MCID: PLM041
MIFTS: 45

Pulmonary Valve Stenosis

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Pulmonary Valve Stenosis

MalaCards integrated aliases for Pulmonary Valve Stenosis:

Name: Pulmonary Valve Stenosis 12 76 53 29 55 6 44 15 73
Valvular Pulmonary Stenosis 53 59
Heart Valve Pulmonary Stenosis 53
Valvate Pulmonary Stenosis 53
Valvar Pulmonary Stenosis 53
Pulmonary Stenosis 73

Classifications:



External Ids:

Disease Ontology 12 DOID:6420
MeSH 44 D011666
SNOMED-CT 68 56786000
Orphanet 59 ORPHA99054
MESH via Orphanet 45 D011666
ICD10 via Orphanet 34 Q22.1
UMLS via Orphanet 74 C0034089
ICD10 33 I37.0 I37.2

Summaries for Pulmonary Valve Stenosis

MalaCards based summary : Pulmonary Valve Stenosis, also known as valvular pulmonary stenosis, is related to pulmonic stenosis and atrial heart septal defect. An important gene associated with Pulmonary Valve Stenosis is PTPN11 (Protein Tyrosine Phosphatase, Non-Receptor Type 11), and among its related pathways/superpathways are IL2 signaling events mediated by PI3K and Neurotrophic factor-mediated Trk receptor signaling. The drugs Minoxidil and Vasodilator Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and bone, and related phenotypes are cardiovascular system and embryo

Wikipedia : 76 Pulmonary valve stenosis (PVS) is a heart valve disorder in which outflow of blood from the right... more...

Related Diseases for Pulmonary Valve Stenosis

Diseases related to Pulmonary Valve Stenosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 pulmonic stenosis 32.5 GATA4 JAG1 PTPN11 SOS1
2 atrial heart septal defect 30.2 CRELD1 GATA4 NKX2-6
3 ventricular septal defect 30.0 GATA4 JAG1 NKX2-6
4 tricuspid valve insufficiency 29.8 CRELD1 PTPN11
5 hypertrophic cardiomyopathy 29.8 PTPN11 SCN5A SOS1
6 double outlet right ventricle 29.8 CRELD1 GATA4 NKX2-6
7 tricuspid atresia 29.6 CRELD1 NKX2-6
8 patent foramen ovale 29.4 GATA4 NKX2-6 PTPN11
9 tetralogy of fallot 29.4 CRELD1 GATA4 JAG1 NKX2-6 PTPN11
10 patent ductus arteriosus 1 29.4 CRELD1 GATA4 NKX2-6 PTPN11
11 heart disease 28.4 CRELD1 GATA4 JAG1 NKX2-6 PTPN11 SCN5A
12 noonan syndrome 1 11.2
13 nasodigitoacoustic syndrome 11.2
14 kleefstra syndrome 11.2
15 familial isolated dilated cardiomyopathy 10.1 RBM20 SCN5A
16 complete atrioventricular canal-tetralogy of fallot syndrome 10.1 CRELD1 GATA4
17 complete atrioventricular canal-left heart obstruction syndrome 10.1 CRELD1 GATA4
18 partial atrioventricular canal 10.1 CRELD1 GATA4
19 intrinsic cardiomyopathy 10.1 RBM20 SCN5A
20 complete atrioventricular canal-ventricle hypoplasia syndrome 10.1 CRELD1 GATA4
21 atrioventricular block 10.1 GATA4 SCN5A
22 endocarditis 10.1
23 aortic coarctation 10.1
24 cor triatriatum 10.1
25 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.0 JAG1 PTPN11
26 cardiomyopathy, dilated, 1e 10.0 RBM20 SCN5A
27 villonodular synovitis 10.0 PTPN11 SOS1
28 hypoplastic left heart syndrome 1 10.0
29 aortic valve disease 2 10.0
30 congestive heart failure 10.0
31 hypoplastic left heart syndrome 10.0
32 costello syndrome 10.0 PTPN11 SOS1
33 cardiofaciocutaneous syndrome 1 10.0 PTPN11 SOS1
34 ebstein anomaly 9.9 GATA4 NKX2-6
35 arteries, anomalies of 9.9
36 coronary artery anomaly 9.9
37 pulmonary valve insufficiency 9.9
38 cor triatriatum dexter 9.9
39 right aortic arch 9.9
40 total anomalous pulmonary venous return 1 9.9 CRELD1 NKX2-6
41 tricuspid valve disease 9.9 CRELD1 NKX2-6
42 noonan syndrome 3 9.9 PTPN11 SOS1
43 prune belly syndrome 9.8
44 pulmonary hypertension, primary, 1 9.8
45 williams-beuren syndrome 9.8
46 ataxia-telangiectasia 9.8
47 pulmonary atresia with intact ventricular septum 9.8
48 hemophilia a 9.8
49 infective endocarditis 9.8
50 sarcoma 9.8

Graphical network of the top 20 diseases related to Pulmonary Valve Stenosis:



Diseases related to Pulmonary Valve Stenosis

Symptoms & Phenotypes for Pulmonary Valve Stenosis

MGI Mouse Phenotypes related to Pulmonary Valve Stenosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.01 CRELD1 GATA4 JAG1 NKX2-6 PTPN11 RBM20
2 embryo MP:0005380 9.87 CRELD1 GATA4 JAG1 NKX2-6 PTPN11 SCN5A
3 cellular MP:0005384 9.85 CRELD1 GATA4 JAG1 NKX2-6 PTPN11 SOS1
4 mortality/aging MP:0010768 9.8 CRELD1 GATA4 JAG1 NKX2-6 PTPN11 SCN5A
5 muscle MP:0005369 9.63 GATA4 JAG1 PTPN11 RBM20 SCN5A SOS1
6 nervous system MP:0003631 9.43 CRELD1 GATA4 JAG1 PTPN11 SCN5A SOS1
7 normal MP:0002873 9.02 GATA4 JAG1 NKX2-6 PTPN11 SCN5A

Drugs & Therapeutics for Pulmonary Valve Stenosis

Drugs for Pulmonary Valve Stenosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Minoxidil Approved, Investigational Phase 2 38304-91-5 4201
2 Vasodilator Agents Phase 2
3 Antihypertensive Agents Phase 2
4
Citric Acid Approved, Nutraceutical, Vet_approved 77-92-9 311
5 Anticoagulants
6 Hormones
7 Chelating Agents
8 Citrate
9 Bone Density Conservation Agents
10 Calcium, Dietary

Interventional clinical trials:

(show all 27)
# Name Status NCT ID Phase Drugs
1 Efficacy of Minoxidil in Children With Williams-Beuren Syndrome Completed NCT00876200 Phase 2 Minoxidil;Placebo
2 Systemic Rapamycin (Sirolimus) to Prevent In-Stent Restenosis Following Pulmonary Artery Stent Placement Withdrawn NCT02365415 Phase 2 Sirolimus
3 Right and Left Ventricle Remodeling Predictors After Pulmonary Valve Replacement in Patients With Repaired Tetralogy of Fallot Unknown status NCT02186691 Not Applicable
4 Behaviour of Tricuspid Valve Regurgitation in Volume and/or Pressure Loaded Right Heart Unknown status NCT01444222
5 Hormonal Sensitivity in Patients With Noonan and LEOPARD Syndromes Unknown status NCT02486731
6 Pulmonary Arteriopathy-Diagnostics and Therapy Completed NCT00266175
7 Follow Up on Freestyle Valves in Children Completed NCT00385112
8 Pulmonic Valve REplacement Multi-discIpline EMEA Registry Completed NCT01356108
9 Pulmonary Artery Repair With Covered Stents Completed NCT01824160 Not Applicable
10 Retrospective Pulmonary Valve Replacement Imaging Completed NCT00446108
11 CryoValve SG Pulmonary Human Heart Valve Post Clearance Study Completed NCT01092442
12 Study of the Relationship Between Calcium Levels and Intact Parathyroid Hormone (iPTH) in Adults With Repaired or Palliated Conotruncal Cardiac Defects Completed NCT00004361 calcium gluconate;sodium citrate
13 Early Re-intervention in Infants and Small Children After Correction of Tetralogy of Fallot Completed NCT00536432
14 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
15 Pulsta® Transcatheter Pulmonary Valve Korean Multicenter Study Recruiting NCT03110861 Not Applicable
16 COMPASSION XT PAS - Post-approval Study of the SAPIEN XT THV in Patients With Pulmonary Valve Dysfunction Recruiting NCT02987387 Not Applicable
17 Williams Syndrome (WS) and Supravalvular Aortic Stenosis (SVAS) DNA and Tissue Bank Recruiting NCT02706639
18 Multicenter Trial of Congenital Pulmonic Valve Dysfunction Studying the SAPIEN 3 THV With the Alterra Adaptive Prestent Recruiting NCT03130777 Not Applicable
19 Xeltis Bioabsorbable Pulmonary Valved Conduit Early Feasibility Study Recruiting NCT03022708 Not Applicable
20 Tetralogy of Fallot for Life Recruiting NCT02968264
21 COMPASSION - COngenital Multicenter Trial of Pulmonic VAlve Regurgitation Studying the SAPIEN InterventIONal THV Active, not recruiting NCT00676689 Not Applicable
22 A Feasibility Study to Evaluate the Safety and Short-term Effectiveness of Transcatheter Pulmonary Valve (TPV) Active, not recruiting NCT02555319 Not Applicable
23 Study to Assess Safety of the Pulmonary Valved Conduit (PV-001) in Subjects Undergoing Right Ventricular Outflow Tract Reconstruction Active, not recruiting NCT02700100 Not Applicable
24 COMPASSION S3 - Evaluation of the SAPIEN 3 Transcatheter Heart Valve in Patients With Pulmonary Valve Dysfunction Active, not recruiting NCT02744677 Not Applicable
25 Implantation of the Venus P-Valveā„¢ in the Pulmonic Position in Patients With Native Outflow Tracts Not yet recruiting NCT02846753 Not Applicable
26 Mild Valvar Pulmonary Stenosis Terminated NCT00277927
27 Adult Pulmonary Valve Replacement: A Simple and Reproducible Technique Terminated NCT00384163

Search NIH Clinical Center for Pulmonary Valve Stenosis

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: pulmonary valve stenosis

Genetic Tests for Pulmonary Valve Stenosis

Genetic tests related to Pulmonary Valve Stenosis:

# Genetic test Affiliating Genes
1 Pulmonary Valve Stenosis (rare) 29

Anatomical Context for Pulmonary Valve Stenosis

MalaCards organs/tissues related to Pulmonary Valve Stenosis:

41
Heart, Lung, Bone

Publications for Pulmonary Valve Stenosis

Articles related to Pulmonary Valve Stenosis:

(show top 50) (show all 224)
# Title Authors Year
1
New Pulmonary Valvuloplasty Technique by Use of an Hourglass-Shaped Balloon in 3 Adults with Severe Pulmonary Valve Stenosis. ( 29844739 )
2018
2
Fetal Pulmonary Valve Stenosis or Atresia with Intact Ventricular Septum: Predictors of Need for Neonatal Intervention. ( 29417607 )
2018
3
High-pressure balloon valvuloplasty for severe pulmonary valve stenosis: a prospective observational pilot study in 25 dogs. ( 29459123 )
2018
4
Congenital inferior sinus venosus defect associated with pulmonary valve stenosis: A late presentation of a rare disease. ( 29975433 )
2018
5
Electrocardiography-gated cardiac CT angiography can differentiate brachycephalic dogs with and without pulmonary valve stenosis and findings differ from transthoracic echocardiography. ( 30475441 )
2018
6
Echocardiographic evaluation of velocity ratio, velocity time integral ratio, and pulmonary valve area in dogs with pulmonary valve stenosis. ( 30079482 )
2018
7
Impact of Pulmonary Valve Regurgitation on Pressure Difference of Pulmonary Valve Stenosis in Patients with Tetralogy of Fallot After Repair. ( 30105464 )
2018
8
Non-electrocardiographic-gated computed tomographic angiography can be used to diagnose coronary artery anomalies in Bulldogs with pulmonary valve stenosis. ( 30318654 )
2018
9
Pulmonary valve stenosis in the adult patient: pathophysiology, diagnosis and management. ( 30337335 )
2018
10
Case 5/2018 - Severe Pulmonary Valve Stenosis (PVS), Relieved by a Double-balloon Catheter, in a 68-year-old Woman. ( 30379261 )
2018
11
Pulmonary valve cusp augmentation for pulmonary regurgitation after percutaneous balloon pulmonary valvuloplasty of valvular pulmonary stenosis. ( 29307316 )
2018
12
Successful simultaneous transcatheter treatment for a secundum atrial septal defect complicated by valvular pulmonary stenosis in an infant. ( 29991370 )
2018
13
The Norwood Procedure with Valvular Pulmonary Stenosis. ( 29890149 )
2018
14
Percutaneous balloon pulmonary valvuloplasty (PBPV) of extreme pulmonary valve stenosis by the use of Accura balloon. ( 28978603 )
2017
15
Immediate Therapeutic Outcomes and Medium-term Follow-up of Percutaneous Balloon Pulmonary Valvuloplasty in Infants with Pulmonary Valve Stenosis: A Single-center Retrospective Study. ( 29176137 )
2017
16
Long-term results of percutaneous balloon valvuloplasty in neonatal critical pulmonary valve stenosis: a 20-year, single-centre experience. ( 28619122 )
2017
17
Results of pulmonary balloon valvuloplasty persist and improve at late follow-up in isolated pulmonary valve stenosis. ( 28651667 )
2017
18
Biventricular impact of mild to moderate pulmonary valve stenosis in fetal life. ( 28295792 )
2017
19
Anatomic, histopathologic, and echocardiographic features in a dog with an atypical pulmonary valve stenosis with a fibrous band of tissue and a patent ductus arteriosus. ( 28697788 )
2017
20
Unilateral absence of an external jugular vein in two English bulldogs with pulmonary valve stenosis. ( 28274588 )
2017
21
Dysplastic pulmonary valve stenosis associated with unilateral absent first metacarpal: A rare association. ( 28894588 )
2017
22
Regional right ventricular remodeling and function in children with idiopathic pulmonary arterial hypertension vs those with pulmonary valve stenosis: Insights into mechanics of right ventricular dysfunction. ( 28370259 )
2017
23
Percutaneous balloon valvuloplasty with Inoue balloon catheter technique for pulmonary valve stenosis in adolescents and adults. ( 28460765 )
2017
24
Long-Term Outcomes of Balloon Valvuloplasty for Isolated Pulmonary Valve Stenosis. ( 27826708 )
2016
25
Percutaneous balloon valvuloplasty in carcinoid pulmonary valve stenosis. ( 27976548 )
2016
26
Case 4/2016: 32-Year-Old Female, with Critical Pulmonary Valve Stenosis. Operated at 4 Months of Age, in Normal Healing Evolution. ( 27409129 )
2016
27
EP08.08: Critical pulmonary valve stenosis in dichorionic and diamniotic twins: prenatal diagnosis, pregnancy outcomes and postnatal development. ( 27646419 )
2016
28
Dual-Source Computed Tomography Evaluation of Children with Congenital Pulmonary Valve Stenosis. ( 27703660 )
2016
29
Use of Dobutamine Stress Echocardiography for Periprocedural Evaluation of a Case of Critical Valvular Pulmonary Stenosis with Delayed Presentation. ( 28465962 )
2016
30
Percutaneous Pulmonary Balloon Valvuloplasty Provides Good Long-Term Outcomes in Adults With Pulmonary Valve Stenosis. ( 26301562 )
2015
31
Restrictive right ventricular performance assessed by cardiac magnetic resonance after balloon valvuloplasty of critical pulmonary valve stenosis. ( 26095337 )
2015
32
Prosthetic Pulmonary Valve Stenosis: A Different Way to Solve the Problem. ( 26354643 )
2015
33
Henoch-SchAPnlein purpura secondary to infective endocarditis in a patient with pulmonary valve stenosis and a ventricular septal defect. ( 25995673 )
2015
34
Interventional Treatment of Pulmonary Valve Stenosis: A Single Center Experience. ( 27275259 )
2015
35
Balloon valvuloplasty in dysplastic pulmonary valve stenosis: immediate and intermediate outcomes. ( 25604363 )
2015
36
Right juxtaposition and a tunnel between the atrial appendages in a patient with atrial septal defect and pulmonary valve stenosis. ( 25548354 )
2015
37
Comparison of medium-term results of transcatheter correction versus surgical treatment for secundum type atrial septal defect combined with pulmonary valve stenosis. ( 24898601 )
2014
38
Staged pulmonary valve balloon dilatation in patients with severe pulmonary valve stenosis and heart failure. ( 24677571 )
2014
39
Functional and haemodynamic assessment of mild-to-moderate pulmonary valve stenosis at rest and during exercise. ( 24780907 )
2014
40
A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis. ( 24498650 )
2014
41
Immediate- and medium-term effects of simultaneous percutaneous corrections of secundum type atrial septal defect combined with pulmonary valve stenosis in local anesthesia and without transesophageal echocardiography guidance. ( 24842233 )
2014
42
Stenting of the right ventricular outflow tract in 2 dogs for palliation of dysplastic pulmonary valve stenosis and right-to-left intracardiac shunting defects. ( 25087648 )
2014
43
Long-term results of percutaneous balloon valvuloplasty in pulmonary valve stenosis in the pediatric population. ( 24774730 )
2014
44
Alpha blocker and angiotensin-converting enzyme inhibitor in the management of severe pulmonary valve stenosis: from bench to bedside. ( 25543957 )
2014
45
Rebuttal: Percutaneous balloon dilation of severe pulmonary valve stenosis in patients with cyanosis and congestive heart failure. ( 24554586 )
2014
46
Utility of live/real time three-dimensional transesophageal echocardiography in the assessment and percutaneous intervention of bioprosthetic pulmonary valve stenosis. ( 24646027 )
2014
47
Asymptomatic adults with mild/moderate isolated native pulmonary valve stenosis are in need of treatmentā€¦ but not the kind you are thinking of! ( 24968883 )
2014
48
Long-term Results of Balloon Pulmonary Valvuloplasty in Children with Congenital Pulmonary Valve Stenosis. ( 23550107 )
2013
49
Transjugular Balloon Pulmonary Valvuloplasty Through a Bidirectional Glenn Shunt for Dysplastic Pulmonary Valve Stenosis in an 8.7-Year-Old Boy with Inaccessible Femoral Veins. ( 24103403 )
2013
50
Single left coronary ostium and an anomalous prepulmonic right coronary artery in 2 dogs with congenital pulmonary valve stenosis. ( 23660401 )
2013

Variations for Pulmonary Valve Stenosis

ClinVar genetic disease variations for Pulmonary Valve Stenosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN5A NM_000335.4(SCN5A): c.5848G> T (p.Val1950Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs41315493 GRCh37 Chromosome 3, 38592012: 38592012
2 SCN5A NM_000335.4(SCN5A): c.5848G> T (p.Val1950Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs41315493 GRCh38 Chromosome 3, 38550521: 38550521
3 RBM20 NM_001134363.2(RBM20): c.1019C> T (p.Pro340Leu) single nucleotide variant Uncertain significance rs730880181 GRCh37 Chromosome 10, 112541386: 112541386
4 RBM20 NM_001134363.2(RBM20): c.1019C> T (p.Pro340Leu) single nucleotide variant Uncertain significance rs730880181 GRCh38 Chromosome 10, 110781628: 110781628

Expression for Pulmonary Valve Stenosis

Search GEO for disease gene expression data for Pulmonary Valve Stenosis.

Pathways for Pulmonary Valve Stenosis

GO Terms for Pulmonary Valve Stenosis

Biological processes related to Pulmonary Valve Stenosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inner ear development GO:0048839 9.43 JAG1 PTPN11
2 epidermal growth factor receptor signaling pathway GO:0007173 9.4 PTPN11 SOS1
3 aortic valve morphogenesis GO:0003180 9.37 GATA4 JAG1
4 neurotrophin TRK receptor signaling pathway GO:0048011 9.32 PTPN11 SOS1
5 cardiac right ventricle morphogenesis GO:0003215 9.26 GATA4 JAG1
6 endocardial cushion development GO:0003197 9.16 CRELD1 GATA4
7 regulation of cardiac muscle cell contraction GO:0086004 8.96 GATA4 SCN5A
8 heart development GO:0007507 8.92 GATA4 NKX2-6 PTPN11 RBM20

Sources for Pulmonary Valve Stenosis

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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