MCID: TRC062
MIFTS: 46

Tricuspid Atresia

Categories: Rare diseases, Cardiovascular diseases, Fetal diseases

Aliases & Classifications for Tricuspid Atresia

MalaCards integrated aliases for Tricuspid Atresia:

Name: Tricuspid Atresia 57 12 76 53 59 37 15
Congenital Agenesis of the Tricuspid Valve 53

Characteristics:

Orphanet epidemiological data:

59
tricuspid atresia
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe),1-9/100000 (Belgium),1-9/100000 (France),1-5/10000 (Germany),1-5/10000 (Ireland),1-9/100000 (Italy),1-9/100000 (Netherlands),1-9/100000 (Norway),1-9/100000 (Poland),1-9/100000 (Spain),1-5/10000 (Portugal),1-5/10000 (Switzerland),1-9/100000 (United Kingdom),1-9/100000 (Ukraine); Age of onset: Antenatal,Neonatal;

Classifications:



External Ids:

OMIM 57 605067
Disease Ontology 12 DOID:0080169
Orphanet 59 ORPHA1209
ICD10 via Orphanet 34 Q22.4
MESH via Orphanet 45 D018785
UMLS via Orphanet 74 C0243002
MedGen 42 C0243002
KEGG 37 H01785

Summaries for Tricuspid Atresia

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1209Disease definitionTricuspid atresia is (TA) a rare congenital heart malformation characterized by the congenital agenesis of tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular). TA is associated with normally related or transposed great vessels (TGV, see this term), an obligatory interatrial connection that is crucial for survival (patent foramen ovale or atrial septal defect, osteum secondum type), ventricular septal defect (in 90% cases), pulmonary outflow obstruction - pulmonary atresia, stenosis or hypoplasia (usually in TA with normally related vessels but also in TGV), aortic coarctation and/or aortic arch interruption (usually in TA with TGV)(see these terms).Visit the Orphanet disease page for more resources.

MalaCards based summary : Tricuspid Atresia, also known as congenital agenesis of the tricuspid valve, is related to transposition of the great arteries and ventricular septal defect. An important gene associated with Tricuspid Atresia is ZFPM2 (Zinc Finger Protein, FOG Family Member 2), and among its related pathways/superpathways are Cardiac Progenitor Differentiation and Heart Development. The drugs Bosentan and Citric Acid have been mentioned in the context of this disorder. Affiliated tissues include heart, endothelial and lung, and related phenotypes are cardiovascular system and cellular

Disease Ontology : 12 A tricuspid valve disease characterized by a missing or abnormally developed tricuspid heart value at birth.

Wikipedia : 76 Tricuspid atresia is a form of congenital heart disease whereby there is a complete absence of the... more...

Description from OMIM: 605067

Related Diseases for Tricuspid Atresia

Diseases related to Tricuspid Atresia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 transposition of the great arteries 29.7 GDF1 NKX2-5 ZFPM2
2 ventricular septal defect 29.1 GDF1 NKX2-5 NKX2-6 ZFPM2
3 hypoplastic left heart syndrome 28.8 NKX2-5 NKX2-6
4 conotruncal heart malformations 28.7 GDF1 NKX2-5 NKX2-6 ZFPM2
5 atrial heart septal defect 28.2 CRELD1 GDF1 NKX2-5 NKX2-6
6 atrioventricular septal defect 27.7 CRELD1 GDF1 NKX2-5 NKX2-6
7 heart disease 27.4 CRELD1 GDF1 NKX2-5 NKX2-6
8 tetralogy of fallot 26.7 CRELD1 GDF1 HEY2 NKX2-5 NKX2-6 ZFPM2
9 double outlet right ventricle 25.8 CRELD1 GDF1 MESP1 NKX2-5 NKX2-6 ZFPM2
10 univentricular heart 10.2
11 aortopulmonary window 10.1
12 aging 10.1
13 aneurysm 10.1
14 dextrocardia 10.1
15 complete atrioventricular canal 10.0
16 dextro-looped transposition of the great arteries 9.9 GDF1 NKX2-6
17 tracheoesophageal fistula with or without esophageal atresia 9.9
18 wolff-parkinson-white syndrome 9.9
19 myocardial infarction 9.9
20 atrioventricular block 9.9
21 esophageal atresia 9.9
22 protein-losing enteropathy 9.9
23 esophagitis 9.9
24 double outlet left ventricle 9.9
25 tracheoesophageal fistula 9.9
26 diaphragmatic eventration 9.9 NKX2-6 ZFPM2
27 atrial standstill 1 9.8
28 coarctation of aorta 9.8
29 cystic fibrosis 9.8
30 heart block, congenital 9.8
31 hypoplastic left heart syndrome 1 9.8
32 pulmonary arteriovenous fistulas 9.8
33 pulmonary atresia with intact ventricular septum 9.8
34 lung agenesis 9.8
35 hemophilia b 9.8
36 transposition of the great arteries, dextro-looped 1 9.8
37 chromosome 16p13.3 deletion syndrome, proximal 9.8
38 congenital methemoglobinemia 9.8
39 pulmonary hypertension 9.8
40 arteriovenous fistula 9.8
41 seckel syndrome 9.8
42 phaeochromocytoma 9.8
43 left ventricular noncompaction 9.8
44 thrombosis 9.8
45 methemoglobinemia 9.8
46 pulmonary valve stenosis 9.8
47 situs inversus 9.8
48 muscular dystrophy 9.8
49 type i 9.8
50 hemophilia 9.8

Graphical network of the top 20 diseases related to Tricuspid Atresia:



Diseases related to Tricuspid Atresia

Symptoms & Phenotypes for Tricuspid Atresia

Clinical features from OMIM:

605067

MGI Mouse Phenotypes related to Tricuspid Atresia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.95 HEY2 MESP1 NKX2-5 CRELD1 NKX2-6 GDF1
2 cellular MP:0005384 9.85 MESP1 NKX2-5 CRELD1 NKX2-6 GDF1 ZFPM2
3 embryo MP:0005380 9.73 HEY2 MESP1 NKX2-5 CRELD1 NKX2-6 GDF1
4 craniofacial MP:0005382 9.72 HEY2 MESP1 NKX2-5 CRELD1 GDF1
5 mortality/aging MP:0010768 9.7 HEY2 MESP1 NKX2-5 CRELD1 NKX2-6 GDF1
6 normal MP:0002873 9.35 MESP1 NKX2-5 NKX2-6 GDF1 ZFPM2
7 respiratory system MP:0005388 9.1 MESP1 NKX2-5 NKX2-6 GDF1 ZFPM2 HEY2

Drugs & Therapeutics for Tricuspid Atresia

Drugs for Tricuspid Atresia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bosentan Approved, Investigational Phase 2 147536-97-8 104865
2
Citric Acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
3 Phosphodiesterase 5 Inhibitors Phase 2
4 Phosphodiesterase Inhibitors Phase 2
5 Sildenafil Citrate Phase 2 171599-83-0
6 Vasodilator Agents Phase 2
7 Antihypertensive Agents Phase 2
8 Endothelin Receptor Antagonists Phase 2
9 Citrate Nutraceutical Phase 2
10
Dexmedetomidine Approved, Vet_approved Phase 1 113775-47-6 68602 5311068
11 Adrenergic Agents Phase 1
12 Adrenergic Agonists Phase 1
13 Adrenergic alpha-2 Receptor Agonists Phase 1
14 Adrenergic alpha-Agonists Phase 1
15 Analgesics Phase 1
16 Analgesics, Non-Narcotic Phase 1
17 Central Nervous System Depressants Phase 1
18 Hypnotics and Sedatives Phase 1
19 Neurotransmitter Agents Phase 1
20 Peripheral Nervous System Agents Phase 1
21
Vitamin C Approved, Nutraceutical Not Applicable 50-81-7 5785 54670067
22 Antioxidants Not Applicable
23 Micronutrients Not Applicable
24 Protective Agents Not Applicable
25 Trace Elements Not Applicable
26 Vitamins Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sildenafil After the Fontan Operation Completed NCT00507819 Phase 2 Sildenafil;Placebo
2 Study of Placebo or Bosentan to Treat Patients With Single Ventricle Physiology. Completed NCT01292551 Phase 2 Bosentan;Placebo
3 Liothyronine in Children With Single Ventricle Congenital Cardiac Malformations Undergoing the Fontan Procedure Completed NCT00004828 Phase 1 liothyronine I 131
4 Understanding Dexmedetomidine In Infants Post-Operative From Cardiac Surgery Completed NCT00573066 Phase 1 Dexmedetomidine
5 Global and Regional Myocardial Strain and Power Output In Patients With Single Ventricles Using Novel MRI Techniques Unknown status NCT01107990
6 Biomarker Study for Heart Failure in Children With Single Ventricle Physiology Completed NCT00571233
7 Impact of Vitamin C on Endothelial Function and Exercise Capacity in Fontan-Palliated Patients Completed NCT00974025 Not Applicable
8 Changes in Cerebral Oxygenation During Laparoscopy in Patients With Single Ventricle Anatomy Enrolling by invitation NCT02614664

Search NIH Clinical Center for Tricuspid Atresia

Genetic Tests for Tricuspid Atresia

Anatomical Context for Tricuspid Atresia

MalaCards organs/tissues related to Tricuspid Atresia:

41
Heart, Endothelial, Lung, Atrioventricular Node, Liver

Publications for Tricuspid Atresia

Articles related to Tricuspid Atresia:

(show top 50) (show all 458)
# Title Authors Year
1
Respiratory exacerbation in a young adult with cystic fibrosis and tricuspid atresia. ( 29619223 )
2018
2
A persistent giant Eustachian valve: functional tricuspid atresia in a newborn. ( 29361049 )
2018
3
Evaluation of the anatomic and hemodynamic abnormalities in tricuspid atresia before and after surgery using computational fluid dynamics. ( 29480841 )
2018
4
Energetic performance analysis of staged palliative surgery in tricuspid atresia using vector flow mapping. ( 29241451 )
2017
5
Anesthetic Management During Atrial Septostomy in a Conjoined Thoraco-Omphalopagus Twin With Tricuspid Atresia and d-Transposition of the Great Arteries Before Separation: A Case Report. ( 29293486 )
2017
6
Improved long-term outcomes in double-inlet left ventricle and tricuspid atresia with transposed great arteries: systemic outflow tract obstruction present at birth defines long-term outcome. ( 28329058 )
2017
7
Aortopathy in an Adult With Tricuspid Atresia and Left Ventricular Non-Compaction After Fontan Procedure. ( 28381694 )
2017
8
Functional near-tricuspid atresia in a patient with absent pulmonary valve and an intact ventricular septum. ( 28300528 )
2017
9
Living with Tricuspid Atresia: Case Report with Review of Literature. ( 28764825 )
2017
10
Typical atrial flutter with muscular type tricuspid atresia. ( 27226496 )
2016
11
Tricuspid atresia associated with aortopulmonary window: diagnostic and therapeutic dilemmas. ( 27680574 )
2016
12
Absent Pulmonary Valve Syndrome With Tricuspid Atresia, Ventricular Septal Defect, and Aneurysmal Dilated Pulmonary Artery: A Case Report of Successful Fontan Completion. ( 27549733 )
2016
13
Parental Refusal of Surgery in an Infant With Tricuspid Atresia. ( 27940784 )
2016
14
Modified Norwood Procedure for Tricuspid Atresia, Transposition of Great Arteries, and Hypoplastic Right Arch With Complete Vascular Ring. ( 27772616 )
2016
15
Thrombolytics for late superior caval vein thrombus in a patient with tricuspid atresia and single-lung Glenn anastomosis. ( 26194906 )
2016
16
AV nodal ablation in tricuspid atresia; anatomical challenges. ( 27788993 )
2016
17
Tricuspid Atresia IIc With a Vascular Ring: Novel Approach forA Fontan Completion. ( 26897207 )
2016
18
Giant left atrial appendage aneurysm in association with tricuspid atresia. ( 26758408 )
2016
19
Tricuspid Atresia with Non-compaction: An Early Experience with Implications for Surgical Palliation. ( 27942762 )
2016
20
Successful staged Fontan completion for a tricuspid atresia patient with left ventricular non-compaction. ( 26689445 )
2016
21
Isolated Left Subclavian Artery, Complete Atrioventricular Block, and Tricuspid Atresia in a Neonate. ( 28100981 )
2016
22
Improved Exercise Performance in Patients With Tricuspid Atresia After the Fontan-BjAPrk Modification With Pulsatile Systolic PulmonaryA Flow. ( 26680312 )
2016
23
Influence of Morphology and Initial Surgical Strategy on Survival of Infants With Tricuspid Atresia. ( 26233275 )
2015
24
Surgical management of competing pulmonary blood flow affects survival before Fontan/Kreutzer completion in patients with tricuspid atresia type I. ( 26145767 )
2015
25
Absent pulmonary valve, tricuspid atresia, and congenital heart block. ( 25548352 )
2015
26
Determination of a new mutation in MT-ND1 gene of a patient with dextrocardia, ventriculoarterial discordance, and tricuspid atresia. ( 25626582 )
2015
27
Tricuspid Atresia 18 Years Post Glenn: Is Fontan Necessary in All Cases? ( 26426189 )
2015
28
Truncus arteriosus, tricuspid atresia and partial anomalous pulmonary venous drainage: a unique form of univentricular heart. ( 25972595 )
2015
29
Tricuspid atresia and pulmonary atresia in a child with Rubinstein-Taybi syndrome. ( 26085772 )
2015
30
Successful hybrid management for a patient with tricuspid atresia and innominate vein obstruction. ( 25231417 )
2014
31
A case of Seckel syndrome with tricuspid atresia. ( 25059015 )
2014
32
Tricuspid atresia with truncus arteriosus: successful surgical treatment. ( 25087803 )
2014
33
Integration of cardiac magnetic resonance imaging in pre-procedural planning and electroanatomical mapping for catheter ablation after a Fontan-Bjork correction of tricuspid atresia. ( 24970724 )
2014
34
Successful palliation of a child with left ventricular noncompaction cardiomyopathy and tricuspid atresia to Fontan procedure. ( 25087802 )
2014
35
Congenital coronary arteriopathy and myocardial infarctions occur with tricuspid atresia. ( 22622686 )
2013
36
Tricuspid Atresia Associated with Truncus Arteriosus versus Aortopulmonary Window: Combining Fetal and Postnatal Echocardiography to Make the Diagnosis. ( 24033694 )
2013
37
Tricuspid atresia with aortopulmonary window: challenges in achieving a balanced circulation. ( 23628655 )
2013
38
Simplified approach for ablation of nodal reentrant tachycardia in a patient with tricuspid atresia and extracardiac fontan palliation. ( 23153687 )
2013
39
Combined heart transplantation and thoracic endovascular aortic repair for heart failure secondary to tricuspid atresia palliated with Potts shunt. ( 23989821 )
2013
40
Tricuspid atresia with progressive ductal restriction in a fetus. ( 22729970 )
2013
41
Simplified approach for ablation of nodal reentrant tachycardia in a patient with tricuspid atresia and extracardiac Fontan palliation. ( 24775626 )
2013
42
Percutaneous transluminal pulmonary valvuloplasty in a child with tricuspid atresia, ventricular septal defect, and severe pulmonary valve stenosis: Usefulness of the Femoral Artery Approach. ( 24030841 )
2013
43
eReply. Re: Balancing the pulmonary circulation in tricuspid atresia with an aortopulmonary window. ( 23868969 )
2013
44
Crisscross heart with tricuspid atresia diagnosed in utero. ( 22958430 )
2013
45
Fetal heterotaxy with tricuspid atresia, pulmonary atresia, and isomerism of the right atrial appendages at 22 weeks. ( 24147244 )
2013
46
eComment. Balancing the pulmonary circulation in tricuspid atresia with an aortopulmonary window. ( 23868968 )
2013
47
Aorto-right ventricular tunnel causing functional tricuspid atresia. ( 22529068 )
2012
48
Ablation of atrioventricular nodal reentrant tachycardia in a patient with tricuspid atresia guided by electroanatomic mapping. ( 21091748 )
2012
49
Three-dimensional mechanical dyssynchrony and myocardial deformation of the left ventricle in patients with tricuspid atresia after Fontan procedure. ( 22297084 )
2012
50
Successful reoperation of the valveless calcified right atrium to right ventricle conduit in an adult patient with tricuspid atresia after Fontan procedure. ( 22223698 )
2012

Variations for Tricuspid Atresia

Expression for Tricuspid Atresia

Search GEO for disease gene expression data for Tricuspid Atresia.

Pathways for Tricuspid Atresia

Pathways related to Tricuspid Atresia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.68 MESP1 NKX2-5
2 10.29 HEY2 NKX2-5

GO Terms for Tricuspid Atresia

Biological processes related to Tricuspid Atresia according to GeneCards Suite gene sharing:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.92 HEY2 MESP1 NKX2-5 NKX2-6
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.91 HEY2 MESP1 NKX2-5 ZFPM2
3 negative regulation of transcription, DNA-templated GO:0045892 9.83 HEY2 MESP1 NKX2-5 ZFPM2
4 BMP signaling pathway GO:0030509 9.62 GDF1 NKX2-5
5 heart development GO:0007507 9.62 HEY2 NKX2-5 NKX2-6 ZFPM2
6 heart looping GO:0001947 9.61 MESP1 NKX2-5
7 outflow tract morphogenesis GO:0003151 9.6 HEY2 NKX2-5
8 heart morphogenesis GO:0003007 9.59 MESP1 NKX2-5
9 positive regulation of cardiac muscle cell proliferation GO:0060045 9.58 HEY2 ZFPM2
10 negative regulation of cardiac muscle cell apoptotic process GO:0010667 9.58 HEY2 NKX2-5
11 cardiac muscle cell differentiation GO:0055007 9.57 MESP1 NKX2-5
12 outflow tract septum morphogenesis GO:0003148 9.56 NKX2-5 ZFPM2
13 cardiac muscle tissue development GO:0048738 9.55 NKX2-5 ZFPM2
14 embryonic heart tube development GO:0035050 9.54 NKX2-5 NKX2-6
15 vasculogenesis GO:0001570 9.54 HEY2 NKX2-5 ZFPM2
16 pharyngeal system development GO:0060037 9.51 NKX2-5 NKX2-6
17 ventricular trabecula myocardium morphogenesis GO:0003222 9.49 HEY2 NKX2-5
18 heart trabecula formation GO:0060347 9.48 HEY2 NKX2-5
19 atrial septum morphogenesis GO:0060413 9.46 HEY2 NKX2-5
20 cardiac ventricle morphogenesis GO:0003208 9.43 HEY2 NKX2-5
21 cardiac ventricle formation GO:0003211 9.4 MESP1 NKX2-5
22 atrial cardiac muscle cell development GO:0055014 9.26 NKX2-5 NKX2-6
23 right ventricular cardiac muscle tissue morphogenesis GO:0003221 9.16 NKX2-5 ZFPM2
24 ventricular septum morphogenesis GO:0060412 9.13 HEY2 NKX2-5 ZFPM2
25 ventricular cardiac muscle cell development GO:0055015 8.8 HEY2 NKX2-5 NKX2-6

Molecular functions related to Tricuspid Atresia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding transcription factor activity GO:0003700 9.56 HEY2 MESP1 NKX2-5 NKX2-6
2 DNA binding GO:0003677 9.55 HEY2 MESP1 NKX2-5 NKX2-6 ZFPM2
3 transcription factor binding GO:0008134 9.13 HEY2 NKX2-5 ZFPM2
4 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.02 HEY2 MESP1 NKX2-5 NKX2-6 ZFPM2

Sources for Tricuspid Atresia

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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