MCID: CNG009
MIFTS: 21

Congenital Aortic Valve Stenosis

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Congenital Aortic Valve Stenosis

MalaCards integrated aliases for Congenital Aortic Valve Stenosis:

Name: Congenital Aortic Valve Stenosis 58 29

Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

ICD10 32 Q23.0
ICD10 via Orphanet 33 Q23.0
UMLS via Orphanet 71 C0152417
Orphanet 58 ORPHA3093

Summaries for Congenital Aortic Valve Stenosis

MalaCards based summary : Congenital Aortic Valve Stenosis is related to aortic valve disease 2 and aortic valve insufficiency. Affiliated tissues include heart, and related phenotypes are aortic valve stenosis and exertional dyspnea

Related Diseases for Congenital Aortic Valve Stenosis

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

(show all 12)
# Related Disease Score Top Affiliating Genes
1 aortic valve disease 2 11.0
2 aortic valve insufficiency 10.7
3 subvalvular aortic stenosis 10.2
4 congestive heart failure 10.2
5 pulmonary valve stenosis 10.2
6 aortic valve disease 1 10.0
7 endocardial fibroelastosis 10.0
8 patent ductus arteriosus 1 10.0
9 endocarditis 10.0
10 ventricular septal defect 10.0
11 heart septal defect 10.0
12 discrete subaortic stenosis 10.0

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



Diseases related to Congenital Aortic Valve Stenosis

Symptoms & Phenotypes for Congenital Aortic Valve Stenosis

Human phenotypes related to Congenital Aortic Valve Stenosis:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aortic valve stenosis 58 31 obligate (100%) Obligate (100%) HP:0001650
2 exertional dyspnea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002875
3 heart murmur 58 31 hallmark (90%) Very frequent (99-80%) HP:0030148
4 left ventricular hypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001712
5 aortic valve calcification 58 31 frequent (33%) Frequent (79-30%) HP:0004380
6 abnormal t-wave 58 31 frequent (33%) Frequent (79-30%) HP:0005135
7 aortic valve atresia 58 31 frequent (33%) Frequent (79-30%) HP:0010883
8 dysplastic aortic valve 58 31 frequent (33%) Frequent (79-30%) HP:0005176
9 increased qrs voltage 58 31 frequent (33%) Frequent (79-30%) HP:0025075
10 angina pectoris 58 31 occasional (7.5%) Occasional (29-5%) HP:0001681
11 endocarditis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100584
12 reduced ejection fraction 58 31 occasional (7.5%) Occasional (29-5%) HP:0012664
13 endocardial fibroelastosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001706
14 abnormal pulse pressure 58 31 occasional (7.5%) Occasional (29-5%) HP:0030850
15 sudden cardiac death 58 31 very rare (1%) Very rare (<4-1%) HP:0001645
16 thoracic aortic aneurysm 58 31 very rare (1%) Very rare (<4-1%) HP:0012727
17 left ventricular dysfunction 58 Occasional (29-5%)

Drugs & Therapeutics for Congenital Aortic Valve Stenosis

Search Clinical Trials , NIH Clinical Center for Congenital Aortic Valve Stenosis

Genetic Tests for Congenital Aortic Valve Stenosis

Genetic tests related to Congenital Aortic Valve Stenosis:

# Genetic test Affiliating Genes
1 Congenital Aortic Valve Stenosis 29

Anatomical Context for Congenital Aortic Valve Stenosis

MalaCards organs/tissues related to Congenital Aortic Valve Stenosis:

40
Heart

Publications for Congenital Aortic Valve Stenosis

Articles related to Congenital Aortic Valve Stenosis:

(show top 50) (show all 105)
# Title Authors PMID Year
1
Spatial N-glycomics of the human aortic valve in development and pediatric endstage congenital aortic valve stenosis. 61
33516683 2021
2
Physical models of infant mortality: implications for defects in biological systems. 61
33237338 2020
3
Rapid right ventricular pacing for balloon valvuloplasty in congenital aortic stenosis: A systematic review. 61
33312439 2020
4
[Long-term outcome of percutaneous balloon aortic valvuloplasty for children with congenital aortic valve stenosis]. 61
33076623 2020
5
Surgical and Transcatheter Treatments in Children with Congenital Aortic Stenosis. 61
32886929 2020
6
Commentary: Congenital Aortic Valve Stenosis: Defining the Path to Success. 61
32371173 2020
7
Outcomes Following Balloon Aortic Valvuloplasty Versus Surgical Valvotomy in Congenital Aortic Valve Stenosis: A Meta-Analysis. 61
31158809 2019
8
Congenital Aortic Valve Stenosis. 61
31086112 2019
9
Congenital Aortic Valve Stenosis: To Dilate or Operate? 61
30871758 2019
10
Balloon Aortic Valvuloplasty for Congenital Aortic Stenosis: A 14-Year Single Centre Review. 61
29625867 2019
11
Left Atrial Size and Function in Patients With Congenital Aortic Valve Stenosis. 61
30180956 2018
12
Hybrid Balloon Valvuloplasty for the Treatment of Severe Congenital Aortic Valve Stenosis in Infants. 61
28964424 2018
13
Balloon Aortic Valvuloplasty in a Premature Neonate with Critical Aortic Valve Stenosis Weighing 1493 g. 61
29375228 2018
14
Bioprosthetic aortic valve replacement 12 years after percutaneous aortic valvuloplasty in a young female adult with hope of pregnancy. 61
28163921 2016
15
[Balloon valvuloplasty for aortic stenosis using umbilical vein access in a newborn: First experience in Turkey]. 61
27665337 2016
16
Surgical Valvotomy Versus Balloon Valvuloplasty for Congenital Aortic Valve Stenosis: A Systematic Review and Meta-Analysis. 61
27503847 2016
17
MALDI Imaging Mass Spectrometry as a Lipidomic Approach to Heart Valve Research. 61
27989075 2016
18
Relation of Aortic Valve Morphologic Characteristics to Aortic Valve Insufficiency and Residual Stenosis in Children With Congenital Aortic Stenosis Undergoing Balloon Valvuloplasty. 61
26805657 2016
19
Exercise-induced ventricular re-polarisation changes in moderate congenital aortic valve stenosis. 61
25704167 2016
20
Progression of Aortic Regurgitation After Different Repair Techniques for Congenital Aortic Valve Stenosis. 61
26266328 2016
21
Genome-Wide DNA Methylation Analysis and Epigenetic Variations Associated with Congenital Aortic Valve Stenosis (AVS). 61
27152866 2016
22
Timing of Dynamic NT-proBNP and hs-cTnT Response to Exercise Challenge in Asymptomatic Children with Moderate Aortic Valve Regurgitation or Moderate Aortic Valve Stenosis. 61
26123813 2015
23
Is Aortic Valve Leaflet Morphology Predictive of Outcome in Pediatric Aortic Valve Stenosis? 61
26219421 2015
24
Long-Term Results of Balloon Valvuloplasty as Primary Treatment for Congenital Aortic Valve Stenosis: a 20-Year Review. 61
25788411 2015
25
Long-term outcome of congenital aortic valve stenosis: predictors of reintervention. 61
24983130 2015
26
Balloon dilation and surgical valvotomy comparison in non-critical congenital aortic valve stenosis. 61
25388630 2015
27
[Balloon valvuloplasty for congenital aortic valve stenosis in children]. 61
25476434 2014
28
Quantification of congenital aortic valve stenosis in pediatric patients: comparison between cardiac magnetic resonance imaging and transthoracic echocardiography. 61
24343730 2014
29
Infant congenital aortic valve stenosis: the pendulum swings. 61
23973691 2013
30
Surgical valvotomy and repair for neonatal and infant congenital aortic stenosis achieves better results than interventional catheterization. 61
23954309 2013
31
Influence of balloon size on aortic regurgitation in neonates undergoing balloon aortic valvuloplasty--a retrospective study over an 11-year period. 61
23406402 2013
32
Balloon angioplasty for congenital aortic valve stenosis. 61
22546211 2012
33
[Percutaneous balloon aortic valvuloplasty with rapid ventricular pacing in the right ventricle in managing congenital aortic valve stenosis in infants: report of 2 cases]. 61
22176913 2011
34
Balloon valvuloplasty in the treatment of congenital aortic valve stenosis--a retrospective multicenter survey of more than 1000 patients. 61
20153064 2011
35
[Percutaneous aortic valvuloplasty in congenital aortic valve stenosis performed in patients older than one month: a good alternative to surgery]. 61
21348183 2010
36
Selective tricuspidization and aortic cusp extension valvuloplasty: outcome analysis in infants and children. 61
20732505 2010
37
Redo-redo aortic root replacement with a mechanical valved conduit in a patient with von Willebrand's disease: Case report. 61
20707891 2010
38
Aortic cusp extension valvuloplasty with or without tricuspidization in children and adolescents: long-term results and freedom from aortic valve replacement. 61
20304137 2010
39
[Congenital aortic valve stenosis with very high pressure gradient in a pregnant patient]. 61
18946852 2008
40
[Experiences on surgical treatment of severe aortic valve stenosis: a report of 171 cases]. 61
19094563 2008
41
NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling. 61
18593716 2008
42
Aortic valvuloplasty in pediatric patients substantially postpones the need for aortic valve surgery: a single-center experience of 188 patients after up to 17.5 years of follow-up. 61
18285571 2008
43
Hemodynamic features of congenital aortic valve stenosis with patent ductus arteriosus in children. 61
18045295 2007
44
Aortic stenosis: the spectrum of practice. 61
17111288 2006
45
[Congenital aortic valve stenosis. Current treatment]. 61
17469343 2006
46
Congenital heart diseases in aged patients: clinical features, diagnosis, and therapeutic indications based on the analysis of a twenty five-year Medline search. 61
16230886 2005
47
[Congenital aortic valve stenosis with left ventricular dysfunction: effect of percutaneous valvuloplasty]. 61
15686194 2004
48
Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesions. 61
15342840 2004
49
Comparison of simultaneous invasive and noninvasive measurements of pressure gradients in congenital aortic valve stenosis. 61
12464918 2002
50
[Interventional paediatric cardiology in Vilnius]. 61
12560656 2002

Variations for Congenital Aortic Valve Stenosis

Expression for Congenital Aortic Valve Stenosis

Search GEO for disease gene expression data for Congenital Aortic Valve Stenosis.

Pathways for Congenital Aortic Valve Stenosis

GO Terms for Congenital Aortic Valve Stenosis

Sources for Congenital Aortic Valve Stenosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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