MCID: SBV001
MIFTS: 32

Subvalvular Aortic Stenosis

Categories: Rare diseases, Cardiovascular diseases

Aliases & Classifications for Subvalvular Aortic Stenosis

MalaCards integrated aliases for Subvalvular Aortic Stenosis:

Name: Subvalvular Aortic Stenosis 12 50 14
Aortic Stenosis, Subvalvular 42
Subaortic Stenosis 69

Classifications:



External Ids:

Disease Ontology 12 DOID:5805
MeSH 42 D001020
NCIt 47 C85172
SNOMED-CT 64 204368006 250915007
UMLS 69 C0340375

Summaries for Subvalvular Aortic Stenosis

MalaCards based summary : Subvalvular Aortic Stenosis, also known as aortic stenosis, subvalvular, is related to ventricular septal defect and beckwith-wiedemann syndrome. An important gene associated with Subvalvular Aortic Stenosis is CRELD1 (Cysteine Rich With EGF Like Domains 1), and among its related pathways/superpathways is Sphingolipid metabolism. The drugs Spironolactone and Regadenoson have been mentioned in the context of this disorder. Affiliated tissues include heart, endothelial and testes, and related phenotype is Decreased shRNA abundance (Z-score < -2).

Related Diseases for Subvalvular Aortic Stenosis

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

(show all 14)
id Related Disease Score Top Affiliating Genes
1 ventricular septal defect 10.2
2 beckwith-wiedemann syndrome 9.9
3 marfan syndrome 9.9
4 pulmonic stenosis 9.9
5 congestive heart failure 9.9
6 fibroma 9.9
7 pulmonary edema 9.9
8 tuberous sclerosis 9.9
9 congenital mitral stenosis 9.9
10 cardiomyopathy 9.9
11 left ventricular outflow tract obstruction 9.9
12 aneurysm 9.9
13 childhood parosteal osteogenic sarcoma 9.2 BAG6 CRELD1 NEU2
14 adenosine deaminase deficiency 7.6 BAG6 CRELD1 NEU2 PICALM SPTLC1

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



Diseases related to Subvalvular Aortic Stenosis

Symptoms & Phenotypes for Subvalvular Aortic Stenosis

GenomeRNAi Phenotypes related to Subvalvular Aortic Stenosis according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 9.81 CRELD1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.81 CRELD1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-141 9.81 SPTLC1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.81 CRELD1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 9.81 SPTLC1 CRELD1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.81 CRELD1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.81 SPTLC1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.81 SPTLC1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.32 SPTLC1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.32 CRELD1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.32 CRELD1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.32 CRELD1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.32 SPTLC1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.32 SPTLC1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.32 SPTLC1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.32 CRELD1 SPTLC1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.32 SPTLC1
18 Increased HPV16-GFP infection GR00350-A 8.96 BAG6 PICALM

Drugs & Therapeutics for Subvalvular Aortic Stenosis

Drugs for Subvalvular Aortic Stenosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 83)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
2
Regadenoson Approved Phase 4 313348-27-5 219024
3
Ranolazine Approved, Investigational Phase 4 142387-99-3, 95635-55-5 56959
4
Adenosine Approved, Investigational Phase 4 58-61-7 60961
5 diuretics Phase 4
6 Mineralocorticoid Receptor Antagonists Phase 4
7 Mineralocorticoids Phase 4
8 Natriuretic Agents Phase 4
9 Hormone Antagonists Phase 4
10 Hormones Phase 4
11 Diuretics, Potassium Sparing Phase 4
12 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
13 Vasodilator Agents Phase 4,Phase 2,Phase 3
14 Analgesics Phase 4,Phase 3,Phase 2
15 Sodium Channel Blockers Phase 4
16 Anti-Arrhythmia Agents Phase 4,Phase 3,Phase 2
17 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
18 Neurotransmitter Agents Phase 4
19
Ethanol Approved Phase 3,Phase 2 64-17-5 702
20
Diltiazem Approved Phase 2, Phase 3 42399-41-7 39186
21
Amiodarone Approved, Investigational Phase 3 1951-25-3 2157
22
Perhexiline Approved Phase 3,Phase 2 6621-47-2 4746
23
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
24 Antihypertensive Agents Phase 2, Phase 3
25 Atorvastatin Calcium Phase 3 134523-03-8
26 calcium channel blockers Phase 2, Phase 3
27 Central Nervous System Depressants Phase 3,Phase 2
28 Analgesics, Non-Narcotic Phase 3,Phase 2
29 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
30 Hypolipidemic Agents Phase 3
31 Anti-Infective Agents Phase 3,Phase 2,Phase 1
32 Anticholesteremic Agents Phase 3
33 Anti-Infective Agents, Local Phase 3,Phase 2
34 Anti-Inflammatory Agents Phase 3,Phase 2
35 Anti-Inflammatory Agents, Non-Steroidal Phase 3,Phase 2
36 Lipid Regulating Agents Phase 3
37 Antimetabolites Phase 3
38 Antirheumatic Agents Phase 3,Phase 2
39 Calcium, Dietary Phase 2, Phase 3
40 Fibrinolytic Agents Phase 3
41 Cyclooxygenase Inhibitors Phase 3
42 Platelet Aggregation Inhibitors Phase 3
43 Antipyretics Phase 3
44
Dipyridamole Approved Phase 2 58-32-2 3108
45
Candesartan Approved Phase 2 139481-59-7 2541
46
Trimetazidine Approved Phase 2 5011-34-7
47
Losartan Approved Phase 2 114798-26-4 3961
48
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
49
Valsartan Approved, Investigational Phase 2 137862-53-4 60846
50
Angiotensin II Investigational Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198 65143

Interventional clinical trials:

(show top 50) (show all 110)

id Name Status NCT ID Phase Drugs
1 Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Cardiomyopathy Unknown status NCT00879060 Phase 4 spironolactone
2 Ranolazine for the Treatment of Chest Pain in HCM Patients Completed NCT01721967 Phase 4 Ranolazine
3 Microvascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve Recruiting NCT03249272 Phase 4 Regadenoson;Adenosine
4 Evaluating the Effect of Spironolactone on Hypertrophic Cardiomyopathy Not yet recruiting NCT02948998 Phase 4 Spironolactone
5 Diastolic Ventricular Interaction and the Effects of Biventricular Pacing in Hypertrophic Cardiomyopathy Unknown status NCT00698074 Phase 3
6 Treatment of Preclinical Hypertrophic Cardiomyopathy With Diltiazem Completed NCT00319982 Phase 2, Phase 3 Diltiazem;Placebo
7 Study to Determine if Atorvastatin Reduces Size and Stiffness of Muscle in the Left Ventricle of the Heart Completed NCT00317967 Phase 3 Atorvastatin;Placebo
8 Antiarrhythmic Therapy Versus Catheter Ablation for Atrial Fibrillation in Hypertrophic Cardiomyopathy Completed NCT00821353 Phase 3 Antiarrhythmic drugs
9 The PARTNER 3 - AVIV Trial Recruiting NCT03003299 Phase 3
10 Mobilization of Endothelial Progenitor Cells and Aspirin Recruiting NCT02674958 Phase 3 Aspirin
11 Effect of Eleclazine (GS-6615) on Exercise Capacity in Subjects With Symptomatic Hypertrophic Cardiomyopathy Terminated NCT02291237 Phase 2, Phase 3 Eleclazine;Placebo
12 Efficacy, Safety, and Tolerability of Perhexiline in Subjects With Hypertrophic Cardiomyopathy and Heart Failure Withdrawn NCT02431221 Phase 3 Perhexiline;Placebo
13 Trimetazidine Therapy in Hypertrophic Cardiomyopathy Unknown status NCT01696370 Phase 2 Trimetazidine
14 CHANCE - Candesartan in Hypertrophic Cardiomyopathy Unknown status NCT00430833 Phase 2 candesartan
15 Hypertrophic Cardiomyopathy Symptom Release by BX1514M Completed NCT02590809 Phase 2 Treatment BX1514M;Placebo
16 Inhibition of the Renin Angiotensin System With Losartan in Patients With Hypertrophic Cardiomyopathy Completed NCT01447654 Phase 2 Losartan;Placebo
17 Effect of Losartan in Patients With Nonobstructive Hypertrophic Cardiomyopathy Completed NCT01150461 Phase 2 losartan;placebo
18 Perhexiline Therapy in Patients With Hypertrophic Cardiomyopathy Completed NCT00500552 Phase 2 Perhexiline/Placebo
19 Alcohol Septal Ablation in Obstructive Hypertrophic Cardiomyopathy: A Pilot Study Completed NCT00035386 Phase 2
20 Pirfenidone to Treat Hypertrophic Cardiomyopathy Completed NCT00011076 Phase 2 Pirfenidone
21 Cyclosporine A to Treat Hypertrophic Cardiomyopathy (HCM) Completed NCT00001965 Phase 2 Cyclosporine A
22 Studying the Effectiveness of Pacemaker Therapy in Children Who Have Thickened Heart Muscle Completed NCT00001960 Phase 2
23 A Comparison of Two Treatments: Pacemaker and Percutaneous Transluminal Septal Ablation for Hypertrophic Cardiomyopathy Completed NCT00001894 Phase 2
24 Study of Blood Flow in Heart Muscle Completed NCT00001631 Phase 2
25 Valsartan for Attenuating Disease Evolution In Early Sarcomeric HCM Recruiting NCT01912534 Phase 2 Valsartan;Placebo
26 CArdiac Desynchronization In Obstructive HCM, CARDIO-HCM Recruiting NCT01332162 Phase 2
27 A Phase 2 Open-label Pilot Study Evaluating MYK-461 in Subjects With Symptomatic Hypertrophic Cardiomyopathy and Left Ventricular Outflow Tract Obstruction Active, not recruiting NCT02842242 Phase 2 MYK-461
28 Open-Label Study of Perhexiline in Patients With Hypertrophic Cardiomyopathy and Moderate to Severe Heart Failure Terminated NCT02862600 Phase 2 Perhexiline
29 Study to Develop a Non-invasive Marker for Monitoring Myocardial Fibrosis Terminated NCT01230918 Phase 2
30 Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic Cardiomyopathy Withdrawn NCT01556568 Phase 2 MEK162
31 Biventricular Pacing in Hypertrophic Cardiomyopathy Unknown status NCT00504647 Phase 1
32 Study Evaluating the Safety, Tolerability and Preliminary Pharmacokinetics and Pharmacodynamics of MYK-461 Completed NCT02329184 Phase 1 MYK-461
33 Hypertrophic Regression With N-Acetylcysteine in HCM Completed NCT01537926 Phase 1 N-acetylcysteine;Placebo
34 Natural History and Results of Dual Chamber (DDD) Pacemaker Therapy of Children With Obstructive Hypertrophic Cardiomyop... Completed NCT00001396 Phase 1
35 Nitrite in Hypertrophic Cardiomyopathy (HCM) Study Recruiting NCT03251287 Phase 1 Sodium Nitrate;Placebo
36 Morbidity and Mortality in Patients With Hypertrophic Cardiomyopathy: a CALIBER Study Unknown status NCT02424994
37 Study of Hypertrophic Cardiomyopathy Under Stress Conditions. Concordance Between Two Complementary Tests: Stress MRI and Exercice Stress Echocardiography Unknown status NCT02500420
38 CRyo-Ablation to Treat Patients With HOCM. Unknown status NCT01875016
39 Exercise Training in Patients With Hypertrophic Cardiomyopathy Unknown status NCT01518114
40 Exercise Study Including Patients With Hypertrophic Cardiomyopathy Unknown status NCT01165749
41 Assessment of Left Ventricular Torsion by Echocardiography Study Unknown status NCT00589836
42 Comparison of Data Obtained by Echocardiography and Magnetic Resonance Imaging in Hypertrophic Cardiomyopathy Unknown status NCT00315783
43 The Genetics of Cardiomyopathy and Heart Failure Unknown status NCT00703443
44 Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy Unknown status NCT01623245
45 Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases Unknown status NCT00221832
46 Refining Information Technology Support for Genetics in Medicine Unknown status NCT01225978
47 Surgical Treatment of Hypertrophic Obstructive Cardiomyopathy With Severe Mitral Insufficiency. Completed NCT02054221
48 Genetic Analysis of Familial Hypertrophic Cardiomyopathy Completed NCT00005251
49 The Perceived Impact of Children s Risk Status for Hypertrophic Cardiomyopathy on Families: an Exploratory Study Completed NCT01160536
50 Screening for Inherited Heart Disease Completed NCT00001746

Search NIH Clinical Center for Subvalvular Aortic Stenosis

Cochrane evidence based reviews: aortic stenosis, subvalvular

Genetic Tests for Subvalvular Aortic Stenosis

Anatomical Context for Subvalvular Aortic Stenosis

MalaCards organs/tissues related to Subvalvular Aortic Stenosis:

39
Heart, Endothelial, Testes, Brain

Publications for Subvalvular Aortic Stenosis

Articles related to Subvalvular Aortic Stenosis:

(show top 50) (show all 87)
id Title Authors Year
1
Severe Valvular Aortic Stenosis and Fixed Subvalvular Aortic Stenosis: A Rare and Challenging Combination. ( 28820560 )
2017
2
Unrecognized subvalvular aortic stenosis: Lessons, insights, and solutions. ( 28833554 )
2017
3
Continuous spinal labor analgesia for two deliveries in a parturient with severe subvalvular aortic stenosis. ( 27549335 )
2016
4
Severe Gastrointestinal Bleeding in a Patient With Subvalvular Aortic Stenosis Treated With Thalidomide and Octreotide: Bridging to Transcoronary Ablation of Septal Hypertrophy. ( 26491506 )
2015
5
Long-term outcomes and risk factors for aortic regurgitation after discrete subvalvular aortic stenosis resection in children. ( 26238147 )
2015
6
Subvalvular Aortic Stenosis. ( 26731888 )
2015
7
Paediatric subvalvular aortic stenosis: a systematic review and meta-analysis of natural history and surgical outcome. ( 25378361 )
2014
8
A single codon insertion in PICALM is associated with development of familial subvalvular aortic stenosis in Newfoundland dogs. ( 24898977 )
2014
9
A single codon insertion in the PICALM gene is not associated with subvalvular aortic stenosis in Newfoundland dogs. ( 25391634 )
2014
10
Evaluation of subvalvular aortic stenosis in children: a 16-year single-center experience. ( 23456292 )
2013
11
Combined subvalvular aortic stenosis, subvalvular pulmonary stenosis and membranous ventricular septal defect. ( 23907922 )
2013
12
Subvalvular aortic stenosis diagnosed by 3D transesophageal echocardiography. ( 27277102 )
2013
13
Familial subvalvular aortic stenosis in golden retrievers: inheritance and echocardiographic findings. ( 22417094 )
2012
14
Recurrent subaortic membrane causing subvalvular aortic stenosis 13 years after primary surgical resection. ( 21367685 )
2011
15
Multidetector computed tomographic assessment of subvalvular aortic stenosis. ( 21216335 )
2011
16
Percutaneous relief of valvular and subvalvular aortic stenosis. ( 20333773 )
2010
17
Echo rounds: discrete subvalvular aortic stenosis. ( 20142351 )
2010
18
Mitral insufficiency 30 years after resection of subvalvular aortic stenosis. ( 20304862 )
2010
19
Subvalvular aortic stenosis. ( 20145603 )
2010
20
Subvalvular aortic stenosis associated with valvular aortic regurgitation in young child. ( 18199503 )
2009
21
Asymptomatic double site of left ventricular outflow tract obstruction: subvalvular aortic stenosis associated with valvular aortic stenosis. ( 18160150 )
2009
22
Congenital mitral stenosis, subvalvular aortic stenosis, and congestive heart failure in a duck. ( 18485855 )
2008
23
Subvalvular aortic stenosis: comprehensive cardiac evaluation with dual-source computed tomography. ( 17599520 )
2007
24
A patient with cardiac fibroma and a subvalvular aortic stenosis caused by a subvalvular membrane. ( 17617321 )
2007
25
Subvalvular aortic stenosis as a cause of sudden death: two case reports. ( 16501359 )
2006
26
Survival times in dogs with severe subvalvular aortic stenosis treated with balloon valvuloplasty or atenolol. ( 16121608 )
2005
27
The relationship of resting S-T segment depression to the severity of subvalvular aortic stenosis and the presence of ventricular premature complexes in the dog. ( 14736901 )
2004
28
Surgical correction of subvalvular aortic stenosis using cardiopulmonary bypass in a dog. ( 15187370 )
2004
29
Chordae tendineae rupture resulting in pulmonary edema in a patient with discrete subvalvular aortic stenosis--a case report and literature review. ( 14565639 )
2003
30
Discrete subvalvular aortic stenosis in adults. ( 11291980 )
2001
31
Influence of open surgical correction on intermediate-term outcome in dogs with subvalvular aortic stenosis: 44 cases (1991-1998). ( 10668534 )
2000
32
Subvalvular Aortic Stenosis. ( 11096556 )
2000
33
Discrete subvalvular aortic stenosis. ( 11310391 )
2000
34
Clinical and pathological findings of severe subvalvular aortic stenosis and mitral dysplasia in a rottweiler puppy. ( 9816571 )
1998
35
Type II aortic dissection complicating discrete subvalvular aortic stenosis in an adult man. ( 9571593 )
1998
36
Surgical management of subvalvular aortic stenosis and mitral dysplasia in a golden retriever. ( 9200115 )
1997
37
"Acquired" subvalvular aortic stenosis after repair of several congenital cardiac defects. ( 8701481 )
1996
38
Open resection for subvalvular aortic stenosis in dogs. ( 8837645 )
1996
39
"Diverticula" of anterior mitral valve leaflet as a cause of subvalvular aortic stenosis. ( 8793682 )
1996
40
Familial bilateral blepharoptosis and subvalvular aortic stenosis. ( 8588851 )
1995
41
Transaortic resection of the subaortic membrane. Treatment for subvalvular aortic stenosis. ( 8020319 )
1994
42
Pulmonic stenosis and subvalvular aortic stenosis: surgical options. ( 7839033 )
1994
43
Resection of subvalvular aortic stenosis. Surgical and perioperative management in seven dogs. ( 8116196 )
1993
44
Discrete subvalvular aortic stenosis in the Beckwith-Wiedemann syndrome. ( 8415229 )
1993
45
Ventricular septal defect creation for relief of tunnel subvalvular aortic stenosis. ( 8452447 )
1993
46
"Acquired" subvalvular aortic stenosis after repair of a ventricular septal defect. ( 1729055 )
1992
47
Closed transventricular dilation of discrete subvalvular aortic stenosis in dogs. ( 1455646 )
1992
48
Discrete subvalvular aortic stenosis: is the presence of upstream complex blood flow disturbances an important pathogenic factor? ( 1545078 )
1992
49
Echocardiographic assessment of subvalvular aortic stenosis before and after operation. ( 1552088 )
1992
50
Surgical treatment of subvalvular aortic stenosis. Long-term results. ( 2324180 )
1990

Variations for Subvalvular Aortic Stenosis

Expression for Subvalvular Aortic Stenosis

Search GEO for disease gene expression data for Subvalvular Aortic Stenosis.

Pathways for Subvalvular Aortic Stenosis

Pathways related to Subvalvular Aortic Stenosis according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.03 NEU2 SPTLC1

GO Terms for Subvalvular Aortic Stenosis

Cellular components related to Subvalvular Aortic Stenosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 intracellular membrane-bounded organelle GO:0043231 8.8 BAG6 NEU2 PICALM

Sources for Subvalvular Aortic Stenosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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