Total: 0

Gene Symbol	Gene Name	Entrez Gene ID