MCID: CRC039
MIFTS: 39

Coarctation of Aorta

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Coarctation of Aorta

MalaCards integrated aliases for Coarctation of Aorta:

Name: Coarctation of Aorta 57 29 6
Aorta, Coarctation 40
Aorta Coarctation 59

Characteristics:

Orphanet epidemiological data:

59
aorta coarctation
Prevalence: 1-5/10000 (Europe),6-9/10000 (Austria),1-5/10000 (Belgium),1-5/10000 (Croatia),1-5/10000 (Denmark),1-5/10000 (France),1-5/10000 (Germany),1-5/10000 (Hungary),1-5/10000 (Ireland),1-5/10000 (Italy),1-5/10000 (Malta),1-5/10000 (Netherlands),1-5/10000 (Norway),1-9/100000 (Poland),1-9/100000 (Portugal),1-5/10000 (Spain),1-5/10000 (Switzerland),1-5/10000 (United Kingdom),1-5/10000 (Ukraine); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
? autosomal dominant
most likely multifactorial


Classifications:



External Ids:

OMIM 57 120000
Orphanet 59 ORPHA1457
MESH via Orphanet 45 D001017 C531623
UMLS via Orphanet 74 C0003492 C2930803
ICD10 via Orphanet 34 Q25.1
MedGen 42 C0003492
ICD10 33 Q25.1

Summaries for Coarctation of Aorta

MalaCards based summary : Coarctation of Aorta, also known as aorta, coarctation, is related to autosomal dominant coarctation of aorta and atypical coarctation of aorta. An important gene associated with Coarctation of Aorta is SELE (Selectin E). The drugs Epinephrine and Propofol have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and eye, and related phenotypes are hypertension and cardiomegaly

Description from OMIM: 120000

Related Diseases for Coarctation of Aorta

Diseases in the Coarctation of Aorta family:

Autosomal Dominant Coarctation of Aorta

Diseases related to Coarctation of Aorta via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant coarctation of aorta 12.5
2 atypical coarctation of aorta 12.5
3 chondrodysplasia, blomstrand type 11.2
4 warfarin syndrome 11.2
5 aortic coarctation 10.8
6 patent ductus arteriosus 1 10.4
7 aortic valve disease 1 10.4
8 ventricular septal defect 10.3
9 endocarditis 10.1
10 intracranial aneurysm 10.0
11 hereditary spherocytosis 10.0
12 aortic aneurysm 10.0
13 paraplegia 10.0
14 double-orifice mitral valve 10.0
15 persistent fifth aortic arch 10.0
16 arteries, anomalies of 9.9
17 cornelia de lange syndrome 1 9.9
18 crouzon syndrome 9.9
19 hypercholesterolemia, familial 9.9
20 spinocerebellar ataxia 7 9.9
21 pheochromocytoma 9.9
22 proteus syndrome 9.9
23 supravalvular aortic stenosis 9.9
24 takayasu arteritis 9.9
25 tricuspid atresia 9.9
26 aortic valve disease 2 9.9
27 pulmonary hypertension 9.9
28 aortic arch interruption 9.9
29 coronary artery anomaly 9.9
30 hemangioma 9.9
31 omphalocele 9.9
32 klippel-feil syndrome 9.9
33 pulmonary edema 9.9
34 heart disease 9.9
35 mitral valve insufficiency 9.9
36 cornelia de lange syndrome 9.9
37 facial paralysis 9.9
38 autosomal dominant cerebellar ataxia 9.9
39 atrial heart septal defect 9.9
40 subclavian artery aneurysm 9.9
41 subacute bacterial endocarditis 9.9
42 aortitis 9.9
43 situs inversus 9.9
44 localized scleroderma 9.9
45 dextrocardia 9.9
46 aneurysm of sinus of valsalva 9.9
47 dextrocardia with situs inversus 9.9
48 eisenmenger syndrome 9.9
49 right aortic arch 9.9

Graphical network of the top 20 diseases related to Coarctation of Aorta:



Diseases related to Coarctation of Aorta

Symptoms & Phenotypes for Coarctation of Aorta

Symptoms via clinical synopsis from OMIM:

57
Cardiac:
coarctation of aorta
hypoplastic left heart
congenital heart defect
narrow aortic isthmus


Clinical features from OMIM:

120000

Human phenotypes related to Coarctation of Aorta:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
2 cardiomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001640
3 pulmonary arterial hypertension 59 32 very rare (1%) Very rare (<4-1%) HP:0002092
4 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
5 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
6 bicuspid aortic valve 59 32 frequent (33%) Frequent (79-30%) HP:0001647
7 hypoplastic left heart 59 32 frequent (33%) Frequent (79-30%) HP:0004383
8 tetralogy of fallot 59 32 very rare (1%) Very rare (<4-1%) HP:0001636
9 stroke 59 32 very rare (1%) Very rare (<4-1%) HP:0001297
10 hypoplastic aortic arch 59 32 occasional (7.5%) Occasional (29-5%) HP:0012304
11 persistent left superior vena cava 59 32 occasional (7.5%) Occasional (29-5%) HP:0005301
12 coarctation of the descending aortic arch 59 32 obligate (100%) Obligate (100%) HP:0012305
13 abnormality of the left ventricular outflow tract 59 32 hallmark (90%) Very frequent (99-80%) HP:0011103
14 perimembranous ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0011682
15 aortic valve atresia 59 32 very rare (1%) Very rare (<4-1%) HP:0010883
16 coarctation of aorta 32 HP:0001680
17 interrupted aortic arch 59 Excluded (0%)
18 coronary artery disease 59 Frequent (79-30%)
19 pseudocoarctation of the aorta 59 Excluded (0%)
20 coronary artery atherosclerosis 32 frequent (33%) HP:0001677

Drugs & Therapeutics for Coarctation of Aorta

Drugs for Coarctation of Aorta (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 84)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
2
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
3
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
4
Bupivacaine Approved, Investigational Phase 4,Phase 1 2180-92-9, 38396-39-3 2474
5
Ropivacaine Approved Phase 4 84057-95-4 175805 71273
6
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
7
Sevoflurane Approved, Vet_approved Phase 4,Phase 2 28523-86-6 5206
8
Racepinephrine Approved Phase 4 329-65-7 838
9
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
10 Hypolipidemic Agents Phase 4
11 Anticholesteremic Agents Phase 4
12 Antimetabolites Phase 4
13 Atorvastatin Calcium Phase 4 134523-03-8
14 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
15 Lipid Regulating Agents Phase 4
16 Calcium, Dietary Phase 4
17 Adjuvants, Anesthesia Phase 4
18 Anesthetics Phase 4,Phase 2,Phase 1
19 Anesthetics, Dissociative Phase 4
20 Excitatory Amino Acids Phase 4
21 Anesthetics, Local Phase 4,Phase 1
22 Analgesics Phase 4,Phase 1
23 Neurotransmitter Agents Phase 4
24 Anesthetics, Intravenous Phase 4
25 Neuromuscular Blocking Agents Phase 4
26 Anesthetics, Inhalation Phase 4,Phase 2
27 Pharmaceutical Solutions Phase 4,Phase 1
28 Excitatory Amino Acid Antagonists Phase 4
29 Platelet Aggregation Inhibitors Phase 4,Phase 2
30 Narcotics Phase 4
31 Central Nervous System Depressants Phase 4,Phase 2,Phase 1
32 Anesthetics, General Phase 4,Phase 2
33 Neuromuscular Agents Phase 4
34 Neuromuscular Nondepolarizing Agents Phase 4
35 Epinephryl borate Phase 4
36 Hypnotics and Sedatives Phase 4
37 Peripheral Nervous System Agents Phase 4,Phase 1
38 Analgesics, Opioid Phase 4,Phase 1
39
Furosemide Approved, Vet_approved Phase 2 54-31-9 3440
40
Nitroglycerin Approved, Investigational Phase 2 55-63-0 4510
41
Nitroprusside Approved, Investigational Phase 2 15078-28-1 11963622
42
Nitric Oxide Approved Phase 2 10102-43-9 145068
43 Natriuretic Agents Phase 2
44 Sodium Potassium Chloride Symporter Inhibitors Phase 2
45 diuretics Phase 2
46 Vasodilator Agents Phase 2
47 Nitric Oxide Donors Phase 2
48 Antihypertensive Agents Phase 2
49 Hormones Phase 2,Phase 1
50
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 1 1177-87-3

Interventional clinical trials:

(show all 34)
# Name Status NCT ID Phase Drugs
1 Statins and Endothelial Function in Patients With Coarctation of the Aorta Terminated NCT00767572 Phase 4 atorvastatin;Sugar pill
2 Paravertebral Nerve Blocks in Neonates Recruiting NCT03408340 Phase 4 Standard of Care Anesthesia
3 Covered CP Stents for the Prevention or Treatment of Aortic Wall Injury Associated With Coarctation of the Aorta Completed NCT01278303 Phase 2
4 Furosemide and Coarctation Surgery Lung Complications Completed NCT03364842 Phase 2 Furosemide
5 Effect of Strategy for Blood Pressure Control on Cerebral Oxygen Balance During Aortic Coarctation Repair: A Randomized Study Completed NCT00535808 Phase 2 nitroprusside;nitroglycerine;sevoflurane
6 Can Oral T3 Normalize Thyroid Hormone Levels Following Cardiopulmonary Bypass in Children? Completed NCT01780584 Phase 2 Oral T3 Low dose;Placebo;Oral T3 high dose
7 The Effect of Paravertebral Block With Dexamethasone on Intraoperative and Postoperative Analgesia in Children Undergoing Surgery for Coarctation of Aorta Completed NCT03074773 Phase 1 Dexamethasone;Bupivacaine
8 Radiation-Free Heart Catheterization Using MRI Recruiting NCT02739087 Phase 1
9 Proof of Concept of Model Based Cardiovascular Prediction Unknown status NCT02591940
10 T1 Mapping of Diffuse Myocardial Fibrosis in Congenital Heart Disease Unknown status NCT02350829 Not Applicable
11 National Congenital Heart Disease Audit Unknown status NCT02303535
12 Clinical Assessment of Perfusion Techniques During Repair of Coarctation With Aortic Arch Hypoplasia in Infants Recruiting NCT02835703 Not Applicable
13 Antenatal Diagnosis of Coarctations of the Aorta. Not yet recruiting NCT03303768
14 Coarctation Of the Aorta Stent Trial Completed NCT00552812 Not Applicable
15 Long-term Outcomes and Vascular Evaluation After Coarctation of the Aorta Treatment Recruiting NCT03262753
16 Large Diameter Advanta™ V12 Covered Stent Trial for Coarctation of the Aorta Completed NCT00978952 Not Applicable
17 Evaluation of Image-Based Modelling on Clinical Decisions in Coarctation of the Aorta Completed NCT02700737 Not Applicable
18 Surgical Outcomes in Pediatric Patients With Coarctation and VSD Terminated NCT00327795
19 MRI Assessment of RV Function: Patients With TOF or Aortic Coarctation Completed NCT00277901
20 Evaluation of Vascular Pathology With 3D, Time-Resolved Phase Contrast Magnetic Resonance Imaging (MRI) Completed NCT00722904
21 Cardiac Remodeling and Circulating Biomarkers in Pediatric Left Ventricular Pressure Loading Lesions Active, not recruiting NCT02545790
22 A Pilot Study of Thrombin Generation Changes in Neonates Undergoing Placement of a Blalock-Taussig Shunt Completed NCT01340378
23 Haemodynamics and Function of the Atria in Congenital Heart Disease by Cardiovascular Magnetic Resonance Recruiting NCT02161471
24 Bupropion & Cardio Birth Defect (Slone) Completed NCT01597661 Exposure to any bupropion during the first trimester;Exposure to bupropion alone during the first trimester
25 Cerebral Perfusion During Neonatal Cardiac Surgery Completed NCT01032876 Not Applicable
26 Cardiovascular Response to Maternal Hyperoxygenation in Fetal Congenital Heart Disease Recruiting NCT03147014 Not Applicable
27 Aortic Arch Reconstruction Terminated NCT00277940
28 X-ray Fluoroscopy Fused With Computed Tomography (XFC) Technical Development Completed NCT00965679
29 Longitudinal Study of Neurologic, Cognitive, and Radiologic Outcomes of PHACE Syndrome Completed NCT01018082
30 Study of the Corelation Between Circulating Nuclearsome and SIRS Happened After Congential Cardiac Surgery Completed NCT02325765
31 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
32 Long Term Results in Hypoplastic Aortic Arch Repair in Neonates Using a Glutaraldehyde Treated Autologous Pericardial Patch Recruiting NCT03588312
33 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
34 Genetic Analysis of PHACE Syndrome (Hemangioma With Other Congenital Anomalies) Recruiting NCT01016756

Search NIH Clinical Center for Coarctation of Aorta

Genetic Tests for Coarctation of Aorta

Genetic tests related to Coarctation of Aorta:

# Genetic test Affiliating Genes
1 Coarctation of Aorta 29

Anatomical Context for Coarctation of Aorta

MalaCards organs/tissues related to Coarctation of Aorta:

41
Heart, Brain, Eye, Endothelial, Lung, Kidney, Spinal Cord

Publications for Coarctation of Aorta

Articles related to Coarctation of Aorta:

(show top 50) (show all 260)
# Title Authors Year
1
Prognostic Role of Hypertensive Response to Exercise in Patients With Repaired Coarctation of Aorta. ( 29731027 )
2018
2
Use of Serratus Plane Block for Repair of Coarctation of Aorta: A Report of 3 Cases. ( 29794944 )
2018
3
18F-Fluorodeoxyglucose Positron Emission Tomography/Computed Tomographic Imaging Detects Aortic Wall Inflammation in Patients With Repaired Coarctation of Aorta. ( 29321213 )
2018
4
Crouzon Syndrome Associated with Congenital Coarctation of Aorta. ( 29893369 )
2018
5
Arch Augmentation via Median Sternotomy for Coarctation of Aorta with Proximal Arch Hypoplasia. ( 29753817 )
2018
6
A Case of Severe Coarctation of Aorta Associated With Bicuspid Aortic Valve Managed Surgically. ( 29459614 )
2018
7
A Variant of Crossed Pulmonary Arteries in Association with Coarctation of Aorta. ( 29904618 )
2018
8
Cerebral Vasculopathy in Coarctation of Aorta-a Rare Association. ( 30093195 )
2018
9
Corkscrewing of retinal arterioles leading to diagnosis of coarctation of aorta. ( 30264739 )
2018
10
Early outcomes of modification of end to side repair of coarctation of aorta with arch hypoplasia in neonates and infants. ( 30271016 )
2018
11
Coarctation of aorta aneurysm with aberrant right subclavian artery and single carotid artery: Surgical and perfusion strategies. ( 30385025 )
2018
12
Mahaim fibers coexisting with coarctation of aorta and bicuspid aortic valve. ( 30421621 )
2018
13
Simultaneously surgical management of adult complex coarctation of aorta concomitant with intracardiac abnormality. ( 30505492 )
2018
14
Arterial stiffness in adult patients after coarctation of aorta repair and with bicuspid aortic valve. ( 30507296 )
2018
15
Acute paraplegia in a patient with repaired coarctation of aorta. ( 29185541 )
2017
16
Supersized Atheroma Causing Acquired Coarctation of Aorta Leading to Heart Failure. ( 28203578 )
2017
17
Mid-Term Outcomes of Repair of Coarctation of Aorta With Hypoplastic Arch: Extended End-to-side Anastomosis Technique. ( 29111297 )
2017
18
Transfemoral balloon angioplasty of severe coarctation of aorta in 1200 g newborn. ( 28163442 )
2017
19
Combined spinal epidural anaesthesia in a case of primigravida with coarctation of aorta with severe hypertension for elective lower segment caesarean section. ( 28794536 )
2017
20
Automated detection of coarctation of aorta in neonates from two-dimensional echocardiograms. ( 28149925 )
2017
21
Recurrent coarctation of aorta after Norwood operation in single ventricle patients; the case of the missing ideal stent. ( 29148248 )
2017
22
Midterm to long-term safety and efficacy of self-expandable nitinol stent implantation for coarctation of aorta in adults. ( 28707350 )
2017
23
Ductal aneurysm with postsubclavian coarctation of aorta in an adult. ( 28928624 )
2017
24
Modeling of coarctation of aorta in human fetuses using 3D/4D fetal echocardiography and computational fluid dynamics. ( 28833523 )
2017
25
Paraplegia in Subarachnoid Hemorrhage Complicated With Coarctation of Aorta: An Unusual Complication. ( 28816884 )
2017
26
Endovascular Treatment of Distal Aortic Arch Aneurysm Associated with Coarctation of Aorta in a Jehovah's Witness. ( 29276439 )
2017
27
Aneurysmal hemorrhage in a pregnant patient with coarctation of aorta: An anesthetic challenge. ( 28235521 )
2017
28
Coarctation of Aorta With Classical Imaging Findings. ( 28864386 )
2017
29
Impairment of arterial elastic properties and elevated circulating levels of transforming growth factor-beta in subjects with repaired coarctation of aorta. ( 26812641 )
2016
30
Off-pump midline repair of coarctation of aorta when associated with intracardiac defects: an alternate approach for single-stage correction. ( 27460992 )
2016
31
Infantile (Preductal) Coarctation of Aorta Presenting as Cerebellar Infarct - A Rare Presentation. ( 27805349 )
2016
32
Percutaneous Stent Placement to Treat Coarctation of Aorta Due to Atresia in Adult Patients. ( 27522278 )
2016
33
EP04.03: Diagnostic accuracy of fetal echocardiography in detecting coarctation of aorta: a systematic review and meta-analysis. ( 27645231 )
2016
34
Importance of Relationship between Ductus and Isthmus in Fetal Diagnosis of Coarctation of Aorta. ( 26667892 )
2016
35
Massive Gastrointestinal Bleed as Presentation for Previously Undiagnosed Coarctation of Aorta. ( 27028942 )
2016
36
Severe coarctation of aorta with bicuspid aortic valve presenting at an atypical age and treated with covered stent followed by Bentall procedure: A case report. ( 27727582 )
2016
37
Pulmonary root translocation for borderline complex coarctation of aorta and multiple ventricular septal defects. ( 27624356 )
2016
38
Staged Bentall procedure and extra-anatomical repair of coarctation of aorta. ( 24891257 )
2016
39
Complex coarctation of aorta. ( 24973206 )
2016
40
Paraparesis in Coarctation of Aorta: Diagnosis in Disguise. ( 26612309 )
2015
41
Giant coronary cameral fistula with coarctation of aorta in a neonate. ( 26085776 )
2015
42
1264: FAMILIAL SPINOCEREBELLAR ATAXIA TYPE 7: A NEW INFANTILE PRESENTATION WITH COARCTATION OF AORTA. ( 26570925 )
2015
43
Diagnostic Value of Transthoracic Echocardiography in Patients with Coarctation of Aorta: The Chinese Experience in 53 Patients Studied between 2008 and 2012 in One Major Medical Center. ( 26030197 )
2015
44
Native coarctation of aorta and large hypertensive patent ductus arteriosus: Management using a covered stent. ( 26995418 )
2015
45
Stent Repair for Complex Coarctation of Aorta. ( 26315741 )
2015
46
Adolescent coarctation of aorta treated with subclavian-descending aorta bypass grafting. ( 25428707 )
2015
47
Repair of coarctation of aorta with preservation of blood supply to upper limb. ( 26304571 )
2015
48
Surgical treatment for complex coarctation of aorta. ( 25553943 )
2015
49
MRI-based computational fluid dynamics for diagnosis and treatment prediction: clinical validation study in patients with coarctation of aorta. ( 24723299 )
2015
50
Endothelial function in contemporary patients with repaired coarctation of aorta. ( 25095828 )
2014

Variations for Coarctation of Aorta

ClinVar genetic disease variations for Coarctation of Aorta:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LRRC38; PDPN GRCh37/hg19 1p36.21(chr1: 13801823-14012604) copy number gain Uncertain significance GRCh37 Chromosome 1, 13801823: 14012604

Expression for Coarctation of Aorta

Search GEO for disease gene expression data for Coarctation of Aorta.

Pathways for Coarctation of Aorta

GO Terms for Coarctation of Aorta

Sources for Coarctation of Aorta

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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