MCID: PLM041
MIFTS: 47

Pulmonary Valve Stenosis

Categories: Rare diseases, Cardiovascular diseases, Fetal 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 patent foramen ovale. 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 56)
# Related Disease Score Top Affiliating Genes
1 pulmonic stenosis 31.7 JAG1 PTPN11 SOS1
2 patent foramen ovale 29.8 GATA4 TBX5
3 atrial heart septal defect 29.2 GATA4 NKX2-6 TBX5
4 patent ductus arteriosus 1 28.8 GATA4 NKX2-6 PTPN11
5 aortic valve disease 2 28.3 NKX2-6 TBX5
6 ventricular septal defect 28.2 GATA4 JAG1 NKX2-6 TBX5
7 tetralogy of fallot 27.2 GATA4 JAG1 NKX2-6 PTPN11 TBX5
8 noonan syndrome 1 11.1
9 kleefstra syndrome 11.1
10 cardiomyopathy, dilated, 1e 10.3 RBM20 SCN5A
11 familial isolated dilated cardiomyopathy 10.3 RBM20 SCN5A
12 intrinsic cardiomyopathy 10.2 RBM20 SCN5A
13 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.1 JAG1 PTPN11
14 noonan syndrome 3 10.0 PTPN11 SOS1
15 villonodular synovitis 10.0 PTPN11 SOS1
16 aging 10.0
17 endocarditis 10.0
18 aortic coarctation 10.0
19 costello syndrome 9.9 PTPN11 SOS1
20 hypoplastic left heart syndrome 1 9.9
21 congestive heart failure 9.9
22 hypoplastic left heart syndrome 9.9
23 hypertrophic cardiomyopathy 9.9
24 atrioventricular block 9.8 GATA4 SCN5A TBX5
25 cardiofaciocutaneous syndrome 1 9.8 PTPN11 SOS1
26 ebstein anomaly 9.8 GATA4 NKX2-6
27 prune belly syndrome 9.7
28 pulmonary hypertension, primary, 1 9.7
29 williams-beuren syndrome 9.7
30 ataxia-telangiectasia 9.7
31 pulmonary atresia with intact ventricular septum 9.7
32 hemophilia a 9.7
33 tricuspid atresia 9.7
34 infective endocarditis 9.7
35 sarcoma 9.7
36 pulmonary edema 9.7
37 purpura 9.7
38 cerebritis 9.7
39 tricuspid valve insufficiency 9.7
40 malignant hyperthermia 9.7
41 pulmonary embolism 9.7
42 muscular dystrophy 9.7
43 18p deletion syndrome 9.7
44 hemophilia 9.7
45 aneurysm 9.7
46 interatrial communication 9.7
47 atrial septal defect 4 9.7 GATA4 PTPN11 TBX5
48 tricuspid valve stenosis 9.6 JAG1 NKX2-6
49 familial atrial fibrillation 9.4 GATA4 NKX2-6 SCN5A
50 double outlet right ventricle 9.4 GATA4 NKX2-6

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 10.03 GATA4 RBM20 SCN5A JAG1 SOS1 NKX2-6
2 embryo MP:0005380 9.95 GATA4 SCN5A JAG1 SOS1 NKX2-6 TBX5
3 growth/size/body region MP:0005378 9.91 GATA4 SCN5A JAG1 SOS1 NKX2-6 TBX5
4 homeostasis/metabolism MP:0005376 9.87 PTPN11 RBM20 GATA4 JAG1 SOS1 NKX2-6
5 mortality/aging MP:0010768 9.8 PTPN11 GATA4 SCN5A JAG1 SOS1 NKX2-6
6 muscle MP:0005369 9.7 GATA4 RBM20 SCN5A JAG1 SOS1 TBX5
7 normal MP:0002873 9.43 GATA4 SCN5A JAG1 NKX2-6 TBX5 PTPN11
8 skeleton MP:0005390 9.02 PTPN11 GATA4 JAG1 SOS1 TBX5

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 Chelating Agents
6 Hormones
7 Anticoagulants
8 Bone Density Conservation Agents
9 Calcium, Dietary
10 Citrate Nutraceutical

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 Pulmonary Artery Repair With Covered Stents Completed NCT01824160 Not Applicable
9 Retrospective Pulmonary Valve Replacement Imaging Completed NCT00446108
10 CryoValve SG Pulmonary Human Heart Valve Post Clearance Study Completed NCT01092442
11 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
12 Early Re-intervention in Infants and Small Children After Correction of Tetralogy of Fallot Completed NCT00536432
13 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
14 PULSTA® Transcatheter Pulmonary Valve Korean Multicenter Study Recruiting NCT03110861 Not Applicable
15 COMPASSION XT PAS - Post-approval Study of the SAPIEN XT THV in Patients With Pulmonary Valve Dysfunction Recruiting NCT02987387 Not Applicable
16 Williams Syndrome (WS) and Supravalvular Aortic Stenosis (SVAS) DNA and Tissue Bank Recruiting NCT02706639
17 Multicenter Trial of Congenital Pulmonic Valve Dysfunction Studying the SAPIEN 3 THV With the Alterra Adaptive Prestent Recruiting NCT03130777 Not Applicable
18 Xeltis Bioabsorbable Pulmonary Valved Conduit Early Feasibility Study Recruiting NCT03022708 Not Applicable
19 COMPASSION S3 - Evaluation of the SAPIEN 3 Transcatheter Heart Valve in Patients With Pulmonary Valve Dysfunction Recruiting NCT02744677 Not Applicable
20 Tetralogy of Fallot for Life Recruiting NCT02968264
21 Pulmonic Valve REplacement Multi-discIpline EMEA Registry Active, not recruiting NCT01356108
22 COMPASSION - COngenital Multicenter Trial of Pulmonic VAlve Regurgitation Studying the SAPIEN InterventIONal THV Active, not recruiting NCT00676689 Not Applicable
23 A Feasibility Study to Evaluate the Safety and Short-term Effectiveness of Transcatheter Pulmonary Valve (TPV) Active, not recruiting NCT02555319 Not Applicable
24 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
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 180)
# 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
Percutaneous balloon pulmonary valvuloplasty (PBPV) of extreme pulmonary valve stenosis by the use of Accura balloon. ( 28978603 )
2017
6
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
7
Long-term results of percutaneous balloon valvuloplasty in neonatal critical pulmonary valve stenosis: a 20-year, single-centre experience. ( 28619122 )
2017
8
Results of pulmonary balloon valvuloplasty persist and improve at late follow-up in isolated pulmonary valve stenosis. ( 28651667 )
2017
9
Biventricular impact of mild to moderate pulmonary valve stenosis in fetal life. ( 28295792 )
2017
10
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
11
Unilateral absence of an external jugular vein in two English bulldogs with pulmonary valve stenosis. ( 28274588 )
2017
12
Dysplastic pulmonary valve stenosis associated with unilateral absent first metacarpal: A rare association. ( 28894588 )
2017
13
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
14
Percutaneous balloon valvuloplasty with Inoue balloon catheter technique for pulmonary valve stenosis in adolescents and adults. ( 28460765 )
2017
15
Long-Term Outcomes of Balloon Valvuloplasty for Isolated Pulmonary Valve Stenosis. ( 27826708 )
2016
16
Percutaneous balloon valvuloplasty in carcinoid pulmonary valve stenosis. ( 27976548 )
2016
17
Case 4/2016: 32-Year-Old Female, with Critical Pulmonary Valve Stenosis. Operated at 4 Months of Age, in Normal Healing Evolution. ( 27409129 )
2016
18
EP08.08: Critical pulmonary valve stenosis in dichorionic and diamniotic twins: prenatal diagnosis, pregnancy outcomes and postnatal development. ( 27646419 )
2016
19
Dual-Source Computed Tomography Evaluation of Children with Congenital Pulmonary Valve Stenosis. ( 27703660 )
2016
20
Percutaneous Pulmonary Balloon Valvuloplasty Provides Good Long-Term Outcomes in Adults With Pulmonary Valve Stenosis. ( 26301562 )
2015
21
Restrictive right ventricular performance assessed by cardiac magnetic resonance after balloon valvuloplasty of critical pulmonary valve stenosis. ( 26095337 )
2015
22
Prosthetic Pulmonary Valve Stenosis: A Different Way to Solve the Problem. ( 26354643 )
2015
23
Henoch-SchAPnlein purpura secondary to infective endocarditis in a patient with pulmonary valve stenosis and a ventricular septal defect. ( 25995673 )
2015
24
Interventional Treatment of Pulmonary Valve Stenosis: A Single Center Experience. ( 27275259 )
2015
25
Balloon valvuloplasty in dysplastic pulmonary valve stenosis: immediate and intermediate outcomes. ( 25604363 )
2015
26
Right juxtaposition and a tunnel between the atrial appendages in a patient with atrial septal defect and pulmonary valve stenosis. ( 25548354 )
2015
27
Comparison of medium-term results of transcatheter correction versus surgical treatment for secundum type atrial septal defect combined with pulmonary valve stenosis. ( 24898601 )
2014
28
Staged pulmonary valve balloon dilatation in patients with severe pulmonary valve stenosis and heart failure. ( 24677571 )
2014
29
Functional and haemodynamic assessment of mild-to-moderate pulmonary valve stenosis at rest and during exercise. ( 24780907 )
2014
30
A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis. ( 24498650 )
2014
31
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
32
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
33
Long-term results of percutaneous balloon valvuloplasty in pulmonary valve stenosis in the pediatric population. ( 24774730 )
2014
34
Alpha blocker and angiotensin-converting enzyme inhibitor in the management of severe pulmonary valve stenosis: from bench to bedside. ( 25543957 )
2014
35
Rebuttal: Percutaneous balloon dilation of severe pulmonary valve stenosis in patients with cyanosis and congestive heart failure. ( 24554586 )
2014
36
Utility of live/real time three-dimensional transesophageal echocardiography in the assessment and percutaneous intervention of bioprosthetic pulmonary valve stenosis. ( 24646027 )
2014
37
Long-term Results of Balloon Pulmonary Valvuloplasty in Children with Congenital Pulmonary Valve Stenosis. ( 23550107 )
2013
38
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
39
Single left coronary ostium and an anomalous prepulmonic right coronary artery in 2 dogs with congenital pulmonary valve stenosis. ( 23660401 )
2013
40
Delayed Success of Balloon Dilation for Coexisting Pulmonary Valve Stenosis and Sinotubular Narrowing. ( 23803015 )
2013
41
Immediate, short, intermediate and long-term results of balloon valvuloplasty in congenital pulmonary valve stenosis. ( 23737317 )
2013
42
Assessment of the vortex flow in the post-stenotic dilatation above the pulmonary valve stenosis in an infant using echocardiography vector flow mapping. ( 24135837 )
2013
43
Pulmonary valve regurgitation following balloon valvuloplasty for pulmonary valve stenosis: Single center experience. ( 24688230 )
2013
44
Percutaneous balloon dilation of severe pulmonary valve stenosis in patients with cyanosis and congestive heart failure. ( 24327397 )
2013
45
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
46
A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis. ( 24513334 )
2013
47
Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis. ( 23270675 )
2013
48
The Comparison between the Echocardiographic Data to the Cardiac Catheterization Data on the Diagnosis, Treatment, and Follow-Up in Patients Diagnosed as Pulmonary Valve Stenosis. ( 23560138 )
2013
49
Hypoplastic left heart syndrome, restrictive patent foramen ovale, and pulmonary valve stenosis: an unusual combination. ( 21984265 )
2012
50
Critical pulmonary valve stenosis and pulmonary atresia/intact ventricular septum: to lump or split? Examining procedural success and risk for reintervention. ( 22344996 )
2012

Variations for Pulmonary Valve Stenosis

ClinVar genetic disease variations for Pulmonary Valve Stenosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RBM20 NM_001134363.2(RBM20): c.1019C> T (p.Pro340Leu) single nucleotide variant Uncertain significance rs730880181 GRCh37 Chromosome 10, 112541386: 112541386
2 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:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 epidermal growth factor receptor signaling pathway GO:0007173 9.52 PTPN11 SOS1
2 inner ear development GO:0048839 9.51 JAG1 PTPN11
3 digestive tract development GO:0048565 9.49 GATA4 NKX2-6
4 ventricular septum development GO:0003281 9.48 GATA4 TBX5
5 cardiac muscle cell differentiation GO:0055007 9.46 GATA4 TBX5
6 neurotrophin TRK receptor signaling pathway GO:0048011 9.43 PTPN11 SOS1
7 cardiac right ventricle morphogenesis GO:0003215 9.4 GATA4 JAG1
8 atrial septum morphogenesis GO:0060413 9.37 GATA4 TBX5
9 endocardial cushion development GO:0003197 9.32 GATA4 TBX5
10 regulation of cardiac muscle cell contraction GO:0086004 9.26 GATA4 SCN5A
11 pericardium development GO:0060039 9.16 NKX2-6 TBX5
12 heart development GO:0007507 9.02 GATA4 NKX2-6 PTPN11 RBM20 TBX5
13 positive regulation of cardioblast differentiation GO:0051891 8.96 GATA4 TBX5

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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