MCID: CNG134
MIFTS: 39

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 52 58 36
Congenitally Corrected Transposition of the Great Vessels 52 58
Discordant Ventriculoarterial and Atrioventricular Connections 58
Transposition of the Great Arteries, Congenitally Corrected 52
Transposition of the Great Vessels, Congenitally Corrected 52
Ventriculoarterial and Atrioventricular Discordance 58
Levo-Transposition of the Great Arteries 58
L-Transposition of the Great Arteries 58
Ventricular Inversion 58
Double Discordance 58

Characteristics:

Orphanet epidemiological data:

58
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:

Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


Summaries for Congenitally Corrected Transposition of the Great Arteries

KEGG : 36 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 mitral valve insufficiency and congestive heart failure. An important gene associated with Congenitally Corrected Transposition of the Great Arteries is NPPB (Natriuretic Peptide B), and among its related pathways/superpathways is cGMP-PKG signaling pathway. The drugs Tadalafil and Vasodilator Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and kidney, and related phenotypes are abnormal left ventricular outflow tract morphology and discordant atrioventricular connection

NIH Rare Diseases : 52 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 : 74 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 105)
# Related Disease Score Top Affiliating Genes
1 mitral valve insufficiency 30.4 TNNT2 NPPB
2 congestive heart failure 30.4 TNNT2 NPPB
3 atrial heart septal defect 30.3 TNNT2 NPPB
4 left bundle branch hemiblock 30.0 TNNT2 NPPB
5 cardiac arrest 29.9 TNNT2 NPPB
6 patent foramen ovale 29.8 TNNT2 NPPB
7 pericarditis 29.8 TNNT2 NPPB
8 wolff-parkinson-white syndrome 29.7 TNNT2 NPPB
9 heart valve disease 29.7 TNNT2 NPPB
10 pulmonary edema 29.7 TNNT2 NPPB
11 aortic valve disease 2 29.7 TNNT2 NPPB
12 acute myocardial infarction 29.6 TNNT2 NPPB
13 coronary artery anomaly 29.5 TNNT2 NPPB
14 tetralogy of fallot 29.2 TNNT2 NPPB
15 double discordia 11.3
16 dextro-looped transposition of the great arteries 11.3
17 heart septal defect 11.0
18 ventricular septal defect 11.0
19 tricuspid valve insufficiency 10.9
20 atrioventricular block 10.7
21 situs inversus 10.7
22 dextrocardia 10.7
23 dextrocardia with situs inversus 10.6
24 single ventricular heart 10.5
25 pulmonic stenosis 10.5
26 cyanosis, transient neonatal 10.5
27 aortic valve insufficiency 10.4
28 pulmonary valve stenosis 10.4
29 mesocardia 10.4
30 coarctation of aorta 10.3
31 sinoatrial node disease 10.3
32 sick sinus syndrome 10.3
33 double outlet right ventricle 10.3
34 subpulmonary stenosis 10.3
35 endocarditis 10.3
36 aortic valve disease 1 10.2
37 progressive familial heart block, type ia 10.2
38 pulmonary hypertension, primary, 1 10.2
39 heart block, congenital 10.2
40 patent ductus arteriosus 1 10.2
41 pulmonary hypertension 10.2
42 tricuspid valve disease 10.2
43 heart disease 10.2
44 ischemia 10.2
45 cor triatriatum 10.2
46 aneurysm 10.2
47 syncope 10.2
48 unclassified cardiomyopathy 10.2
49 hydrops, lactic acidosis, and sideroblastic anemia 10.2
50 respiratory failure 10.2

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

Human phenotypes related to Congenitally Corrected Transposition of the Great Arteries:

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal left ventricular outflow tract morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0011103
2 discordant atrioventricular connection 58 31 hallmark (90%) Very frequent (99-80%) HP:0011553
3 heart murmur 58 31 frequent (33%) Frequent (79-30%) HP:0030148
4 atrial septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001631
5 pulmonic stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0001642
6 bradycardia 58 31 frequent (33%) Frequent (79-30%) HP:0001662
7 atrial situs ambiguous 58 31 frequent (33%) Frequent (79-30%) HP:0011539
8 ambiguous atrioventricular connection 58 31 frequent (33%) Frequent (79-30%) HP:0011552
9 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
10 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
11 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
12 wolff-parkinson-white syndrome 58 31 occasional (7.5%) Occasional (29-5%) HP:0001716
13 third degree atrioventricular block 58 31 occasional (7.5%) Occasional (29-5%) HP:0001709
14 easy fatigability 58 31 occasional (7.5%) Occasional (29-5%) HP:0003388
15 first degree atrioventricular block 58 31 occasional (7.5%) Occasional (29-5%) HP:0011705
16 situs inversus totalis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001696
17 ebstein anomaly of the tricuspid valve 58 31 occasional (7.5%) Occasional (29-5%) HP:0010316
18 cyanosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000961
19 tricuspid regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0005180
20 aortic regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001659
21 pulmonary artery atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004935
22 sick sinus syndrome 58 31 occasional (7.5%) Occasional (29-5%) HP:0011704
23 food intolerance 58 31 occasional (7.5%) Occasional (29-5%) HP:0012537
24 double outlet left ventricle 58 31 occasional (7.5%) Occasional (29-5%) HP:0011581
25 single ventricle 58 31 occasional (7.5%) Occasional (29-5%) HP:0001750
26 global systolic dysfunction 58 31 occasional (7.5%) Occasional (29-5%) HP:0005185
27 premature atrial contractions 58 31 occasional (7.5%) Occasional (29-5%) HP:0006699
28 atrial situs inversus 58 31 occasional (7.5%) Occasional (29-5%) HP:0011538
29 double aortic arch 58 31 occasional (7.5%) Occasional (29-5%) HP:0011590
30 gerbode ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0011621
31 right ventricular cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0011663
32 bilateral superior vena cava with bridging vein 58 31 occasional (7.5%) Occasional (29-5%) HP:0011667
33 perimembranous ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0011682
34 supraventricular tachycardia with an accessory connection mediated pathway 58 31 occasional (7.5%) Occasional (29-5%) HP:0011688
35 mobitz i atrioventricular block 58 31 occasional (7.5%) Occasional (29-5%) HP:0011707
36 abnormal aortic valve cusp morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0031567
37 ventricular tachycardia 58 31 very rare (1%) Very rare (<4-1%) HP:0004756
38 atrial flutter 58 31 very rare (1%) Very rare (<4-1%) HP:0004749
39 mesocardia 58 31 very rare (1%) Very rare (<4-1%) HP:0011599
40 ventricular septal defect 58 Very frequent (99-80%)
41 arrhythmia 58 Occasional (29-5%)
42 heart block 58 Occasional (29-5%)
43 abnormal heart morphology 58 Very frequent (99-80%)
44 abnormal tricuspid valve morphology 58 Very frequent (99-80%)
45 dextrocardia 58 Occasional (29-5%)
46 abnormal atrioventricular conduction 58 Frequent (79-30%)
47 supraventricular tachycardia 58 Occasional (29-5%)
48 cardiac conduction abnormality 58 Frequent (79-30%)
49 abnormal atrioventricular valve morphology 58 Very frequent (99-80%)

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 Vasodilator Agents Phase 3
3 Phosphodiesterase 5 Inhibitors Phase 3
4 Phosphodiesterase Inhibitors 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:

40
Heart, Lung, Kidney, Pituitary, Atrioventricular Node, Brain, Testes

Publications for Congenitally Corrected Transposition of the Great Arteries

Articles related to Congenitally Corrected Transposition of the Great Arteries:

(show top 50) (show all 526)
# Title Authors PMID Year
1
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease. 61
32037394 2020
2
Congenitally corrected transposition of the great arteries: is it really a transposition? An anatomical study of the right ventricular septal surface. 61
31657020 2020
3
A unique indication for the senning procedure: Atrioventricular discordance with ventriculoarterial concordance. 61
31793037 2020
4
Global longitudinal strain correlates to systemic right ventricular function. 61
31987049 2020
5
Ventricular assist device implantation in patients with a failing systemic right ventricle: a call to expand current practice. 61
31420818 2019
6
Systematic Evaluation of Systemic Right Ventricular Function. 61
31906129 2019
7
Mechanisms for heart failure in systemic right ventricle. 61
31853794 2019
8
Prenatal diagnosis of congenitally corrected transposition of the great arteries. 61
32021715 2019
9
EDUCATIONAL SERIES IN CONGENITAL HEART DISEASE: Echocardiographic assessment of transposition of the great arteries and congenitally corrected transposition of the great arteries 61
31729212 2019
10
A case of 15-year misdiagnosed heart failure: congenitally corrected transposition of the great arteries. 61
31660510 2019
11
A de novo splicing variant supports the candidacy of TLL1 in ASD pathogenesis. 61
31570783 2019
12
Exploring the Prognostic Value of Novel Markers in Adults With a Systemic Right Ventricle. 61
31431113 2019
13
Postoperative and short-term atrial tachyarrhythmia burdens after transcatheter vs surgical pulmonary valve replacement among congenital heart disease patients. 61
31282099 2019
14
Acute Appendicitis in a Patient with Situs Inversus Totalis, Intestinal Malrotation, and Congenitally Corrected Transposition of the Great Arteries. 61
31560326 2019
15
Successful staged tricuspid valve replacement following cardiac resynchronization therapy in a congenitally corrected transposition of the great arteries. 61
31428373 2019
16
Congenitally corrected transposition of the great arteries in a 69-year-old woman. 61
31302072 2019
17
Hemodynamically balanced congenitally corrected transposition of the great arteries with a large ventricular septal defect, and subvalvular pulmonic stenosis: a case report. 61
31319891 2019
18
The impact of pulmonary artery banding and cardiac resynchronization therapy for the adult patient with congenitally corrected transposition of the great arteries. 61
31286415 2019
19
Ventricular assist device in a patient with congenitally corrected transposition of the great arteries and situs inversus totalis. 61
30630389 2019
20
3D Printing to Model Surgical Repair of Complex Congenitally Corrected Transposition of the Great Arteries. 61
28825385 2019
21
Congenitally corrected transposition of the great vessels: evaluation with cardiac magnetic resonance imaging after double-switch repair. 61
30527267 2019
22
Fate of the Left Ventricular Outflow Tract After Rastelli With Selective Infundibular Muscle Resection. 61
30529669 2019
23
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. 61
30586770 2019
24
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. 61
30121238 2019
25
Pulmonary Artery Banding for Congenitally Corrected Transposition of the Great Arteries With Hydrops Fetalis: A Case Report. 61
31018764 2019
26
[Congenitally Corrected Transposition of the Great Arteries( TGA) in Adult]. 61
31266912 2019
27
Successful Left Ventricular Lead Placement in Congenitally Corrected Transposition of the Great Arteries and Situs Inversus. 61
30898247 2019
28
[Valve Replacement for Tricuspid Regurgitation with Congenitally Corrected Transposition of the Great Arteries]. 61
30923295 2019
29
Clinical Evaluation of Exercise Capacity in Adults with Systemic Right Ventricle. 61
30833832 2019
30
Congenitally Corrected Transposition of the Great Arteries: Anatomic, Physiologic Repair, and Palliation. 61
31027562 2019
31
Bridge to Transplantation With Long-Term Mechanical Assist Devices in Adults With Transposition of the Great Arteries. 61
30129258 2019
32
Mechanical Support for Patients With Congenitally Corrected Transposition of the Great Arteries and End-Stage Ventricular Dysfunction. 61
31027567 2019
33
Implantation techniques and outcomes after cardiac resynchronization therapy for congenitally corrected transposition of the great arteries. 61
30125719 2018
34
Cardiac resynchronization therapy in congenital heart disease: Results from the German National Register for Congenital Heart Defects. 61
30297188 2018
35
Ventricular arrhythmia burden after transcatheter versus surgical pulmonary valve replacement. 61
29636402 2018
36
A Rare Combination of Congenitally Corrected Transposition of the Great Arteries with Pulmonary Artery Aneurysm. 61
30370391 2018
37
Cryoablation for Perinodal Arrhythmia Substrates in Patients With Congenital Heart Disease and Displaced Atrioventricular Conduction Systems. 61
30336879 2018
38
High-Sensitive Cardiac Troponin T and Systemic Right Ventricular Area Predict Outcomes in Adults With Congenitally Corrected Transposition. 61
30170667 2018
39
Inter- and intra-ventricular dyssynchrony in the systemic right ventricle is a surrogate marker of major cardiac events in mildly symptomatic patients. 61
29492650 2018
40
Outcomes of the anatomical repair in patients with congenitally corrected transposition of the great arteries: lessons learned in a high-volume centre. 61
29566142 2018
41
Live-Born Major Congenital Heart Disease in Denmark: Incidence, Detection Rate, and Termination of Pregnancy Rate From 1996 to 2013. 61
30027209 2018
42
Continuous-Flow Left Ventricular Assist Device Therapy in Adults with Transposition of the Great Vessels. 61
30101823 2018
43
Contemporary management and outcomes in congenitally corrected transposition of the great arteries. 61
29326110 2018
44
Response to: 'Contemporary management and outcomes in congenitally corrected transposition of the great arteries' by Kutty et al. 61
29945948 2018
45
Implantable cardioverter defibrillator therapy in grown-up patients with transposition of the great arteries-role of anti-tachycardia pacing. 61
30034851 2018
46
Congenitally Corrected Transposition of the Great Arteries in a Septuagenarian from the Developing Country of Pakistan. 61
30087813 2018
47
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. 61
29881577 2018
48
Post-operative Assessment of the Arterial Switch Operation: A Comparison of Magnetic Resonance Imaging and Echocardiography. 61
29564521 2018
49
Right ventricular systolic dysfunction at rest is not related to decreased exercise capacity in patients with a systemic right ventricle. 61
29530621 2018
50
Cardiac Ventricular Contractile Responses to Chronically Increased Afterload Secondary to Right Ventricular Outflow Obstruction in Patients With Tetralogy of Fallot. 61
29576233 2018

Variations for Congenitally Corrected Transposition of the Great Arteries

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

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 46;XY;t(2;14)(p22;q24.3)dnTranslocation Likely pathogenic 268037

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

Pathways related to Congenitally Corrected Transposition of the Great Arteries according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.12 TNNT2 NPPB

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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