MCID: ART030
MIFTS: 29

Aortic Arch Interruption

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Aortic Arch Interruption

MalaCards integrated aliases for Aortic Arch Interruption:

Name: Aortic Arch Interruption 52 58
Interrupted Aortic Arch 71

Characteristics:

Orphanet epidemiological data:

58
aortic arch interruption
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q25.4
UMLS via Orphanet 72 C0152419
Orphanet 58 ORPHA2299
UMLS 71 C0152419

Summaries for Aortic Arch Interruption

MalaCards based summary : Aortic Arch Interruption, also known as interrupted aortic arch, is related to aortic arch interruption, facial palsy, and retinal coloboma and tricuspid atresia. The drugs Milrinone and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include Neural Crest and Head Mesenchyme.

Wikipedia : 74 Interrupted aortic arch is a very rare heart defect (affecting 3 per million live births) in which the... more...

Related Diseases for Aortic Arch Interruption

Graphical network of the top 20 diseases related to Aortic Arch Interruption:



Diseases related to Aortic Arch Interruption

Symptoms & Phenotypes for Aortic Arch Interruption

Drugs & Therapeutics for Aortic Arch Interruption

Drugs for Aortic Arch Interruption (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Milrinone Approved 78415-72-2 4197
2
Epinephrine Approved, Vet_approved 51-43-4 5816
3
Racepinephrine Approved 329-65-7 838
4
Dobutamine Approved 34368-04-2 36811
5 Adrenergic alpha-Agonists
6 Adrenergic beta-Agonists
7 Respiratory System Agents
8 Phosphodiesterase 3 Inhibitors
9 Cardiotonic Agents
10 Phosphodiesterase Inhibitors
11 Vasoconstrictor Agents
12 Adrenergic Agents
13 Epinephryl borate
14 Vasodilator Agents
15 Platelet Aggregation Inhibitors
16 Adrenergic Agonists
17 Sympathomimetics
18 Neurotransmitter Agents
19 Protective Agents
20 Anti-Asthmatic Agents
21 Bronchodilator Agents
22 Mydriatics
23 Calcium, Dietary
24
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Does the Choice of Perioperative Inotropes Has Influence on the Morbidity and Mortality of Infants Operated for Complex Heart Defects? Completed NCT04380181 dobu
2 Biventricular Pacing in Children With Wide QRS After Surgery for Congenital Heart Disease Completed NCT02644824
3 Brain Vascular Reactivity to Hypothermic Circulatory Arrest With Antegrade Cerebral Perfusion During Aortic Arch Surgery in Neonates and Infants. Not yet recruiting NCT03047876
4 Incidence of Infection in the Patient With DiGeorge Syndrome Following Surgery for Congenital Heart Disease Terminated NCT00278005
5 A Review of the Diagnosis, Treatment and Outcomes of Children With Critical Congenital Heart Defects Terminated NCT00208689

Search NIH Clinical Center for Aortic Arch Interruption

Genetic Tests for Aortic Arch Interruption

Anatomical Context for Aortic Arch Interruption

MalaCards organs/tissues related to Aortic Arch Interruption:

40
Heart, Brain, Lung, Kidney, Eye, Bone, Thymus
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Aortic Arch Interruption:
# Tissue Anatomical CompartmentCell Relevance
1 Neural Crest Cardiac Neural Crest Cardiac Neural Crest Cells
2 Head Mesenchyme Branchial Arch 3,4,6 Cardiac Neural Crest Cells Affected by disease

Publications for Aortic Arch Interruption

Articles related to Aortic Arch Interruption:

(show top 50) (show all 1091)
# Title Authors PMID Year
1
Primary repair of transposition of the great arteries with an interrupted aortic arch: a case report and literature review. 61
32527284 2020
2
Arterial-level repair of transposition of great arteries without coronary artery transfer. 61
32207192 2020
3
Multiple extremely high-risk endovascular interventions in aortic dissection in an infant with interrupted aortic arch. 61
32189487 2020
4
Pax9 and Gbx2 Interact in the Pharyngeal Endoderm to Control Cardiovascular Development. 61
32466118 2020
5
Single-Stage Repair of Interrupted Aortic Arch With Aortopulmonary Window and Bovine-Type Aortic Arch Complicated by Left Subclavian Artery Origin Stenosis-A Case Report. 61
32294016 2020
6
Composite subclavian artery flap repair of truncus arteriosus-interrupted aortic arch. 61
32353439 2020
7
The prevalence of genetic diagnoses in fetuses with severe congenital heart defects. 61
32341573 2020
8
22q11.2 deletion syndrome and congenital heart disease. 61
32049433 2020
9
Modified Yasui Operation Using Cryopreserved Femoral Vein Homograft. 61
32205114 2020
10
Valentine on a crab-Type A interrupted aortic arch with type 2 aortopulmonary window. 61
32049371 2020
11
Staged surgical repair for infants with interrupted aortic arch. 61
32184038 2020
12
Long-term outcomes following repair of truncus arteriosus and interrupted aortic arch. 61
31209463 2020
13
Beating heart thoracic aortic surgery under selective myocardial perfusion for patients with congenital aortic anomalies. 61
32034678 2020
14
Proximal Descending Thoracic Aortic Pseudoaneurysm in a 24-Year-Old Man after 2 Childhood Repairs of Interrupted Aortic Arch. 61
32148449 2020
15
Surgical repair in a patient with Berry syndrome. 61
32002749 2020
16
Right Ventricular Outflow Tract Reconstruction in Infant Truncus Arteriosus: A 37-year Experience. 61
31904368 2020
17
Surgical repair for aortopulmonary window with interrupted aortic arch in late childhood. 61
31907082 2020
18
Utility of Cervical Cannulation During Difficult Resternotomy in Congenital Heart Surgery. 61
31835977 2020
19
Interrupted aortic arch: A case report. 61
32476755 2020
20
Altered 4-D magnetic resonance imaging flow characteristics in complex congenital aortic arch repair. 61
31473788 2020
21
Genetic abnormalities/syndromes significantly impact perioperative outcomes of conotruncal heart defects. 61
32030034 2020
22
Type B Interrupted Aortic Arch with a Patent Ductus Arteriosus in an Adult Presenting with Secondary Polycythaemia. 61
32309260 2020
23
Heart-lung transplantation with concomitant aortic arch reconstruction for Eisenmenger syndrome and type B interrupted aortic arch. 61
31570290 2019
24
Aortopulmonary Window With Pulmonary Atresia and Interrupted Aortic Arch: A Very Rare Triad. 61
31701829 2019
25
320-slice CT angiography of an interrupted aortic arch patient relying on collaterals: An addition to classification criteria. 61
31695825 2019
26
National population-based estimates for major birth defects, 2010-2014. 61
31580536 2019
27
Swing-back and trap-door technique repair for interrupted aortic arch with right-sided descending aorta. 61
31317173 2019
28
Single-stage repair of interrupted aortic arch type B with ventricular septal defect. 61
31751006 2019
29
Interrupted Aortic Arch in a Patient with Patient-Prosthesis Mismatch after Aortic Valve Replacement. 61
32018310 2019
30
Interrupted aortic arch with multiple vascular malformations. 61
31567374 2019
31
Left subclavian to descending aorta bypass: A less invasive extra-anatomical solution for a type A interrupted aortic arch. 61
31344271 2019
32
Pax9 is required for cardiovascular development and interacts with Tbx1 in the pharyngeal endoderm to control 4th pharyngeal arch artery morphogenesis. 61
31444215 2019
33
A complex case of aortic arch interruption and hypoplastic descending aorta. 61
30754985 2019
34
Echocardiographic predictors of reoperation for subaortic stenosis in children and adults. 61
30805587 2019
35
Surgical repair for common arterial trunk with pulmonary dominance, hypoplasia of ascending aorta, and interrupted aortic arch. 61
31516284 2019
36
Case of anomalous origin of right coronary artery from pulmonary artery associated with interrupted aortic arch type A, diagnosed by multidetector computed tomography angiography. 61
31516301 2019
37
[Reconstruction of the Aortic Arch with an Autologous Pericardial Patch in Aortic Coarctation and Interruption]. 61
31506403 2019
38
Assessment of intracardiac and extracardiac anomalies associated with coarctation of aorta and interrupted aortic arch using dual-source computed tomography. 61
31406129 2019
39
Tbx1 and Foxi3 genetically interact in the pharyngeal pouch endoderm in a mouse model for 22q11.2 deletion syndrome. 61
31412026 2019
40
Autologous Tissue Reconstruction of Interrupted Aortic Arch Using Aberrant Subclavian Artery. 61
30639364 2019
41
Staged Biventricular Repair After Hybrid Procedure in High-Risk Neonates and Infants. 61
31307296 2019
42
Aortic atresia with the interrupted aortic arch and an pulmonary-coronary fistula: the unique constellation for survival. 61
30698779 2019
43
Direct Arterial Cannulation Allows Easy and Safe Continuous Selective Cerebral Perfusion During Repair of Interrupted Aortic Arch Even for Low Birth Weight Neonates. 61
31307306 2019
44
Image Diagnosis - Interrupted Aortic Arch in a Child With Differential Cyanosis. 61
30787249 2019
45
Patient-specific Computational Hemodynamic Analysis for Interrupted Aortic Arch in an Adult: Implications for Aortic Dissection Initiation. 61
31197221 2019
46
The Effect of Multidisciplinary Approach on the Birth Rate of Fetuses with Prenatally Diagnosed Congenital Heart Disease. 61
31222983 2019
47
Native Aortic Arch Interruption in Adulthood: Surgical Management. 61
31614377 2019
48
Aortic atresia and interrupted aortic arch communicating through external carotid anastomosis. 61
31122308 2019
49
Self-reported functional health status following interrupted aortic arch repair: A Congenital Heart Surgeons' Society Study. 61
30770109 2019
50
Truncus arteriosus communis associated with interrupted aortic arch - Type B and right aberrant subclavian artery: A rare entity. 61
31027931 2019

Variations for Aortic Arch Interruption

ClinVar genetic disease variations for Aortic Arch Interruption:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NKX2-5 NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys)SNV Conflicting interpretations of pathogenicity 9008 rs28936670 5:172662014-172662014 5:173235011-173235011

Expression for Aortic Arch Interruption

Search GEO for disease gene expression data for Aortic Arch Interruption.

Pathways for Aortic Arch Interruption

GO Terms for Aortic Arch Interruption

Sources for Aortic Arch Interruption

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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