MCID: CRC039
MIFTS: 38

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 Bupivacaine and Sevoflurane have been mentioned in the context of this disorder. Affiliated tissues include heart, endothelial and lung, and related phenotypes are hypertension and cardiomegaly

Description from OMIM: 120000

Related Diseases for Coarctation of Aorta

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 81)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bupivacaine Approved, Investigational Phase 4,Phase 1 2180-92-9, 38396-39-3 2474
2
Sevoflurane Approved, Vet_approved Phase 4,Phase 2 28523-86-6 5206
3
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
4
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
5
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
6
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
7
Racepinephrine Approved Phase 4 329-65-7 838
8
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
9
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
10 Analgesics Phase 4,Phase 1
11 Anesthetics Phase 4,Phase 2,Phase 1
12 Anesthetics, General Phase 4,Phase 2
13 Anesthetics, Inhalation Phase 4,Phase 2
14 Anesthetics, Local Phase 4,Phase 1
15 Central Nervous System Depressants Phase 4,Phase 2,Phase 1
16 Neurotransmitter Agents Phase 4
17 Peripheral Nervous System Agents Phase 4,Phase 1
18 Pharmaceutical Solutions Phase 4,Phase 1
19 Platelet Aggregation Inhibitors Phase 4,Phase 2
20 Adjuvants, Anesthesia Phase 4
21 Analgesics, Opioid Phase 4
22 Anesthetics, Dissociative Phase 4
23 Anesthetics, Intravenous Phase 4
24 Epinephryl borate Phase 4
25 Excitatory Amino Acid Antagonists Phase 4
26 Excitatory Amino Acids Phase 4
27 Hypnotics and Sedatives Phase 4
28 Narcotics Phase 4
29 Neuromuscular Agents Phase 4
30 Neuromuscular Blocking Agents Phase 4
31 Neuromuscular Nondepolarizing Agents Phase 4
32 Anticholesteremic Agents Phase 4
33 Antimetabolites Phase 4
34 Atorvastatin Calcium Phase 4 134523-03-8
35 Calcium, Dietary Phase 4
36 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
37 Hypolipidemic Agents Phase 4
38 Lipid Regulating Agents Phase 4
39
Furosemide Approved, Vet_approved Phase 2 54-31-9 3440
40
Nitric Oxide Approved Phase 2 10102-43-9 145068 160954
41
Nitroglycerin Approved, Investigational Phase 2 55-63-0 4510
42
Nitroprusside Approved, Investigational Phase 2 15078-28-1 11963622
43 diuretics Phase 2
44 Natriuretic Agents Phase 2
45 Sodium Potassium Chloride Symporter Inhibitors Phase 2
46 Antihypertensive Agents Phase 2
47 Nitric Oxide Donors Phase 2
48 Vasodilator Agents Phase 2
49 Hormones Phase 2,Phase 1
50
Dexamethasone Approved, Investigational, Vet_approved Phase 1 50-02-2 5743

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 Paravertebral Nerve Blocks in Neonates Recruiting NCT03408340 Phase 4 Standard of Care Anesthesia
2 Statins and Endothelial Function in Patients With Coarctation of the Aorta Terminated NCT00767572 Phase 4 atorvastatin;Sugar pill
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 Coarctation Of the Aorta Stent Trial Completed NCT00552812 Not Applicable
12 Large Diameter Advanta™ V12 Covered Stent Trial for Coarctation of the Aorta Completed NCT00978952 Not Applicable
13 Evaluation of Image-Based Modelling on Clinical Decisions in Coarctation of the Aorta Completed NCT02700737 Not Applicable
14 MRI Assessment of RV Function: Patients With TOF or Aortic Coarctation Completed NCT00277901
15 Evaluation of Vascular Pathology With 3D, Time-Resolved Phase Contrast Magnetic Resonance Imaging (MRI) Completed NCT00722904
16 A Pilot Study of Thrombin Generation Changes in Neonates Undergoing Placement of a Blalock-Taussig Shunt Completed NCT01340378
17 Bupropion & Cardio Birth Defect (Slone) Completed NCT01597661 Exposure to any bupropion during the first trimester;Exposure to bupropion alone during the first trimester
18 Cerebral Perfusion During Neonatal Cardiac Surgery Completed NCT01032876 Not Applicable
19 Longitudinal Study of Neurologic, Cognitive, and Radiologic Outcomes of PHACE Syndrome Completed NCT01018082
20 Study of the Corelation Between Circulating Nuclearsome and SIRS Happened After Congential Cardiac Surgery Completed NCT02325765
21 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
22 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
23 Clinical Assessment of Perfusion Techniques During Repair of Coarctation With Aortic Arch Hypoplasia in Infants Recruiting NCT02835703 Not Applicable
24 Long-term Outcomes and Vascular Evaluation After Coarctation of the Aorta Treatment Recruiting NCT03262753
25 Haemodynamics and Function of the Atria in Congenital Heart Disease by Cardiovascular Magnetic Resonance Recruiting NCT02161471
26 National Congenital Heart Disease Audit Recruiting NCT02303535
27 Genetic Analysis of PHACE Syndrome (Hemangioma With Other Congenital Anomalies) Recruiting NCT01016756
28 Cardiac Remodeling and Circulating Biomarkers in Pediatric Left Ventricular Pressure Loading Lesions Active, not recruiting NCT02545790
29 Cardiovascular Response to Maternal Hyperoxygenation in Fetal Congenital Heart Disease Enrolling by invitation NCT03147014 Not Applicable
30 Antenatal Diagnosis of Coarctations of the Aorta. Not yet recruiting NCT03303768
31 Surgical Outcomes in Pediatric Patients With Coarctation and VSD Terminated NCT00327795
32 Aortic Arch Reconstruction Terminated NCT00277940

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, Endothelial, Lung, Thyroid, Spinal Cord

Publications for Coarctation of Aorta

Articles related to Coarctation of Aorta:

(show top 50) (show all 78)
# 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
Acute paraplegia in a patient with repaired coarctation of aorta. ( 29185541 )
2017
9
Supersized Atheroma Causing Acquired Coarctation of Aorta Leading to Heart Failure. ( 28203578 )
2017
10
Mid-Term Outcomes of Repair of Coarctation of Aorta With Hypoplastic Arch: Extended End-to-side Anastomosis Technique. ( 29111297 )
2017
11
Transfemoral balloon angioplasty of severe coarctation of aorta in 1200 g newborn. ( 28163442 )
2017
12
Combined spinal epidural anaesthesia in a case of primigravida with coarctation of aorta with severe hypertension for elective lower segment caesarean section. ( 28794536 )
2017
13
Automated detection of coarctation of aorta in neonates from two-dimensional echocardiograms. ( 28149925 )
2017
14
Recurrent coarctation of aorta after Norwood operation in single ventricle patients; the case of the missing ideal stent. ( 29148248 )
2017
15
Midterm to long-term safety and efficacy of self-expandable nitinol stent implantation for coarctation of aorta in adults. ( 28707350 )
2017
16
Ductal aneurysm with postsubclavian coarctation of aorta in an adult. ( 28928624 )
2017
17
Modeling of coarctation of aorta in human fetuses using 3D/4D fetal echocardiography and computational fluid dynamics. ( 28833523 )
2017
18
Paraplegia in Subarachnoid Hemorrhage Complicated With Coarctation of Aorta: An Unusual Complication. ( 28816884 )
2017
19
Endovascular Treatment of Distal Aortic Arch Aneurysm Associated with Coarctation of Aorta in a Jehovah's Witness. ( 29276439 )
2017
20
Aneurysmal hemorrhage in a pregnant patient with coarctation of aorta: An anesthetic challenge. ( 28235521 )
2017
21
Coarctation of Aorta With Classical Imaging Findings. ( 28864386 )
2017
22
Impairment of arterial elastic properties and elevated circulating levels of transforming growth factor-beta in subjects with repaired coarctation of aorta. ( 26812641 )
2016
23
Off-pump midline repair of coarctation of aorta when associated with intracardiac defects: an alternate approach for single-stage correction. ( 27460992 )
2016
24
Infantile (Preductal) Coarctation of Aorta Presenting as Cerebellar Infarct - A Rare Presentation. ( 27805349 )
2016
25
Percutaneous Stent Placement to Treat Coarctation of Aorta Due to Atresia in Adult Patients. ( 27522278 )
2016
26
EP04.03: Diagnostic accuracy of fetal echocardiography in detecting coarctation of aorta: a systematic review and meta-analysis. ( 27645231 )
2016
27
Importance of Relationship between Ductus and Isthmus in Fetal Diagnosis of Coarctation of Aorta. ( 26667892 )
2016
28
Massive Gastrointestinal Bleed as Presentation for Previously Undiagnosed Coarctation of Aorta. ( 27028942 )
2016
29
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
30
Pulmonary root translocation for borderline complex coarctation of aorta and multiple ventricular septal defects. ( 27624356 )
2016
31
Paraparesis in Coarctation of Aorta: Diagnosis in Disguise. ( 26612309 )
2015
32
Giant coronary cameral fistula with coarctation of aorta in a neonate. ( 26085776 )
2015
33
1264: FAMILIAL SPINOCEREBELLAR ATAXIA TYPE 7: A NEW INFANTILE PRESENTATION WITH COARCTATION OF AORTA. ( 26570925 )
2015
34
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
35
Native coarctation of aorta and large hypertensive patent ductus arteriosus: Management using a covered stent. ( 26995418 )
2015
36
Stent Repair for Complex Coarctation of Aorta. ( 26315741 )
2015
37
Adolescent coarctation of aorta treated with subclavian-descending aorta bypass grafting. ( 25428707 )
2015
38
Repair of coarctation of aorta with preservation of blood supply to upper limb. ( 26304571 )
2015
39
Surgical treatment for complex coarctation of aorta. ( 25553943 )
2015
40
Endothelial function in contemporary patients with repaired coarctation of aorta. ( 25095828 )
2014
41
Three-dimensional echocardiographic evaluation of a patient with double-orifice mitral valve, bicuspid aortic valve, and coarctation of aorta. ( 24102729 )
2014
42
Single therapeutic catheterization for treatment of late diagnosed native coarctation of aorta using a covered stent. ( 24783116 )
2014
43
Real time three-dimensional transthoracic echocardiography in assessment of stented coarctation of aorta: a case-based presentation. ( 25231011 )
2014
44
Low plasma renalase concentration in hypertensive patients after surgical repair of coarctation of aorta. ( 25064768 )
2014
45
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
46
Procedural Outcome and One Year Follow up of Patients Undergoing Endovascular Stenting for Coarctation of Aorta: A Single Center Study. ( 25031828 )
2014
47
An adult patient with coexistence of coarctation of aorta and patent ductus arteriosus: multimodality imaging. ( 24064097 )
2013
48
Juvenile severe mitral stenosis predisposing Eisenmenger syndrome inA a case with ventricular septal defect, patent ductus arteriosus, coarctation of aorta &amp;amp; hypoplastic aortic arch: Report of first case ofA rare association. ( 24396261 )
2013
49
A rare case of ventricular septal defect associated with patent ductus arteriosus and coarctation of aorta: a multimodality approach. ( 23622510 )
2013
50
Adult coarctation of aorta with postcoarct dissecting aortic aneurysm successfully repaired under circulatory arrest. ( 23535040 )
2013

Variations for Coarctation of Aorta

ClinVar genetic disease variations for Coarctation of Aorta:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 46;XY;t(1;5)(p35.3;q31.3)dn Translocation Pathogenic
2 46;XY;t(2;14)(p22;q24.3)dn Translocation Likely pathogenic
3 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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