MCID: ART030
MIFTS: 25

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 20 58 6
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. An important gene associated with Aortic Arch Interruption is NKX2-5 (NK2 Homeobox 5). Affiliated tissues include Head Mesenchyme and Neural Crest.

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

Search Clinical Trials , 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, Eye, Thymus, Smooth Muscle, Endothelial, Trachea
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 Head Mesenchyme Branchial Arch 3,4,6 Cardiac Neural Crest Cells Affected by disease
2 Neural Crest Cardiac Neural Crest Cardiac Neural Crest Cells

Publications for Aortic Arch Interruption

Articles related to Aortic Arch Interruption:

(show top 50) (show all 1128)
# Title Authors PMID Year
1
NKX2.5 mutations in patients with congenital heart disease. 6 61
14607454 2003
2
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. 6
20807224 2011
3
Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease. 6
20456451 2010
4
Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. 6
19948535 2010
5
Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. 6
16418214 2006
6
NKX2.5 mutations in patients with tetralogy of fallot. 6
11714651 2001
7
Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease. 6
10903346 2000
8
Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. 6
10587520 1999
9
An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome. 61
33552636 2021
10
Paradigm Shift in the Management of Isolated Interrupted Aortic Arch in Adulthood. 61
33092852 2021
11
Late Diagnosis of Interrupted Aortic Arch With Massive Collateral Circulation in a Former Competitive Athlete With Early-Onset Hypertension. 61
33504162 2021
12
Congenital Heart Defects and the Risk of Spontaneous Preterm Birth. 61
32980375 2021
13
Isolated interrupted aortic arch in an adult: A case report. 61
33585649 2021
14
Successful Surgical Management of Aortic Arch Thrombosis in the Neonate. 61
32673659 2021
15
Aortic dissection in a young male with isolated interrupted aortic arch: an unusual association. 61
33594854 2021
16
Biventricular Repair in Interrupted Aortic Arch and Ventricular Septal Defect With a Small Left Ventricular Outflow Tract. 61
32599045 2021
17
Berry syndrome: a case report and literature review. 61
33407161 2021
18
Co-occurrence of interrupted aortic arch and Apert syndrome: A case report. 61
33077402 2021
19
Prenatal diagnosis of familial 22q11.2 deletion syndrome in a pregnancy with concomitant cardiac and urinary tract abnormalities in the fetus and the mother. 61
33494995 2021
20
Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development. 61
33432820 2021
21
Persistent common arterial trunk with hexaleaflet truncal valve and intact ventricular septum. 61
33164055 2020
22
Surgical repair in a patient with Berry syndrome. 61
32002749 2020
23
Pulse oximetry screening for detection of congenital heart defects at 1646 m in Albuquerque, New Mexico. 61
32985395 2020
24
Staged surgical repair for infants with interrupted aortic arch. 61
32184038 2020
25
Selective Lesser Curvature Augmentation with Geometric Study for Repair of Aortic Arch Obstruction. 61
33157058 2020
26
Outcomes after common arterial trunk repair: Impact of the surgical technique. 61
33342576 2020
27
Prenatal diagnosis of truncus arteriosus with interrupted aortic arch and abnormal limbs due to an umbilical cord amniotic band: rare entities with an unusual association. 61
33148593 2020
28
Capture rate of congenital heart defects in the Pediatric Health Information System database. 61
32671976 2020
29
Aortic atresia with interrupted aortic arch and bilateral arterial ductus: a successful initial palliation. 61
33198834 2020
30
Composite Subclavian Artery Flap Repair of Truncus Arteriosus-Interrupted Aortic Arch. 61
32353439 2020
31
Giant Pericardial Tube Roll Aneurysm after the Treatment of Aortic Interruption. 61
33368102 2020
32
Successful treatment with positive airway pressure ventilation for tension pneumopericardium after pericardiocentesis in a neonate: a case report. 61
33029685 2020
33
Alternative Access in Congenital Heart Disease. 61
33000000 2020
34
Expanding the phenotype of STRA6-related disorder to include left ventricular non-compaction. 61
32597569 2020
35
Beating heart thoracic aortic surgery under selective myocardial perfusion for patients with congenital aortic anomalies. 61
32034678 2020
36
Truncus arteriosus communis associated with interrupted aortic arch - Type B and right aberrant subclavian artery: A rare entity. 61
31027931 2020
37
Modified Yasui Operation Using Cryopreserved Femoral Vein Homograft. 61
32205114 2020
38
Surgery for Truncus Arteriosus: Contemporary Practice. 61
32828754 2020
39
Right Ventricular Outflow Tract Reconstruction in Infant Truncus Arteriosus: A 37-year Experience. 61
31904368 2020
40
A new borne with very complex aortic anatomy: diagnosis and treatment challenge-case report. 61
32816119 2020
41
The aortic arch in tetralogy of Fallot: types of branching and clinical implications. 61
32638692 2020
42
Off-pump ascending aorta or aortic arch to descending aorta bypass with a pericardial roll for the treatment of critically ill infants with interrupted aortic arch. 61
32618531 2020
43
The prevalence of genetic diagnoses in fetuses with severe congenital heart defects. 61
32341573 2020
44
Two-stage repair of interrupted aortic arch type A: Arch reconstruction and pulmonary artery banding without CPB through a left thoracotomy. 61
32633906 2020
45
Outcomes of Interrupted Aortic Arch Repair in Children With Biventricular Circulation. 61
32721457 2020
46
Truncus Arteriosus With Double Aortic Arch. 61
32645768 2020
47
Primary repair of transposition of the great arteries with an interrupted aortic arch: a case report and literature review. 61
32527284 2020
48
Multiple extremely high-risk endovascular interventions in aortic dissection in an infant with interrupted aortic arch. 61
32189487 2020
49
Arterial-level repair of transposition of great arteries without coronary artery transfer. 61
32207192 2020
50
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

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 Pathogenic 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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