AS
MCID: ART019
MIFTS: 64

Aortic Valve Stenosis (AS) malady

Rare diseases, Cardiovascular diseases, Fetal diseases categories
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Summaries for Aortic Valve Stenosis

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NIH Rare Diseases:42 Aortic valve stenosis (avs) is a condition characterized by narrowing of the heart's aortic valve opening. this narrowing prevents the valve from opening fully, which obstructs blood flow from the heart into the aorta, and onward to the rest of the body. avs can range from mild to severe. signs and symptoms typically develop when the narrowing of the opening is severe and may include chest pain (angina) or tightness; shortness of breath or fatigue (especially during exertion); feeling faint or fainting; heart palpitations; and heart murmur. individuals with less severe congenital avs (present at birth) may not develop symptoms until adulthood. individuals with severe cases may faint without warning. the condition can eventually lead to heart failure. avs can have several causes including abnormal development before birth (such as having 1 or 2 valve leaflets instead of 3); calcium build-up on the valve in adulthood; and rheumatic fever. treatment may include medications to ease the symptoms, but surgery to repair or replace the valve is the only way to eliminate the condition. last updated: 7/5/2013

MalaCards based summary: Aortic Valve Stenosis, also known as aortic stenosis, is related to hypertension and essential hypertension. An important gene associated with Aortic Valve Stenosis is DLX5 (distal-less homeobox 5), and among its related pathways is Visual Cycle in Retinal Rods. The compounds urodilatin and atrial natriuretic factor (1-28) (human, porcine) have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and endothelial, and related mouse phenotypes are reproductive system and respiratory system.

Disease Ontology:8 An aortic valve disease that has physical basis in incomplete opening of the aortic valve.

Wikipedia:65 Aortic valve stenosis (AS) is a disease of the heart valves in which the opening of the aortic valve is... more...

Description from OMIM:46 109730

Aliases & Classifications for Aortic Valve Stenosis

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 62UMLS, 44Novoseek, 48Orphanet, 57SNOMED-CT, 39NCIt, 46OMIM, 27ICD9CM, 34MeSH, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
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Related Diseases for Aortic Valve Stenosis

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



Diseases related to aortic valve stenosis

Symptoms for Aortic Valve Stenosis

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Clinical features from OMIM:

109730

Drugs & Therapeutics for Aortic Valve Stenosis

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Drug clinical trials:

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Search NIH Clinical Center for Aortic Valve Stenosis

Genetic Tests for Aortic Valve Stenosis

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Anatomical Context for Aortic Valve Stenosis

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MalaCards organs/tissues related to Aortic Valve Stenosis:

32
Heart, Testes, Endothelial, Bone, Kidney, Monocytes, Whole blood, Brain, Smooth muscle, Colon

Animal Models for Aortic Valve Stenosis or affiliated genes

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MGI Mouse Phenotypes related to Aortic Valve Stenosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.7NPPC, NPR1, NPR2, APLNR
2MP:00053888.2MGP, DLX5, NPR2, NPR1
3MP:00053908.2MGP, DLX5, NPR2, NPPC
4MP:00053787.6MGP, AHSG, APLNR, DLX5, NPR2, NPPC
5MP:00053857.4MGP, ATP6AP2, APLNR, DLX5, NPR2, NPR1
6MP:00053767.4MGP, AHSG, APLNR, NPR2, NPR1, NPPC
7MP:00107687.0MGP, ATP6AP2, APLNR, DLX5, NPR2, NPR1
8MP:00053697.0NPR1, MGP, ATP6AP2, AHSG, APLNR, DLX5

Publications for Aortic Valve Stenosis

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Articles related to Aortic Valve Stenosis:

(show top 50)    (show all 519)
idTitleAuthorsYear
1
Mitral annular calcification in patients undergoing aortic valve replacement for aortic valve stenosis. (25252778)
2014
2
Aortic Valve Replacement Reduces Valvuloarterial Impedance but Does Not Affect Systemic Arterial Compliance in Elderly Men with Degenerative Calcific Trileaflet Aortic Valve Stenosis. (25267695)
2014
3
Unusual association of aortic valve stenosis with ventricular septal defect and pulmonary atresia: Differentiation from truncus arteriosus with truncal valve stenosis. (23626446)
2013
4
Congenital unicuspid aortic valve stenosis in siblings. (23709159)
2013
5
Progression of aortic valve stenosis is associated with bone remodelling and secondary hyperparathyroidism in elderly patients--the COFRASA study. (23329150)
2013
6
Risk of late aortic events after an isolated aortic valve replacement for bicuspid aortic valve stenosis with concomitant ascending aortic dilation. (22466700)
2012
7
Treatment of aortic valve stenosis and gastrointestinal bleeding by transcatheter aortic valve implantation in Heyde syndrome. (22989800)
2012
8
Echocardiographic surveillance of aortic valve stenosis: towards a standardized approach. (23409349)
2012
9
Aortic valve stenosis in community medical practice: determinants of outcome and implications for aortic valve replacement. (22336754)
2012
10
Association between plasma asymmetrical dimethylarginine activity and severity of aortic valve stenosis. (20625307)
2011
11
Noninvasive assessment of filling pressure and left atrial pressure overload in severe aortic valve stenosis: relation to ventricular remodeling and clinical outcome after aortic valve replacement. (21353251)
2011
12
Progression rate of aortic valve stenosis in korean patients. (21253361)
2010
13
Real-time three-dimensional transoesophageal echocardiography in the assessment of aortic valve stenosis. (19805413)
2010
14
In vitro investigation of the impact of aortic valve stenosis severity on left coronary artery flow. (20387975)
2010
15
Examination of periodontal pathogens in stenotic valve specimens and in whole blood samples in patients affected by aortic valve stenosis and chronic periodontitis. (20646351)
2010
16
Aortic valve stenosis. (19825490)
2009
17
Intestinal angiodysplasia and aortic valve stenosis: let's not close the book on this association. (19216082)
2009
18
Surgical considerations on the use of the percutaneous ventricular assist device TandemHeart in critical aortic valve stenosis. (19169999)
2009
19
Usefulness of serial brain natriuretic peptide measurements for managing aortic valve stenosis in pregnancy. (19633743)
2009
20
TandemHeart as a rescue therapy for patients with critical aortic valve stenosis. (19932242)
2009
21
Recent advances in medical treatment and percutaneous, transapical and surgical interventions in aortic-valve stenosis. (20948755)
2009
22
Do statins slow the progression of aortic valve stenosis? (18413348)
2008
23
Usefulness of left ventricular shape to predict the early recovery of left ventricular function after isolated aortic valve replacement for aortic valve stenosis. (19026309)
2008
24
Functional differences of left ventricular hypertrophy induced by either arterial hypertension or aortic valve stenosis. (18471464)
2008
25
The value of percutaneous coronary intervention in aortic valve stenosis with coronary artery disease. (17275462)
2007
26
Fetal transesophageal echocardiography during balloon valvuloplasty for severe aortic valve stenosis at 28+6 weeks of gestation. (17599528)
2007
27
Ochronosis and aortic valve stenosis. (16492283)
2006
28
A medical therapy for aortic valve sclerosis and aortic valve stenosis? Rationale of the ASSIST study (Asymptomatic aortic Sclerosis/Stenosis: Influence of STatins): a large, observational, prospective, multicenter study of the Italian Society of Cardiovascular Echography. (16801806)
2006
29
Accuracy of multislice computed tomography in the preoperative assessment of coronary disease in patients with aortic valve stenosis. (16697319)
2006
30
Management strategy for very mild aortic valve stenosis. (16411151)
2006
31
A hybrid approach for quantification of aortic valve stenosis using cardiac magnetic resonance imaging and echocardiography: comparison to right heart catheterization and standard echocardiography. (16598529)
2006
32
Type I and type III collagen synthesis and composition in the valve matrix in aortic valve stenosis. (16405893)
2006
33
Quantification of aortic valve area and left ventricular muscle mass in healthy subjects and patients with symptomatic aortic valve stenosis by MRI. (15747039)
2005
34
The evaluation of aortic atherosclerosis and distensibility in aortic valve stenosis--the role of transesophageal echocardiography. (16256821)
2005
35
Heterogeneous geographic distribution of patients with aortic valve stenosis: arguments for new aetiological hypothesis. (15657257)
2005
36
Persistence of Chlamydia pneumoniae in degenerative aortic valve stenosis indicated by heat shock protein 60 homologues. (12578339)
2003
37
Carotid artery approach as an alternative to femoral access for balloon dilation of aortic valve stenosis in neonates and infants. (17639493)
2003
38
Comparison of simultaneous invasive and noninvasive measurements of pressure gradients in congenital aortic valve stenosis. (12464918)
2002
39
Subannular left ventricular aneurysm in a patient with bicuspid aortic valve stenosis. (12478821)
2002
40
Endoventricular circular patch plasty with aortic valve replacement for post-infarction cardiac rupture complicated with aortic valve stenosis: case report. (12381096)
2002
41
Aortic valve stenosis induced by left ventricular assist device (LVAD). (11250324)
2001
42
Hemodynamic changes pre- and post-pacing with complete heart block and aortic valve stenosis and regurgitation. (8808078)
1996
43
Changes in phasic coronary blood flow velocity profile in relation to changes in hemodynamic parameters during stress in patients with aortic valve stenosis. (7664424)
1995
44
Valvular and systemic arterial hemodynamics in aortic valve stenosis. A model-based approach. (7664429)
1995
45
Neurohormonal profile in aortic valve stenosis]. (8291934)
1993
46
In response to: Nygaard H, Thuesen L, Hasenkam JM, Pedersen EM. Assessing the severity of aortic valve stenosis by spectral analysis of cardiac murmurs (spectral vibrocardiography) Part I and Part II. (8269175)
1993
47
The progression of mild congenital aortic valve stenosis from childhood into adult life. (8138329)
1993
48
Percutaneous closure of a secundum atrial septal defect and double balloon valvotomies of a severe mitral and aortic valve stenosis in a patient with Lutembacher's syndrome and severe pulmonary hypertension. (1373992)
1992
49
Effect of aortic valve stenosis (pressure overload) and regurgitation (volume overload) on left ventricular systolic and diastolic function. (1550023)
1992
50
Reduced left ventricular size and endocardial fibroelastosis as correlates of mortality in newborns and young infants with severe aortic valve stenosis. (6672782)
1983

Variations for Aortic Valve Stenosis

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Expression for genes affiliated with Aortic Valve Stenosis

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Expression patterns in normal tissues for genes affiliated with Aortic Valve Stenosis

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Pathways for genes affiliated with Aortic Valve Stenosis

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Pathways related to Aortic Valve Stenosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5NPR1, NPR2

Compounds for genes affiliated with Aortic Valve Stenosis

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Compounds related to Aortic Valve Stenosis according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1urodilatin449.8NPPC, NPR1
2atrial natriuretic factor (1-28) (human, porcine)619.8NPR1, NPR2
3c-type natriuretic peptide (1-22) (human, rat, swine)619.8NPR2, NPR1
4atrial natriuretic factor (1-28) (rat)619.8NPR2, NPR1
5brain natriuretic peptide (1-32) (human)619.8NPR2, NPR1
68-bromo cgmp449.8NPR1, NPPC
7Cyclic GMP249.6NPR1, NPR2
8sodium nitroprusside449.4NPR2, NPR1, NPPC
9guanylate449.3NPPC, NPR1, NPR2
10cgmp44 2810.3NPPC, NPR1, NPR2
11dexamethasone44 50 28 1112.3NPPC, NPR2, DLX5
12forskolin44 50 1111.1NPR2, NPR1, NPPC
13hydroxyapatite449.0AHSG, MGP
14pyrophosphate44 249.8MGP, NPR2, NPR1
15vitamin d448.8NPR1, AHSG, MGP
16serine448.0MGP, NPR2, NPR1, NPPC

GO Terms for genes affiliated with Aortic Valve Stenosis

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Biological processes related to Aortic Valve Stenosis according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of cGMP biosynthetic processGO:0308289.7NPR1, NPPC
2positive regulation of osteoblast differentiationGO:0456699.7DLX5, NPPC
3regulation of blood vessel sizeGO:0508809.6NPPC, NPR1
4skeletal system developmentGO:0015019.6DLX5, AHSG
5cGMP biosynthetic processGO:0061829.3NPPC, NPR1, NPR2
6receptor guanylyl cyclase signaling pathwayGO:0071689.3NPPC, NPR1, NPR2
7regulation of blood pressureGO:0082179.2NPR1, NPR2
8regulation of bone mineralizationGO:0305009.1AHSG, MGP
9ossificationGO:0015038.5MGP, AHSG, NPR2, NPPC

Molecular functions related to Aortic Valve Stenosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1natriuretic peptide receptor activityGO:0169419.6NPR1, NPR2
2guanylate cyclase activityGO:0043839.5NPR1, NPR2
3peptide hormone bindingGO:0170469.5NPR1, NPR2
4hormone bindingGO:0425629.4NPR2, NPR1
5receptor activityGO:0048728.7NPR2, APLNR, ATP6AP2

Products for genes affiliated with Aortic Valve Stenosis

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Sources for Aortic Valve Stenosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet