MCID: CRC039
MIFTS: 40

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 58 30 6
Aorta, Coarctation 41
Aorta Coarctation 60

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
? autosomal dominant
most likely multifactorial


HPO:

33

Classifications:



External Ids:

OMIM 58 120000
ICD10 34 Q25.1
MESH via Orphanet 46 C531623 D001017
ICD10 via Orphanet 35 Q25.1
UMLS via Orphanet 75 C0003492 C2930803
Orphanet 60 ORPHA1457
MedGen 43 C0003492

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 Atorvastatin and Bupivacaine have been mentioned in the context of this disorder. Affiliated tissues include heart, endothelial and lung, and related phenotypes are coarctation of the descending aortic arch and abnormal left ventricular outflow tract morphology

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 top 50) (show all 54)
# 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 11.3
4 warfarin syndrome 11.3
5 aortic coarctation 11.1
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 rere-related disorders 10.0
15 double-orifice mitral valve 10.0
16 persistent fifth aortic arch 10.0
17 muscle hypertrophy 9.9
18 congestive heart failure 9.9
19 infective endocarditis 9.9
20 thrombosis 9.9
21 arteries, anomalies of 9.9
22 cornelia de lange syndrome 1 9.9
23 crouzon syndrome 9.9
24 hypercholesterolemia, familial 9.9
25 pheochromocytoma 9.9
26 proteus syndrome 9.9
27 supravalvular aortic stenosis 9.9
28 takayasu arteritis 9.9
29 tricuspid atresia 9.9
30 aortic valve disease 2 9.9
31 pulmonary hypertension 9.9
32 aortic arch interruption 9.9
33 coronary artery anomaly 9.9
34 hemangioma 9.9
35 single ventricular heart 9.9
36 omphalocele 9.9
37 klippel-feil syndrome 9.9
38 pulmonary edema 9.9
39 heart disease 9.9
40 mitral valve insufficiency 9.9
41 cornelia de lange syndrome 9.9
42 facial paralysis 9.9
43 mitral valve stenosis 9.9
44 atrial heart septal defect 9.9
45 subclavian artery aneurysm 9.9
46 subacute bacterial endocarditis 9.9
47 aortitis 9.9
48 situs inversus 9.9
49 localized scleroderma 9.9
50 dextrocardia 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

Human phenotypes related to Coarctation of Aorta:

60 33 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarctation of the descending aortic arch 60 33 obligate (100%) Obligate (100%) HP:0012305
2 abnormal left ventricular outflow tract morphology 33 hallmark (90%) HP:0011103
3 cardiomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0001640
4 bicuspid aortic valve 60 33 frequent (33%) Frequent (79-30%) HP:0001647
5 hypoplastic left heart 60 33 frequent (33%) Frequent (79-30%) HP:0004383
6 coronary artery atherosclerosis 33 frequent (33%) HP:0001677
7 hypertension 60 33 occasional (7.5%) Occasional (29-5%) HP:0000822
8 patent ductus arteriosus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001643
9 congestive heart failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0001635
10 hypoplastic aortic arch 60 33 occasional (7.5%) Occasional (29-5%) HP:0012304
11 persistent left superior vena cava 60 33 occasional (7.5%) Occasional (29-5%) HP:0005301
12 perimembranous ventricular septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0011682
13 pulmonary arterial hypertension 60 33 very rare (1%) Very rare (<4-1%) HP:0002092
14 tetralogy of fallot 60 33 very rare (1%) Very rare (<4-1%) HP:0001636
15 stroke 60 33 very rare (1%) Very rare (<4-1%) HP:0001297
16 aortic valve atresia 60 33 very rare (1%) Very rare (<4-1%) HP:0010883
17 coarctation of aorta 33 HP:0001680
18 interrupted aortic arch 60 Excluded (0%)
19 coronary artery disease 60 Frequent (79-30%)
20 abnormality of the left ventricular outflow tract 60 Very frequent (99-80%)
21 pseudocoarctation of the aorta 60 Excluded (0%)

Symptoms via clinical synopsis from OMIM:

58
Cardiac:
coarctation of aorta
hypoplastic left heart
congenital heart defect
narrow aortic isthmus

Clinical features from OMIM:

120000

Drugs & Therapeutics for Coarctation of Aorta

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

(show top 50) (show all 83)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atorvastatin Approved Phase 4 134523-00-5 60823
2
Bupivacaine Approved, Investigational Phase 4,Phase 1 38396-39-3, 2180-92-9 2474
3
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
4
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
5
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
6
Racepinephrine Approved Phase 4 329-65-7 838
7
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
8
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
9
Sevoflurane Approved, Vet_approved Phase 4,Phase 2 28523-86-6 5206
10
Ropivacaine Approved Phase 4 84057-95-4 175805 71273
11 Antimetabolites Phase 4
12 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
13 Lipid Regulating Agents Phase 4
14 Hypolipidemic Agents Phase 4
15 Anticholesteremic Agents Phase 4
16 Anesthetics, Intravenous Phase 4
17 Excitatory Amino Acids Phase 4
18 Epinephryl borate Phase 4
19 Neuromuscular Nondepolarizing Agents Phase 4
20 Neurotransmitter Agents Phase 4
21 Excitatory Amino Acid Antagonists Phase 4
22 Peripheral Nervous System Agents Phase 4,Phase 1
23 Central Nervous System Depressants Phase 4,Phase 2,Phase 1
24 Platelet Aggregation Inhibitors Phase 4,Phase 2
25 Analgesics Phase 4,Phase 1
26 Anesthetics, Inhalation Phase 4,Phase 2
27 Hypnotics and Sedatives Phase 4
28 Anesthetics Phase 4,Phase 2,Phase 1
29 Anesthetics, Dissociative Phase 4
30 Neuromuscular Agents Phase 4
31 Neuromuscular Blocking Agents Phase 4
32 Adjuvants, Anesthesia Phase 4
33 Anesthetics, Local Phase 4,Phase 1
34 Narcotics Phase 4
35 Anesthetics, General Phase 4,Phase 2
36 Pharmaceutical Solutions Phase 4,Phase 1
37 Analgesics, Opioid Phase 4,Phase 1
38
Furosemide Approved, Vet_approved Phase 2 54-31-9 3440
39
Nitric Oxide Approved Phase 2 10102-43-9 145068
40
Nitroprusside Approved, Investigational Phase 2 15078-28-1 11963622
41
Nitroglycerin Approved, Investigational Phase 2 55-63-0 4510
42 Natriuretic Agents Phase 2
43 diuretics Phase 2
44 Sodium Potassium Chloride Symporter Inhibitors Phase 2
45 Antihypertensive Agents Phase 2
46 Vasodilator Agents Phase 2
47 Nitric Oxide Donors Phase 2
48 Hormones Phase 2,Phase 1
49
Dexamethasone Approved, Investigational, Vet_approved Phase 1 50-02-2 5743
50
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 1 1177-87-3

Interventional clinical trials:

(show all 35)
# 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. Completed 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
35 Genetic and Phenotypic Characteristics of Mitral Valve Prolapse Recruiting NCT03884426

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 30

Anatomical Context for Coarctation of Aorta

MalaCards organs/tissues related to Coarctation of Aorta:

42
Heart, Endothelial, Lung, Thyroid, Kidney, Testes, Spinal Cord

Publications for Coarctation of Aorta

Articles related to Coarctation of Aorta:

(show top 50) (show all 259)
# Title Authors Year
1
Coarctation of aorta aneurysm with aberrant right subclavian artery and single carotid artery: Surgical and perfusion strategies. ( 30385025 )
2019
2
Report of a Coarctation of Aorta Stenting in an Infant. ( 30820431 )
2019
3
18F-Fluorodeoxyglucose Positron Emission Tomography/Computed Tomographic Imaging Detects Aortic Wall Inflammation in Patients With Repaired Coarctation of Aorta. ( 29321213 )
2018
4
A Case of Severe Coarctation of Aorta Associated With Bicuspid Aortic Valve Managed Surgically. ( 29459614 )
2018
5
Prognostic Role of Hypertensive Response to Exercise in Patients With Repaired Coarctation of Aorta. ( 29731027 )
2018
6
Arch Augmentation via Median Sternotomy for Coarctation of Aorta With Proximal Arch Hypoplasia. ( 29753817 )
2018
7
Use of Serratus Plane Block for Repair of Coarctation of Aorta: A Report of 3 Cases. ( 29794944 )
2018
8
Crouzon Syndrome Associated with Congenital Coarctation of Aorta. ( 29893369 )
2018
9
A Variant of Crossed Pulmonary Arteries in Association with Coarctation of Aorta. ( 29904618 )
2018
10
Cerebral Vasculopathy in Coarctation of Aorta-a Rare Association. ( 30093195 )
2018
11
Corkscrewing of retinal arterioles leading to diagnosis of coarctation of aorta. ( 30264739 )
2018
12
Early outcomes of modification of end to side repair of coarctation of aorta with arch hypoplasia in neonates and infants. ( 30271016 )
2018
13
Mahaim fibers coexisting with coarctation of aorta and bicuspid aortic valve. ( 30421621 )
2018
14
Simultaneously surgical management of adult complex coarctation of aorta concomitant with intracardiac abnormality. ( 30505492 )
2018
15
Arterial stiffness in adult patients after coarctation of aorta repair and with bicuspid aortic valve. ( 30507296 )
2018
16
Coarctation of Aorta in Children. ( 30761242 )
2018
17
Pulmonary root translocation for borderline complex coarctation of aorta and multiple ventricular septal defects. ( 27624356 )
2017
18
Automated detection of coarctation of aorta in neonates from two-dimensional echocardiograms. ( 28149925 )
2017
19
Transfemoral balloon angioplasty of severe coarctation of aorta in 1200 g newborn. ( 28163442 )
2017
20
Supersized Atheroma Causing Acquired Coarctation of Aorta Leading to Heart Failure. ( 28203578 )
2017
21
Aneurysmal hemorrhage in a pregnant patient with coarctation of aorta: An anesthetic challenge. ( 28235521 )
2017
22
Midterm to long-term safety and efficacy of self-expandable nitinol stent implantation for coarctation of aorta in adults. ( 28707350 )
2017
23
Combined spinal epidural anaesthesia in a case of primigravida with coarctation of aorta with severe hypertension for elective lower segment caesarean section. ( 28794536 )
2017
24
Paraplegia in Subarachnoid Hemorrhage Complicated With Coarctation of Aorta: An Unusual Complication. ( 28816884 )
2017
25
Modeling of coarctation of aorta in human fetuses using 3D/4D fetal echocardiography and computational fluid dynamics. ( 28833523 )
2017
26
Coarctation of Aorta With Classical Imaging Findings. ( 28864386 )
2017
27
Ductal aneurysm with postsubclavian coarctation of aorta in an adult. ( 28928624 )
2017
28
Mid-Term Outcomes of Repair of Coarctation of Aorta With Hypoplastic Arch: Extended End-to-side Anastomosis Technique. ( 29111297 )
2017
29
Recurrent coarctation of aorta after Norwood operation in single ventricle patients; the case of the missing ideal stent. ( 29148248 )
2017
30
Acute paraplegia in a patient with repaired coarctation of aorta. ( 29185541 )
2017
31
Endovascular Treatment of Distal Aortic Arch Aneurysm Associated with Coarctation of Aorta in a Jehovah's Witness. ( 29276439 )
2017
32
Staged Bentall procedure and extra-anatomical repair of coarctation of aorta. ( 24891257 )
2016
33
Complex coarctation of aorta. ( 24973206 )
2016
34
Importance of Relationship between Ductus and Isthmus in Fetal Diagnosis of Coarctation of Aorta. ( 26667892 )
2016
35
Impairment of arterial elastic properties and elevated circulating levels of transforming growth factor-beta in subjects with repaired coarctation of aorta. ( 26812641 )
2016
36
Massive Gastrointestinal Bleed as Presentation for Previously Undiagnosed Coarctation of Aorta. ( 27028942 )
2016
37
Off-pump midline repair of coarctation of aorta when associated with intracardiac defects: an alternate approach for single-stage correction. ( 27460992 )
2016
38
Percutaneous Stent Placement to Treat Coarctation of Aorta Due to Atresia in Adult Patients. ( 27522278 )
2016
39
Infantile (Preductal) Coarctation of Aorta Presenting as Cerebellar Infarct - A Rare Presentation. ( 27805349 )
2016
40
MRI-based computational fluid dynamics for diagnosis and treatment prediction: clinical validation study in patients with coarctation of aorta. ( 24723299 )
2015
41
Adolescent coarctation of aorta treated with subclavian-descending aorta bypass grafting. ( 25428707 )
2015
42
Surgical treatment for complex coarctation of aorta. ( 25553943 )
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
Giant coronary cameral fistula with coarctation of aorta in a neonate. ( 26085776 )
2015
45
Repair of coarctation of aorta with preservation of blood supply to upper limb. ( 26304571 )
2015
46
Stent Repair for Complex Coarctation of Aorta. ( 26315741 )
2015
47
Paraparesis in Coarctation of Aorta: Diagnosis in Disguise. ( 26612309 )
2015
48
Native coarctation of aorta and large hypertensive patent ductus arteriosus: Management using a covered stent. ( 26995418 )
2015
49
Surgical management of a hypoplastic distal aortic arch and coarctation of aorta in a patient with Klippel-Feil syndrome, ascending aortic aneurysm and bicuspid aortic valve. ( 24981107 )
2014
50
Three-dimensional echocardiographic evaluation of a patient with double-orifice mitral valve, bicuspid aortic valve, and coarctation of aorta. ( 24102729 )
2014

Variations for Coarctation of Aorta

ClinVar genetic disease variations for Coarctation of Aorta:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RYR1 NM_000540.2(RYR1): c.8290G> A (p.Glu2764Lys) single nucleotide variant Uncertain significance rs193922829 GRCh38 Chromosome 19, 38505061: 38505061
2 RYR1 NM_000540.2(RYR1): c.8290G> A (p.Glu2764Lys) single nucleotide variant Uncertain significance rs193922829 GRCh37 Chromosome 19, 38995701: 38995701
3 46;XY;t(1;5)(p35.3;q31.3)dn Translocation Pathogenic
4 46;XY;t(2;14)(p22;q24.3)dn Translocation Likely pathogenic
5 LRRC38; PDPN GRCh37/hg19 1p36.21(chr1: 13801823-14012604) copy number gain Uncertain significance GRCh37 Chromosome 1, 13801823: 14012604
6 OBSL1 NM_015311.3(OBSL1): c.3341G> A (p.Trp1114Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 220423067: 220423067
7 OBSL1 NM_015311.3(OBSL1): c.3341G> A (p.Trp1114Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 219558345: 219558345
8 OBSL1 NM_015311.3(OBSL1): c.2980C> T (p.Arg994Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 220424193: 220424193
9 OBSL1 NM_015311.3(OBSL1): c.2980C> T (p.Arg994Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 219559471: 219559471

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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