MCID: CNG134
MIFTS: 31

Congenitally Corrected Transposition of the Great Arteries

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Congenitally Corrected Transposition of the Great Arteries

MalaCards integrated aliases for Congenitally Corrected Transposition of the Great Arteries:

Name: Congenitally Corrected Transposition of the Great Arteries 53 59 37
Congenitally Corrected Transposition of the Great Vessels 53 59
Discordant Ventriculoarterial and Atrioventricular Connections 59
Transposition of the Great Arteries, Congenitally Corrected 53
Transposition of the Great Vessels, Congenitally Corrected 53
Ventriculoarterial and Atrioventricular Discordance 59
Levo-Transposition of the Great Arteries 59
L-Transposition of the Great Arteries 59
Ventricular Inversion 59
Double Discordance 59

Characteristics:

Orphanet epidemiological data:

59
congenitally corrected transposition of the great arteries
Inheritance: Not applicable; Prevalence: 1-9/100000 (Worldwide); Age of onset: All ages; Age of death: any age;

Classifications:



External Ids:

KEGG 37 H01786
MESH via Orphanet 45 C535426
ICD10 via Orphanet 34 Q20.5
UMLS via Orphanet 73 C0344616
Orphanet 59 ORPHA216694

Summaries for Congenitally Corrected Transposition of the Great Arteries

KEGG : 37
Congenitally corrected transposition of the great arteries is a rare cardiac defect characterized by characterised by the combination of atrioventricular (AV) discordance and ventriculo-arterial (VA) discordance. The morphologic left ventricle and mitral valve supply the pulmonary circulation and the morphologic right ventricle and tricuspid valve supply the systemic circulation. The anatomy is described as congenitally 'corrected' because the flow of blood is normal with the deoxygenated systemic venous blood being pumped to the lungs and the well oxygenated pulmonary venous blood being pumped to the body. More than 90% of patients have additional anatomical abnormalities. The most frequent are ventricular septal defects, left ventricular outflow tract obstruction, and abnormalities of the tricuspid valve.

MalaCards based summary : Congenitally Corrected Transposition of the Great Arteries, also known as congenitally corrected transposition of the great vessels, is related to cardiac arrest and acute myocardial infarction. An important gene associated with Congenitally Corrected Transposition of the Great Arteries is NPPB (Natriuretic Peptide B). The drugs Tadalafil and Phosphodiesterase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and atrioventricular node.

NIH Rare Diseases : 53 Congenitally corrected transposition of the great arteries is a rare heart defect that occurs when the ventricles and attached valves are switched. As a result, the aorta and the pulmonary artery are connected to the wrong lower heart chambers. Click here to visit MayoClinic.com and view an image of this heart defect. While the oxygen-poor blood still flows to the lungs, and oxygen-rich blood still flows out to nourish the body, other heart problems (such as septal defects, pulmonary stenosis, tricuspid regurgitation, and heart block) are often associated with this defect and require treatment.

Wikipedia : 75 Levo-Transposition of the great arteries is an acyanotic congenital heart defect in which the primary... more...

Related Diseases for Congenitally Corrected Transposition of the Great Arteries

Diseases related to Congenitally Corrected Transposition of the Great Arteries via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 94)
# Related Disease Score Top Affiliating Genes
1 cardiac arrest 30.0 TNNT2 NPPB
2 acute myocardial infarction 29.7 TNNT2 NPPB
3 coronary artery anomaly 29.5 TNNT2 NPPB
4 myocardial infarction 29.3 TNNT2 NPPB
5 double discordia 11.3
6 transposition of the great arteries 11.3
7 heart septal defect 11.0
8 ventricular septal defect 11.0
9 tricuspid valve insufficiency 10.9
10 atrioventricular block 10.7
11 dextrocardia 10.7
12 situs inversus 10.7
13 congestive heart failure 10.6
14 dextrocardia with situs inversus 10.6
15 mitral valve insufficiency 10.5
16 single ventricular heart 10.5
17 pulmonic stenosis 10.5
18 atrial heart septal defect 10.5
19 cyanosis, transient neonatal 10.5
20 aortic valve insufficiency 10.4
21 pulmonary valve stenosis 10.4
22 aortic coarctation 10.4
23 mesocardia 10.4
24 sinoatrial node disease 10.3
25 sick sinus syndrome 10.3
26 double outlet right ventricle 10.3
27 subpulmonary stenosis 10.3
28 aortic valve disease 1 10.2
29 progressive familial heart block, type ia 10.2
30 pulmonary hypertension, primary, 1 10.2
31 heart block, congenital 10.2
32 patent ductus arteriosus 1 10.2
33 pulmonary hypertension 10.2
34 tricuspid valve disease 10.2
35 left bundle branch hemiblock 10.2
36 patent foramen ovale 10.2
37 ischemia 10.2
38 cor triatriatum 10.2
39 aneurysm 10.2
40 syncope 10.2
41 unclassified cardiomyopathy 10.2
42 hydrops, lactic acidosis, and sideroblastic anemia 10.2
43 respiratory failure 10.2
44 pericarditis 10.1
45 interatrial communication 10.1
46 right aortic arch 10.1
47 endocardial fibroelastosis 10.1
48 pre-eclampsia 10.1
49 severe pre-eclampsia 10.1
50 cardiac arrhythmia 10.1

Graphical network of the top 20 diseases related to Congenitally Corrected Transposition of the Great Arteries:



Diseases related to Congenitally Corrected Transposition of the Great Arteries

Symptoms & Phenotypes for Congenitally Corrected Transposition of the Great Arteries

Drugs & Therapeutics for Congenitally Corrected Transposition of the Great Arteries

Drugs for Congenitally Corrected Transposition of the Great Arteries (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tadalafil Approved, Investigational Phase 3 171596-29-5 110635
2 Phosphodiesterase Inhibitors Phase 3
3 Phosphodiesterase 5 Inhibitors Phase 3
4 Vasodilator Agents Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Phosphodiesterase-5 Inhibition With Tadalafil on SystEmic Right VEntricular Size and Function - a Multi-center, Double-blind, Randomized, Placebo-controlled Clinical Trial - SERVE Trial Active, not recruiting NCT03049540 Phase 3 Tadalafil 20 MG;Placebo 20 MG
2 Follow up of Adults With Congenitally Malformed Hearts With Focus on Computer-Based Education and Psychosocial Support Completed NCT01234753
3 Study of Adaptation of the Right Ventricle to Systemic Afterload Completed NCT02066506
4 Sudden Cardiac Death in Congenital Heart Diseases With a Systemic Right Ventricle Recruiting NCT03833843

Search NIH Clinical Center for Congenitally Corrected Transposition of the Great Arteries

Genetic Tests for Congenitally Corrected Transposition of the Great Arteries

Anatomical Context for Congenitally Corrected Transposition of the Great Arteries

MalaCards organs/tissues related to Congenitally Corrected Transposition of the Great Arteries:

41
Heart, Lung, Atrioventricular Node, Brain, Testes, Pituitary

Publications for Congenitally Corrected Transposition of the Great Arteries

Articles related to Congenitally Corrected Transposition of the Great Arteries:

(show top 50) (show all 515)
# Title Authors PMID Year
1
Exploring the Prognostic Value of Novel Markers in Adults With a Systemic Right Ventricle. 38
31431113 2019
2
Ventricular assist device implantation in patients with a failing systemic right ventricle: a call to expand current practice. 38
31420818 2019
3
Successful staged tricuspid valve replacement following cardiac resynchronization therapy in a congenitally corrected transposition of the great arteries. 38
31428373 2019
4
Congenitally corrected transposition of the great arteries in a 69-year-old woman. 38
31302072 2019
5
Postoperative and short-term atrial tachyarrhythmia burdens after transcatheter vs surgical pulmonary valve replacement among congenital heart disease patients. 38
31282099 2019
6
Hemodynamically balanced congenitally corrected transposition of the great arteries with a large ventricular septal defect, and subvalvular pulmonic stenosis: a case report. 38
31319891 2019
7
The impact of pulmonary artery banding and cardiac resynchronization therapy for the adult patient with congenitally corrected transposition of the great arteries. 38
31286415 2019
8
Ventricular assist device in a patient with congenitally corrected transposition of the great arteries and situs inversus totalis. 38
30630389 2019
9
Congenitally corrected transposition of the great vessels: evaluation with cardiac magnetic resonance imaging after double-switch repair. 38
30527267 2019
10
3D Printing to Model Surgical Repair of Complex Congenitally Corrected Transposition of the Great Arteries. 38
28825385 2019
11
Pulmonary Artery Banding for Congenitally Corrected Transposition of the Great Arteries With Hydrops Fetalis: A Case Report. 38
31018764 2019
12
Medical Therapy for Systemic Right Ventricles: A Systematic Review (Part 1) for the 2018 AHA/ACC Guideline for the Management of Adults With Congenital Heart Disease: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. 38
30586770 2019
13
Medical Therapy for Systemic Right Ventricles: A Systematic Review (Part 1) for the 2018 AHA/ACC Guideline for the Management of Adults With Congenital Heart Disease: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. 38
30121238 2019
14
Fate of the Left Ventricular Outflow Tract After Rastelli With Selective Infundibular Muscle Resection. 38
30529669 2019
15
[Congenitally Corrected Transposition of the Great Arteries( TGA) in Adult]. 38
31266912 2019
16
Successful Left Ventricular Lead Placement in Congenitally Corrected Transposition of the Great Arteries and Situs Inversus. 38
30898247 2019
17
[Valve Replacement for Tricuspid Regurgitation with Congenitally Corrected Transposition of the Great Arteries]. 38
30923295 2019
18
Clinical Evaluation of Exercise Capacity in Adults with Systemic Right Ventricle. 38
30833832 2019
19
Bridge to Transplantation With Long-Term Mechanical Assist Devices in Adults With Transposition of the Great Arteries. 38
30129258 2019
20
Mechanical Support for Patients With Congenitally Corrected Transposition of the Great Arteries and End-Stage Ventricular Dysfunction. 38
31027567 2019
21
Congenitally Corrected Transposition of the Great Arteries: Anatomic, Physiologic Repair, and Palliation. 38
31027562 2019
22
Cardiac resynchronization therapy in congenital heart disease: Results from the German National Register for Congenital Heart Defects. 38
30297188 2018
23
Implantation techniques and outcomes after cardiac resynchronization therapy for congenitally corrected transposition of the great arteries. 38
30125719 2018
24
Ventricular arrhythmia burden after transcatheter versus surgical pulmonary valve replacement. 38
29636402 2018
25
Cryoablation for Perinodal Arrhythmia Substrates in Patients With Congenital Heart Disease and Displaced Atrioventricular Conduction Systems. 38
30336879 2018
26
A Rare Combination of Congenitally Corrected Transposition of the Great Arteries with Pulmonary Artery Aneurysm. 38
30370391 2018
27
Outcomes of the anatomical repair in patients with congenitally corrected transposition of the great arteries: lessons learned in a high-volume centre. 38
29566142 2018
28
Inter- and intra-ventricular dyssynchrony in the systemic right ventricle is a surrogate marker of major cardiac events in mildly symptomatic patients. 38
29492650 2018
29
High-Sensitive Cardiac Troponin T and Systemic Right Ventricular Area Predict Outcomes in Adults With Congenitally Corrected Transposition. 38
30170667 2018
30
Live-Born Major Congenital Heart Disease in Denmark: Incidence, Detection Rate, and Termination of Pregnancy Rate From 1996 to 2013. 38
30027209 2018
31
Continuous-Flow Left Ventricular Assist Device Therapy in Adults with Transposition of the Great Vessels. 38
30101823 2018
32
Response to: 'Contemporary management and outcomes in congenitally corrected transposition of the great arteries' by Kutty et al. 38
29945948 2018
33
Contemporary management and outcomes in congenitally corrected transposition of the great arteries. 38
29326110 2018
34
Post-operative Assessment of the Arterial Switch Operation: A Comparison of Magnetic Resonance Imaging and Echocardiography. 38
29564521 2018
35
Congenitally Corrected Transposition of the Great Arteries in a Septuagenarian from the Developing Country of Pakistan. 38
30087813 2018
36
Implantable cardioverter defibrillator therapy in grown-up patients with transposition of the great arteries-role of anti-tachycardia pacing. 38
30034851 2018
37
Late diagnosis of a congenitally corrected transposition of the great arteries discovered at pacemaker implantation in a patient previously diagnosed with dextrocardia and situs solitus. 38
29881577 2018
38
Right ventricular systolic dysfunction at rest is not related to decreased exercise capacity in patients with a systemic right ventricle. 38
29530621 2018
39
Cardiac Ventricular Contractile Responses to Chronically Increased Afterload Secondary to Right Ventricular Outflow Obstruction in Patients With Tetralogy of Fallot. 38
29576233 2018
40
Right ventricular dysfunction in congenitally corrected transposition of the great arteries and risk of ventricular tachyarrhythmia and sudden death. 38
29463466 2018
41
Rhythm disturbances and treatment strategies in children with congenitally corrected transposition of the great arteries. 38
29476598 2018
42
An extremely rare clinical entity: congenitally corrected transposition with situs ─▒nversus and single coronary artery presented with complete atrioventricular block in a young man. 38
29428001 2018
43
Long-Term Outcomes of Tricuspid Valve Surgery in Patients With Congenitally Corrected Transposition of the Great Arteries. 38
29874165 2018
44
Coronary sinus ostial atresia with persistent left superior caval vein in a patient with congenitally corrected transposition of the great arteries. 38
29233231 2018
45
Catheter ablation of manifest posteroseptal accessory pathway associated with coronary sinus diverticula in a child with congenitally corrected transposition of the great arteries. 38
29424737 2018
46
The Bridge Occlusion Balloon as a safety net in a high-risk transvenous lead extraction procedure. 38
29049802 2018
47
Systemic Right Ventricle in Adults With Congenital Heart Disease: Anatomic and Phenotypic Spectrum and Current Approach to Management. 38
29378757 2018
48
Suitability of cardiac resynchronisation therapy in patients with Fontan circulation and congenitally corrected transposition of the great arteries. 38
28886927 2017
49
Cardiac Conduction System in Congenitally Corrected Transposition of the Great Arteries and Its Clinical Relevance. 38
29269355 2017
50
Comparison of systemic right ventricular function in transposition of the great arteries after atrial switch and congenitally corrected transposition of the great arteries. 38
28668979 2017

Variations for Congenitally Corrected Transposition of the Great Arteries

ClinVar genetic disease variations for Congenitally Corrected Transposition of the Great Arteries:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 46;XY;t(2;14)(p22;q24.3)dn Translocation Likely pathogenic

Expression for Congenitally Corrected Transposition of the Great Arteries

Search GEO for disease gene expression data for Congenitally Corrected Transposition of the Great Arteries.

Pathways for Congenitally Corrected Transposition of the Great Arteries

GO Terms for Congenitally Corrected Transposition of the Great Arteries

Sources for Congenitally Corrected Transposition of the Great Arteries

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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