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.

Input patient's signs and symptoms

Narrow down the case reports

Total: 31 (papers)

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Matched Phenotype Gene Mutation MeSH

Rank (Similarity)	PMID (PMCID)
3 (4.0%)	8185730	[The aortopulmonary window. A report of 4 cases]. Gloss G, Delgado Leal L, Diaz Moncada F, Vazquez G, Calderon-Colmenero J, Buendia A. Arch Inst Cardiol Mex. 1993;63(2):149-52. [ Show abstract ] [ Hide abstract ]
		Patent ductus arteriosus


		Aorta Aortopulmonary Septal Defect Child, Preschool Differential Diagnosis Females Homo sapiens Infant Male Repeat Surgery
3 (4.0%)	7969841	Myelopathy and multiple aneurysms associated with aortic arch interruption: case report. Ling F, Bao YH. Neurosurgery. 1994;35(2):310-3; discussion 313. [ Show abstract ] [ Hide abstract ]
		Urinary incontinence


		Aneurysm Blood Vessel Prosthesis Collateral Circulation Diagnostic Imaging Hemodynamics Homo sapiens Intracranial Aneurysm Male Neurologic Examination Spinal Cord Syringomyelia
3 (4.0%)	7453234	Aortic atresia with interrupted aortic arch: reparative operation. Norwood WI, Stellin GJ. J Thorac Cardiovasc Surg. 1981;81(2):239-44. [ Show abstract ] [ Hide abstract ]
		Ventricular septal defect


		Homo sapiens Infant, Newborn Male Methods Ventricular Septal Defects
3 (4.0%)	6881844	Aortic wheeze: intermittent tracheal obstruction caused by a rare aortic arch anomaly. Buckwalter J, Sasaki C, Kopf G, Hellenbrand W, Kleinman C, Markowitz R. Ann Otol Rhinol Laryngol. 1983;92(4 Pt 1):383-6. [ Show abstract ] [ Hide abstract ]
		Dysphagia


		Aortic Arch Syndromes Esophageal Stenosis Homo sapiens Infant Male Respiratory Sounds Tracheal Stenosis
3 (4.0%)	4080574	Aortic arch interruption: two-dimensional echocardiographic recognition in utero. Marasini M, Pongiglione G, Lituania M, Cordone M, Porro E, Garello-Cantoni L. Pediatr Cardiol. 1985;6(3):147-9. [ Show abstract ] [ Hide abstract ]
		Therapeutic abortion


		Adult Echocardiography Edema Females Fetal Diseases Homo sapiens Pregnancy Turner Syndrome
3 (4.0%)	1631880	Truncus arteriosus communis associated with interrupted aortic arch: a report on two uncommon cases. Skalski JH, Sievers HH, Funda J, Regensburger D, Bernhard A. Thorac Cardiovasc Surg. 1992;40(2):92-5. [ Show abstract ] [ Hide abstract ]
		Patent ductus arteriosus
		IGKV1D-27

		Aortic Arch Syndromes Echocardiography Females Hemodynamics Homo sapiens Infant, Newborn Postoperative Complications Truncus Arteriosus, Persistent
3 (4.0%)	1389266	Conversion of lusoric artery into right subclavian artery in one-stage neonatal repair of aortic arch anomalies and intracardiac defects. Bogers AJ, Cromme-Dijkhuis AH, Bos E. Eur J Cardiothorac Surg. 1992;6(9):514-6. [ Show abstract ] [ Hide abstract ]
		Ventricular septal defect


		Aortography Homo sapiens Infant Methods Stenosis Ventricular Septal Defects
3 (4.0%)	617971	Aortic arch interruption type A with aortopulmonary fenestration in an offspring of a chronic alcoholic mother ("fetal alcohol syndrome"). Terrapon M, Schneider P, Friedli B, Cox JN. Helv Paediatr Acta. 1977;32(2):141-8. [ Show abstract ] [ Hide abstract ]
		Small for gestational age


		Adult Congenital Heart Defects Females Fetal Alcohol Spectrum Disorders Homo sapiens Infant, Newborn Male Pregnancy
3 (4.0%)	444009	[Aortic arch interruption and cutaneous PO2]. de Geeter B, Messer J, Benoit M, Willard D. Arch Fr Pediatr. 1979;36(2):144-8. [ Show abstract ] [ Hide abstract ]
		Right-to-left shunt


		Females Homo sapiens Infant Infant, Newborn Male Methods Skin
3 (4.0%)	420521	Aortic arch interruption presenting with absence of all limb pulses. Sharratt GP, Leanage R, Monro JL, Shinebourne EA. Arch Dis Child. 1979;54(1):49-53. [ Show abstract ] [ Hide abstract ]
		Acidosis


		Carotid Arteries Differential Diagnosis Females Homo sapiens Infant, Newborn Male Ventricular Septal Defects

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