MCID: ART030
MIFTS: 28

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 53 59
Interrupted Aortic Arch 72

Characteristics:

Orphanet epidemiological data:

59
aortic arch interruption
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 34 Q25.4
UMLS via Orphanet 73 C0152419
Orphanet 59 ORPHA2299
UMLS 72 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 Calcium and Calcium, Dietary have been mentioned in the context of this disorder. Affiliated tissues include Neural Crest and Head Mesenchyme.

Wikipedia : 75 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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Calcium Approved, Nutraceutical 7440-70-2 271
2 Calcium, Dietary

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Biventricular Pacing in Children With Wide QRS After Surgery for Congenital Heart Disease Completed NCT02644824
2 Brain Vascular Reactivity to Hypothermic Circulatory Arrest With Antegrade Cerebral Perfusion During Aortic Arch Surgery in Neonates and Infants. Not yet recruiting NCT03047876
3 Incidence of Infection in the Patient With DiGeorge Syndrome Following Surgery for Congenital Heart Disease Terminated NCT00278005
4 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:

41
Heart, Brain, Lung, Kidney, Bone, Eye, 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 1058)
# Title Authors PMID Year
1
Echocardiographic predictors of reoperation for subaortic stenosis in children and adults. 38
30805587 2019
2
Autologous Tissue Reconstruction of Interrupted Aortic Arch Using Aberrant Subclavian Artery. 38
30639364 2019
3
Assessment of intracardiac and extracardiac anomalies associated with coarctation of aorta and interrupted aortic arch using dual-source computed tomography. 38
31406129 2019
4
Tbx1 and Foxi3 genetically interact in the pharyngeal pouch endoderm in a mouse model for 22q11.2 deletion syndrome. 38
31412026 2019
5
Swing-back and trap-door technique repair for interrupted aortic arch with right-sided descending aorta. 38
31317173 2019
6
Direct Arterial Cannulation Allows Easy and Safe Continuous Selective Cerebral Perfusion During Repair of Interrupted Aortic Arch Even for Low Birth Weight Neonates. 38
31307306 2019
7
Image Diagnosis - Interrupted Aortic Arch in a Child With Differential Cyanosis. 38
30787249 2019
8
Aortic atresia with the interrupted aortic arch and an pulmonary-coronary fistula: the unique constellation for survival. 38
30698779 2019
9
Staged Biventricular Repair After Hybrid Procedure in High-Risk Neonates and Infants. 38
31307296 2019
10
Left subclavian to descending aorta bypass: A less invasive extra-anatomical solution for a type A interrupted aortic arch. 38
31344271 2019
11
Patient-specific Computational Hemodynamic Analysis for Interrupted Aortic Arch in an Adult: Implications for Aortic Dissection Initiation. 38
31197221 2019
12
Long-term outcomes following repair of truncus arteriosus and interrupted aortic arch. 38
31209463 2019
13
The Effect of Multidisciplinary Approach on the Birth Rate of Fetuses with Prenatally Diagnosed Congenital Heart Disease. 38
31222983 2019
14
Aortic atresia and interrupted aortic arch communicating through external carotid anastomosis. 38
31122308 2019
15
Self-reported functional health status following interrupted aortic arch repair: A Congenital Heart Surgeons' Society Study. 38
30770109 2019
16
Truncus arteriosus communis associated with interrupted aortic arch - Type B and right aberrant subclavian artery: A rare entity. 38
31027931 2019
17
A case report of interrupted aortic arch without patent ductus arteriosus and with double-outlet right ventricle. 38
30767265 2019
18
Anomalous origin of left vertebral artery from ascending aorta associated with interrupted aortic arch and persistent truncus arteriosus. 38
30714544 2019
19
Biventricular Repair in Interrupted Aortic Arch Type C With Aortic Atresia. 38
28743203 2019
20
In Utero Aortic Arch Thrombosis Masquerading as Interrupted Aortic Arch: A Case Report and Review of the Literature. 38
30734851 2019
21
Staged Repair after Hybrid Palliation for Interrupted Aortic Arch with Systemic Outflow Tract Obstruction. 38
30834215 2019
22
A complex case of aortic arch interruption and hypoplastic descending aorta. 38
30754985 2019
23
[Simple interrupted aortic arch with coronary heart disease in the adult: a case report]. 38
30818943 2019
24
Bronchial compression as adverse effect of right pulmonary artery stenting in a patient with truncus arteriosus communis and interrupted aortic arch. 38
30745775 2019
25
The association between natural gas well activity and specific congenital anomalies in Oklahoma, 1997-2009. 38
30551805 2019
26
How Small Is Too Small? Decision-Making and Management of the Small Aortic Root in the Setting of Interrupted Aortic Arch. 38
31027560 2019
27
How Could Aortic Atresia With Interrupted Aortic Arch Survive? About a Neonatal Repair on Two Ventricles. 38
30031947 2019
28
Case Image: Unicuspid aortic valve concomitant with interrupted aortic arch and severe aortic stenosis in an adult patient. 38
30628908 2019
29
Double Arterial Cannulation in the Critical Management of Neonatal Aortic Arch Obstruction With Closed Ductus Arteriosus. 38
30799710 2019
30
Thoracic Endovascular Aortic Repair for Pseudoaneurysm after Interrupted Aortic Arch Repair. 38
30637014 2018
31
Thoracic endovascular aortic repair of a late aortic aneurysm after patch repair of an interrupted aortic arch. 38
30198454 2018
32
[Short and midterm results of surgical treatment of interrupted aortic arch]. 38
30497119 2018
33
Neonatal Death Caused by Interrupted Aortic Arch Associated With 22q11.2 Deletion Syndrome: An Autopsy Case Report. 38
30562178 2018
34
Transposition of the great arteries: When echocardiography does not match the clinical picture. 38
30160304 2018
35
Utility of a super-flexible three-dimensional printed heart model in congenital heart surgery. 38
29846596 2018
36
An Unusual Combination of Truncus Arteriosus, Interrupted Aortic Arch, and Hypoplastic Left Ventricle. 38
28925321 2018
37
Endothelial Dysfunction of Conduit Arteries in Patients with Repaired Coarctation of the Aorta. 38
30305581 2018
38
Non-anastomotic failure of woven Dacron tube grafts in the thoracic aorta in young adults. 38
30199920 2018
39
Axillo-iliac artery bypass for recurrent aortic coarctation to reduce cardiac afterload. 38
29635435 2018
40
Preoperative Physiology, Imaging, and Management of Interrupted Aortic Arch. 38
29649938 2018
41
Live-Born Major Congenital Heart Disease in Denmark: Incidence, Detection Rate, and Termination of Pregnancy Rate From 1996 to 2013. 38
30027209 2018
42
Perioperative and Anesthetic Considerations in Interrupted Aortic Arch. 38
29742969 2018
43
Distal Aortic Arch Hypoplasia and Coarctation Repair: A Tailored Enlargement Technique. 38
30157733 2018
44
Truncus arteriosus with interrupted aortic arch in very low birth weight infants. 38
27151928 2018
45
Surgical Considerations in Interrupted Aortic Arch. 38
29774793 2018
46
Anatomy of the ventricular septal defect in congenital heart defects: a random association? 38
30021599 2018
47
Tetralogy of Fallot with aortopulmonary window and interrupted aortic arch: multimodality imaging in a rare association. 38
29617968 2018
48
Application of hybrid Stage I palliation for patients with two ventricular cavities and hypoplastic left heart structures. 38
29373649 2018
49
Long-Term Outcome of Interrupted Arch Repair With Direct Anastomosis and Homograft Augmentation Patch. 38
29452118 2018
50
A Double Lane for a Better Circulation: Percutaneous Duplication of the Thoracic Aorta in a Child. 38
29492625 2018

Variations for Aortic Arch Interruption

ClinVar genetic disease variations for Aortic Arch Interruption:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NKX2-5 NM_004387.4(NKX2-5): c.73C> T (p.Arg25Cys) single nucleotide variant Conflicting interpretations of pathogenicity 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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