AOVD2
MCID: ART101
MIFTS: 71

Aortic Valve Disease 2 (AOVD2)

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Aortic Valve Disease 2

MalaCards integrated aliases for Aortic Valve Disease 2:

Name: Aortic Valve Disease 2 57 11 73 28 5 71
Aortic Valve Stenosis 57 11 19 75 73 5 43 14 71 33
Aortic Stenosis 11 19 53 14 38 16 75
Rheumatic Aortic Stenosis 11 71 31
Rheumatic Aortic Valve Stenosis 11 33
Valvular Aortic Stenosis 19 33
Bicuspid Aortic Valve 57 73
Aovd2 57 73
Rheumatic Aortic Valve Stenosis with Insufficiency 33
Rheumatic Aortic Stenosis with Regurgitation 33
Rheumatic Aortic Stenosis with Incompetence 33
Rheumatic Aortic Valve Obstruction 33
Aortic Insufficiency with Stenosis 33
Aortic Valve Disease, Type 2 38
Rheumatic Aortic Obstruction 33
Rheumatic Aortic Stricture 33
Aortic Valve Regurgitation 33
Aortic Valve Obstruction 33
Aortic Valve Stricture 33
Obstructed Aorta Valve 33

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:



External Ids:

Disease Ontology 11 DOID:0080334 DOID:1712
OMIM® 57 614823
OMIM Phenotypic Series 57 PS109730
ICD9CM 34 395.0 746.3
MeSH 43 D001024
NCIt 49 C50462
MedGen 40 C3542024
SNOMED-CT via HPO 69 67362008 72352009 7305005
UMLS 71 C0003507 C0152417 C0155567 more

Summaries for Aortic Valve Disease 2

GARD: 19 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. 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.

MalaCards based summary: Aortic Valve Disease 2, also known as aortic valve stenosis, is related to holt-oram syndrome and aortic aneurysm. An important gene associated with Aortic Valve Disease 2 is SMAD6 (SMAD Family Member 6), and among its related pathways/superpathways are Human Embryonic Stem Cell Pluripotency and Mesenchymal Stem Cells and Lineage-specific Markers. The drugs Desflurane and Trandolapril have been mentioned in the context of this disorder. Affiliated tissues include heart, endothelial and kidney, and related phenotypes are bicuspid aortic valve and coarctation of aorta

OMIM®: 57 Aortic valve disease-2 (AOVD2) is characterized by bicuspid aortic valve (BAV) and dilation of the ascending aorta. Calcification of the valve and the aorta has been observed, and some patients exhibit coarctation of the aorta (Tan et al., 2012; Luyckx et al., 2019; Park et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of aortic valve disease, see AOVD1 (109730). (614823) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 A common defect in the aortic valve in which two rather than three leaflets are present. It is often associated with aortic valve calcification, stenosis and insufficiency. In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome.

Disease Ontology 11 Aortic valve disease 2: A bicuspid aortic valve disease that has material basis in heterozygous mutation in the SMAD6 gene on chromosome 15q22.

Aortic valve stenosis: An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening.

Wikipedia: 75 Aortic stenosis (AS or AoS) is the narrowing of the exit of the left ventricle of the heart (where the... more...

Related Diseases for Aortic Valve Disease 2

Diseases in the Aortic Valve Insufficiency family:

Aortic Valve Disease 1 Aortic Valve Disease 2
Aortic Valve Disease 3

Diseases related to Aortic Valve Disease 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 929)
# Related Disease Score Top Affiliating Genes
1 holt-oram syndrome 32.6 TBX5 NPPA MYH7
2 aortic aneurysm 32.3 SPP1 MIR29B1 MIR21 MIR195 MIR126 ELN
3 aortic valve disease 1 32.2 TBX5 SPP1 SMAD6 NPPB MIR423 MIR29B1
4 aortic aneurysm, familial thoracic 1 32.0 TBX5 SPP1 SMAD6 MYH7 MIR29B1 MIR21
5 heart septal defect 31.8 TBX5 NPPB NPPA MYH7 MIR423 MIR199A1
6 ventricular septal defect 31.8 TBX5 NPPB NPPA MIR423 MIR199A1
7 patent ductus arteriosus 1 31.6 TBX5 NPPB MYH7 ELN
8 orthostatic intolerance 31.6 TBX5 PDLIM1 MIR423 ELN
9 aortic disease 31.5 SPP1 NPPB MIR423 MIR34A MIR29B1 MIR21
10 mitral valve insufficiency 31.5 TBX5 NPPB NPPA MYH7 MIR423 ELN
11 endocardial fibroelastosis 31.5 NPPB MYH7 ELN
12 pulmonary hypertension 31.4 SPP1 NPPB NPPA MIR21 ELN BMP2
13 cardiogenic shock 31.3 NPPB NPPA
14 atrial heart septal defect 31.3 TBX5 NPPB NPPA MYH7 ELN
15 patent foramen ovale 31.3 TBX5 NPPB NPPA MYH7 ELN
16 transposition of the great arteries, dextro-looped 31.3 TBX5 NPPB MIR423 BMP2
17 hypoplastic left heart syndrome 31.2 TBX5 SMAD6 NPPB NPPA MYH7 ELN
18 tetralogy of fallot 31.2 TBX5 NPPB NPPA MYH7 MIR423 ELN
19 mitral valve disease 31.1 NPPB NPPA MYH7 MIR423 MIR21 ELN
20 connective tissue disease 31.1 TNFSF11 SPP1 MIR423 MIR34A MIR29B1 MIR21
21 hypertrophic cardiomyopathy 31.1 TBX5 NPPB NPPA MYL4 MYH7 MIR423
22 hypertension, essential 31.0 SPP1 NPPB NPPA MIR423 MIR34A MIR21
23 ebstein anomaly 31.0 TBX5 NPPB MYH7
24 hypertensive heart disease 31.0 NPPB NPPA MYH7
25 chronic kidney disease 30.9 TNFSF11 SPP1 NPPB NPPA MIR21 MIR126
26 peripheral artery disease 30.9 NPPB MIR423 MIR21 MIR199A1 MIR126
27 pulmonary disease, chronic obstructive 30.9 NPPB MIR21 MIR199A1 MIR126 ELN
28 heart valve disease 30.9 NPPB NPPA MYH7 MIR423 MIR34A MIR29B1
29 arteriosclerosis 30.9 SPP1 MIR21 MIR199A1 MIR126 ELN
30 cerebrovascular disease 30.8 MIR423 MIR29B1 MIR21 MIR199A1 MIR126
31 aortic aneurysm, familial abdominal, 1 30.8 SPP1 MIR21 MIR199A1 MIR195 MIR126 ELN
32 lipoprotein quantitative trait locus 30.8 TBX5 NPPB NPPA MYH7 MIR423 MIR34A
33 kidney disease 30.8 TNFSF11 SPP1 NPPB NPPA MIR21 MIR199A1
34 wolff-parkinson-white syndrome 30.8 TBX5 NPPB MYH7 BMP2
35 systolic heart failure 30.7 NPPB MYH7 MIR423
36 arteries, anomalies of 30.7 MIR423 MIR34A MIR29B1 MIR21 MIR199A1 MIR195
37 tricuspid valve disease 30.7 TBX5 NPPB MYH7
38 intermediate coronary syndrome 30.7 NPPB MIR423 MIR21 MIR126
39 lung disease 30.7 NPPB MIR21 MIR199A1 MIR126 ELN
40 dilated cardiomyopathy 30.7 TBX5 SPP1 NPPB NPPA MYL4 MYH7
41 atrial fibrillation 30.6 TBX5 NPPB NPPA MYL4 MIR21 MIR199A1
42 brittle bone disorder 30.6 TNFSF11 SPP1 ELN BMP2
43 arthropathy 30.6 TNFSF11 HGD BMP2
44 cardiovascular system disease 30.6 NPPB NPPA MIR423 MIR34A MIR29B1 MIR21
45 leukemia, chronic lymphocytic 30.6 MIR423 MIR34A MIR29B1 MIR21 MIR199A1 MIR195
46 heart disease 30.6 TBX5 SMAD6 NPPB NPPA MYL4 MYH7
47 myocarditis 30.5 SPP1 NPPB NPPA MYH7
48 respiratory failure 30.5 NPPB MYH7 MIR21 MIR199A1 MIR126
49 diabetes mellitus 30.5 TNFSF11 SPP1 NPPB NPPA MIR34A MIR21
50 myeloma, multiple 30.5 TNFSF11 SPP1 MIR21 MIR199A1 MIR126

Comorbidity relations with Aortic Valve Disease 2 via Phenotypic Disease Network (PDN):


Aortic Valve Disease 1 Familial Atrial Fibrillation
Heart Disease Intermediate Coronary Syndrome
Rheumatic Heart Disease

Graphical network of the top 20 diseases related to Aortic Valve Disease 2:



Diseases related to Aortic Valve Disease 2

Symptoms & Phenotypes for Aortic Valve Disease 2

Human phenotypes related to Aortic Valve Disease 2:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bicuspid aortic valve 30 HP:0001647
2 coarctation of aorta 30 HP:0001680
3 aortic aneurysm 30 HP:0004942
4 calcification of the aorta 30 HP:0004963

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Cardiovascular Heart:
bicuspid aortic valve
stenosis of aortic valve

Cardiovascular Vascular:
aortic aneurysm
calcification of the aorta
coarctation of the aorta

Clinical features from OMIM®:

614823 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Aortic Valve Disease 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.56 ELN MYH7 NPPA NPPB SMAD6 SPP1
2 homeostasis/metabolism MP:0005376 9.47 BMP2 CNMD ELN HGD MIR126 MIR34A

Drugs & Therapeutics for Aortic Valve Disease 2

Drugs for Aortic Valve Disease 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 267)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Desflurane Approved Phase 4 57041-67-5 42113
2
Trandolapril Approved Phase 4 87679-37-6 5484727
3
Captopril Approved Phase 4 62571-86-2 44093
4
Acetylcysteine Approved, Investigational Phase 4 616-91-1 581 12035
5
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
6
Remifentanil Approved Phase 4 132875-61-7 60815
7
Sodium citrate Approved, Investigational Phase 4 68-04-2 23431961
8
Sildenafil Approved, Investigational Phase 4 139755-83-2, 171599-83-0 5212 135398744
9
Amlodipine Approved Phase 4 88150-42-9 2162
10
Chlorthalidone Approved Phase 4 77-36-1 2732
11
Ticagrelor Approved Phase 4 274693-27-5 9871419
12
Dapagliflozin Approved Phase 4 461432-26-8 9887712
13
Phylloquinone Approved, Investigational Phase 4 84-80-0 5284607
14
Acenocoumarol Approved, Investigational Phase 4 152-72-7 54676537 9052
15
Phenprocoumon Approved, Investigational Phase 4 435-97-2 54680692 9908
16
Dabigatran Approved, Investigational Phase 4 211914-51-1 216210
17
Iron isomaltoside 1000 Approved, Investigational Phase 4 1370654-58-2
18
Mecobalamin Approved, Investigational Phase 4 13422-55-4
19
Hydroxocobalamin Approved Phase 4 13422-51-0 15589840 44475014
20
Iron Approved Phase 4 7439-89-6 29936
21
Dobutamine Approved Phase 4 34368-04-2 36811
22
Atorvastatin Approved Phase 4 134523-00-5 60823
23
Heparin, bovine Approved, Investigational, Withdrawn Phase 4 9005-49-6 22833565 9812414 772
24
Bisoprolol Approved Phase 4 66722-44-9 2405
25
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
26
Glutamic acid Approved, Nutraceutical Phase 4 56-86-0 33032
27
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
28
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
29
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 24892734 16212801 44176380
30 Menaquinone Investigational Phase 4 1182-68-9
31
Simendan Investigational Phase 4 131741-08-7
32
Cobalamin Experimental Phase 4 13408-78-1 6857388
33 Anesthetics, Inhalation Phase 4
34 Angiotensin-Converting Enzyme Inhibitors Phase 4
35 Hormones Phase 4
36 Coagulants Phase 4
37 N-monoacetylcystine Phase 4
38 Anesthetics, General Phase 4
39 Dsuvia Phase 4
40 Anesthetics, Intravenous Phase 4
41 Analgesics, Opioid Phase 4
42 Narcotics Phase 4
43 Arginine Vasopressin Phase 4
44 Vasopressins Phase 4
45 Deamino Arginine Vasopressin Phase 4
46 diuretics Phase 4
47 Citrate Phase 4
48 calcium channel blockers Phase 4
49 Sodium Chloride Symporter Inhibitors Phase 4
50 Sodium-Glucose Transporter 2 Inhibitors Phase 4

Interventional clinical trials:

(show top 50) (show all 770)
# Name Status NCT ID Phase Drugs
1 Frailty and Cognitive Function Assessment of TAVI Patients (The Hungarian Frailty Score) - Observational, Prospective, Singe Center Study Unknown status NCT02650388 Phase 4
2 Desflurane-induced Myocardial Protection in Aortic Valve Surgery: A Pilot Study Unknown status NCT02019797 Phase 4 Desflurane
3 Comparison of Safety and Efficacy of Percutaneous Balloon Aortic Valvuloplasty Performed With or Without Rapid Ventricular Pacing - The Pacing vs No Pacing Study (PNP Study) Unknown status NCT02498639 Phase 4
4 Effects of the Administration Of Antithrombin on the Coagulation Status and on the Inflammatory Response in Patients With Low Plasmatic Levels of Antithrombin After Cardiac Surgery Unknown status NCT01201070 Phase 4 antithrombin III
5 Endothelial Progenitors in Aortic Stenosis: Association With Aortic Stenosis Progression, Severity, Symptoms and Left Ventricular Function Assessed by 2D Strain Echocardiography Unknown status NCT02060071 Phase 4
6 Randomized Trial of Aspirin Versus Rivaroxaban After Replacement of the Aortic Valve With a Biological Valve Prosthesis Unknown status NCT02974920 Phase 4 Rivaroxaban 10 MG;Aspirin
7 Acute Haemodynamic Effects of Treatment With ACE-Inhibitors in Patients With Symptomatic Aortic Stenosis (ACCESS) Unknown status NCT00252317 Phase 4 Captopril and Trandolapril;Captopril Test Dose and Trandolapril
8 Safety and Efficacy of Angiotensin Receptor Blocker, Fimasartan, on Patients With Aortic Stenosis Unknown status NCT01589380 Phase 4 Fimasartan;Placebo
9 Reducing Acute Kidney Injury in TAVI Patients (REDUCE Trial) Completed NCT01866800 Phase 4 Conventional Treatment
10 Use of Protamine Sulfate During Transcatheter Aortic Valve Implantation - Impact on Bleeding and Thromboembolic Complications Completed NCT02974660 Phase 4 Protamine sulfate;0.9% NaCl
11 Aortic Valve Replacement Using Closed Extracorporeal Circuit. Minimized Versus Conventional Extracorporeal Circulation Technique: Qualitative Differences Completed NCT02308566 Phase 4
12 Randomized Control Study of Anticoagulation With Warfarin Por Patients With Aortic Bioprosthesis vs Aspirin Only Completed NCT03807921 Phase 4 Warfarin;Aspirin
13 a Multicenter, Randomized, Open-label, Active-treatment, Controlled Trial to Compare the Efficacy of NOAC With Edoxaban vs. Dual Antiplatelet Therapy (DAPT) for Prevention of Leaflet Thrombosis (Documented by Cardiac CT Imaging) and Cerebral Embolization (Documented With Brain DW-MRI Imaging) in Patients Without an Absolute Indication for Chronic OAC After Successful TAVR Completed NCT03284827 Phase 4 NOAC;DAPT
14 PHASE IV Study of Dual Antiplatelet Therapy Versus Oral Anticoagulation for a Short Time to Prevent Cerebral Embolism After Percutaneous Aortic Valve Implantation. Multicenter Randomized Clinical Trial Completed NCT01642134 Phase 4 aspirin+clopidogrel (Duoplavin)
15 Left Ventricular Regression European Study Completed NCT00256165 Phase 4
16 Assessment of Platelet REACtivity After Transcatheter Aortic Valve Implantation Completed NCT02224066 Phase 4 Ticagrelor 90 mg twice per day during three months following TAVI;Aspirin 100 mg plus Clopidogrel 75 mg daily during three months following TAVI
17 REACTIC-TAVI Trial: Platelet REACtivity According to TICagrelor Dose After Transcatheter AorticValve Implantation. A Pilot Study. Completed NCT04331145 Phase 4 Ticagrelor 60mg
18 Fast-track in Cardiac Surgery. Remifentanyl & Sufentanil Anaesthesia for CABG+/-AVR Evaluated by Recovery, Cognitive Dysfunction, Haemodynamics (PAC/TTE) and Cardiac Biochemical Markers (CKMB, TNT, Pro-BNP) Completed NCT02053818 Phase 4 Remifentanil;Sufentanil
19 Severe Aortic Stenosis and Acquired Von Willebrand´s Disease: The Impact of Desmopressin in Valve-Replacement Surgery Completed NCT01994330 Phase 4 desmopressin
20 Glutamate Infusion in Hypertrophied Ventricle After Aortic Valve Replacement - a Randomized Trial Completed NCT01144039 Phase 4 LG-group;HG-group;Placebo-group
21 Acute Hemodynamic Effects of Sildenafil in Patients With Severe Aortic Stenosis Completed NCT01060020 Phase 4 Sildenafil
22 A Prospective, Multicentre, Randomized, Open Label, Evaluator-Blind, Phase IV Study to Evaluate the Effect on Improvement of Left Ventricular Hypertrophy by the Control of Blood Pressure in Hypertension Patients With Aortic Valve Disease Completed NCT03666351 Phase 4 Amlodipine 5mg;Losartan;Losartan and Amlodipine;Amlodipine/Losartan/Chlorthalidone;current treatment
23 Inflammation and Thrombosis in Patients With Severe Aortic Stenosis After Transcatheter Aortic Valve Replacement (TAVR) Completed NCT02486367 Phase 4 Clopidogrel;Ticagrelor
24 Single Antiplatelet Treatment With Ticagrelor or Aspirin After Transcatheter Aortic Valve Implantation: Multicenter Randomized Clinical Trial Recruiting NCT05283356 Phase 4 Ticagrelor 60mg
25 A Double-Blind, Randomized, Placebo-Controlled Study to Evaluate the Effectiveness and Safety of Levosimendan in Patients With Severe Aortic Stenosis and Heart Failure Undergoing Transcatheter Aortic Valve Replacement Recruiting NCT04573049 Phase 4 Levosimendan
26 A Phase IV Double-blind, Randomised, Parallel Group Comparison of the Efficacy and Safety of Preoperative Intravenous Ferric Carboxymaltose and Placebo in the Treatment of Patients Undergoing Elective or Urgent Cardiac Surgery Recruiting NCT03574311 Phase 4 Ferric carboxymaltose
27 Periprocedural Continuation Versus Interruption of Oral Anticoagulant Drugs During Transcatheter Aortic Valve Implantation (POPular PAUSE TAVI) Recruiting NCT04437303 Phase 4 Continuation of oral anticoagulants;Interruption of oral anticoagulants
28 Effect of Preoperative Iron Isomaltoside 1000 Administration on Hemoglobin Concentration in Patients Undergoing Transcatheter Aortic Valve Implantation: a Randomized Clinical Trial Recruiting NCT04346004 Phase 4 Normal saline;Iron isomaltoside
29 Dapagliflozin After Transcatheter Aortic Valve Implantation Recruiting NCT04696185 Phase 4 Dapagliflozin 10 MG
30 Impact of Angiotensin Receptor Blockers in Aortic Stenosis - a Randomized Controlled Trial Recruiting NCT04913870 Phase 4 Angiotensin Receptor Blockers
31 Randomized Bilnded Controlled Trial Comparing The Effect of IV Sodium Ferric Gluconate Complex (FERRLECIT R) on Outcome of Patients Undergoing Transcatheter Aortic Valve Implantation (TAVI) Recruiting NCT04797832 Phase 4 IV Sodium Ferric Gluconate Complex
32 THE TORCH TRIAL:Transcatheter Aortic Valve Replacement Single Center Registry in Chinese Population Recruiting NCT02803294 Phase 4
33 A Randomized Clinical Trial of Intravenous Iron Supplementation in TAVI and SAVR Patients With Iron Deficiency Not yet recruiting NCT04786769 Phase 4 Ferric carboxymaltose
34 An Open-label, Randomized Study of Inhibitory Effect of Evogliptin, the Dipeptidyl Peptidase-4 Inhibitor, on the Progression of Aortic Valve Calcification in Patients With Type 2 Diabetes Mellitus and Mild-to-moderate Aortic Stenosis Not yet recruiting NCT04521452 Phase 4 Evogliptin
35 The Effects of Dobutamine on Postoperative Systolic Deformation and Diastolic Function in Patients With Hypertrophic Cardiomyopathy Operated for Aortic Valve Stenosis Suspended NCT01375335 Phase 4 Dobutamine
36 Double Blind Randomized Phase IV Clinical Trial to Evaluate the Efficacy of Fluvastatin on Inflammatory Markers in the Haemodynamic Progression of Degenerative Aortic Stenosis. The AORTICA 1 Study. Terminated NCT00404287 Phase 4 Fluvastatin
37 The Effect of Statin Therapy (Atorvastatin) on the Progression of Calcific Valvular Aortic Stenosis Terminated NCT00590135 Phase 4 atorvastatin (Lipitor)
38 A Randomized Trial of Beta-blocker Therapy in Aortic Stenosis Terminated NCT01579058 Phase 4 bisoprolol;placebo
39 Balloon Aortic Valvuloplasty Performed Without Heparin to Decrease Vascular and Bleeding Complications of the Procedure Terminated NCT01823393 Phase 4 Heparin;NaCl
40 Aortic Stenosis and PhosphodiEsterase iNhibition With Aortic Valve Replacement (ASPEN-AVR): A Pilot Study Terminated NCT01272388 Phase 4 Tadalafil;Placebo
41 Aortic Stenosis and PhosphodiEsterase Type 5 iNhibition (ASPEN): A Pilot Study Terminated NCT01275339 Phase 4 Tadalafil;Placebo
42 Prospective, Open Label, Multicenter, Dual Arm, Randomized Trial of TRANscatheter or SurgIcal Aortic Valve ReplacemenT in All-Comers With Severe Aortic Valve Stenosis Withdrawn NCT02838199 Phase 4
43 Interest of Statin in Surgical Aortic Stenosis: From Myocardial Preconditioning to Ventricular Reverse Remodeling. Unknown status NCT00811330 Phase 3 Atorvastatin 80 mg
44 The Potential of Candesartan to Retard the Progression of Aortic Stenosis Influences of Medical Therapy to the Atheroinflammatory Process in Stenotic Aortic Valves Unknown status NCT00699452 Phase 3 candesartan;placebo
45 Dual AntiPlatelet Therapies for Prevention of Periinterventional Embolic Events in Transcatheter Aortic Valve Implantation (TAVI) Unknown status NCT03001960 Phase 3 Preloading before TAVI;Postloading after TAVI
46 LOTUS-CHINA: Safety and Efficacy of Lotus Valve For Transcatheter Aortic Valve Implantation In Patients With Severe Aortic Stenosis In Chinese Population Unknown status NCT02536703 Phase 3
47 Left Ventricular Reverse Remodelling After Aortic Valve Replacement in Severe Valvular Aortic Stenosis - Effect of Blockade of the Angiotensin-II Receptor Unknown status NCT00294775 Phase 3 Candesartan
48 Value of Oral Phytate (InsP6) in the Prevention of Progression of the Cardiovascular Calcifications Unknown status NCT01000233 Phase 2, Phase 3
49 A Prospective, Multicentre, Randomized, Open Label, Blinded Endpoint, Phase 3 Trial to Assess the Safety and Efficacy of Prophylactic TicagrelOr With Acetylsalicylic Acid Versus CLopidogrel With Acetylsalicylic Acid in the Development of Cerebrovascular EMbolic Events During Transcatheter Aortic Valve Implantation (TAVI) OperationS - the PTOLEMAIOS Study. Completed NCT02989558 Phase 3 Ticagrelor plus ASA;Clopidogrel plus ASA
50 Safety Profile Evaluation of TICagrelor Alone Compared to a Combination of Lysine Acetylsalicylate-Clopidogrel in the Context of Transcatheter Aortic Valve Implantation (TAVI) Completed NCT02817789 Phase 3 Ticagrelor alone;Combination lysine acetylsalicylate - clopidogrel

Search NIH Clinical Center for Aortic Valve Disease 2

Cochrane evidence based reviews: aortic valve stenosis

Genetic Tests for Aortic Valve Disease 2

Genetic tests related to Aortic Valve Disease 2:

# Genetic test Affiliating Genes
1 Aortic Valve Disease 2 28 SMAD6

Anatomical Context for Aortic Valve Disease 2

Organs/tissues related to Aortic Valve Disease 2:

MalaCards : Heart, Endothelial, Kidney, Brain, Lung, Myeloid, Smooth Muscle
ODiseA: Heart-Atrium, Heart-Ventricle, Heart

Publications for Aortic Valve Disease 2

Articles related to Aortic Valve Disease 2:

(show top 50) (show all 25800)
# Title Authors PMID Year
1
Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy. 62 57 5
30796334 2019
2
A novel SMAD6 variant in a patient with severely calcified bicuspid aortic valve and thoracic aortic aneurysm. 62 57 5
30848080 2019
3
Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation. 57 5
22275001 2012
4
Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants. 5
30552424 2019
5
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. 5
25640679 2015
6
Identification of TBX5 mutations in a series of 94 patients with Tetralogy of Fallot. 5
25263169 2014
7
Holt-Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: functional characterization of a de novo TBX5 mutation. 5
24664498 2014
8
Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome. 5
20519243 2010
9
Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome. 5
21637475 2010
10
Functional role of transcriptional factor TBX5 in pre-mRNA splicing and Holt-Oram syndrome via association with SC35. 5
19648116 2009
11
Novel TBX5 mutations in patients with Holt-Oram syndrome. 5
17534187 2007
12
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. 5
17576681 2007
13
Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations. 5
16917909 2006
14
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. 5
16183809 2005
15
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
16
Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype. 5
12789647 2003
17
Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome. 5
12499378 2003
18
Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome. 5
11555635 2001
19
Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. 5
10077612 1999
20
Statistical features of human exons and their flanking regions. 5
9536098 1998
21
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. 5
8988164 1997
22
Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. 5
8988165 1997
23
Alpha 1 antitrypsin deficiency alleles are associated with joint dislocation and scoliosis in Williams syndrome. 53 62
20425789 2010
24
Treadmill exercise in apparently asymptomatic patients with moderate or severe aortic stenosis: relationship between cardiac index and revealed symptoms. 53 62
20424150 2010
25
Heart failure-associated changes in RNA splicing of sarcomere genes. 53 62
20124440 2010
26
B-type natriuretic peptide and tissue doppler for predicting symptoms on treadmill exercise in apparently asymptomatic aortic stenosis. 53 62
20099699 2009
27
Effect of balloon valvuloplasty in patients with severe aortic stenosis on levels of N-terminal pro-B-type natriuretic peptide. 53 62
19733722 2009
28
New understanding about brain natriuretic peptide and exercise testing in asymptomatic severe aortic stenosis. 53 62
20099698 2009
29
Correlation between plasma osteopontin levels and aortic valve calcification: potential insights into the pathogenesis of aortic valve calcification and stenosis. 53 62
19577079 2009
30
Usefulness of serial brain natriuretic peptide measurements for managing aortic valve stenosis in pregnancy. 53 62
19633743 2009
31
Natriuretic peptides in the management of aortic stenosis. 53 62
19236823 2009
32
Molecular mechanisms underlying the onset of degenerative aortic valve disease. 53 62
18766323 2009
33
Brain natriuretic peptide as a marker of left ventricular hypertrophy in patients with aortic stenosis. 53 62
19137789 2008
34
Induction by left ventricular overload and left ventricular failure of the human Jumonji gene (JARID2) encoding a protein that regulates transcription and reexpression of a protective fetal program. 53 62
18805276 2008
35
Comparison of brain natriuretic peptide plasma levels versus logistic EuroSCORE in predicting in-hospital and late postoperative mortality in patients undergoing aortic valve replacement for symptomatic aortic stenosis. 53 62
18774001 2008
36
Heart failure in patients with aortic stenosis: clinical and prognostic significance of carbohydrate antigen 125 and brain natriuretic peptide measurement. 53 62
17662495 2008
37
Increased B-type natriuretic peptide is associated with an abnormal blood pressure response to exercise in asymptomatic aortic stenosis. 53 62
18077013 2008
38
Diagnosis and management of medical problems in adults with Williams-Beuren syndrome. 53 62
17639596 2007
39
Natriuretic peptides and myocardial oxygen supply-to-demand ratio in patients with aortic stenosis. 53 62
17537153 2007
40
Longitudinal left ventricular contractile dysfunction after exercise in aortic stenosis. 53 62
17090563 2007
41
B-type natriuretic peptide in low-flow, low-gradient aortic stenosis: relationship to hemodynamics and clinical outcome: results from the Multicenter Truly or Pseudo-Severe Aortic Stenosis (TOPAS) study. 53 62
17515464 2007
42
Increased circulating concentrations and augmented myocardial extraction of osteoprotegerin in heart failure due to left ventricular pressure overload. 53 62
17254844 2007
43
Fetal aortic stenosis and changes in amniotic fluid natriuretic peptides. 53 62
17346543 2007
44
Distribution of SPARC during neovascularisation of degenerative aortic stenosis. 53 62
16709694 2006
45
[Gene polymorphisms leading to calcified and stenotic aortic valves]. 53 62
17072776 2006
46
The effect of aortic valve replacement on plasma B-type natriuretic peptide in patients with severe aortic stenosis--one year follow-up. 53 62
16466963 2006
47
Atrial natriuretic peptide predicts impaired atrial remodeling and occurrence of late postoperative atrial fibrillation after surgery for symptomatic aortic stenosis. 53 62
16498244 2006
48
Transcardiac gradients of N-terminal B-type natriuretic peptide in aortic valve stenosis. 53 62
16087135 2005
49
Brain natriuretic peptide release in cardiac surgery patients. 53 62
15926091 2005
50
Relation of N-terminal pro B-type natriuretic peptide to progression of aortic valve disease. 53 62
15781428 2005

Variations for Aortic Valve Disease 2

ClinVar genetic disease variations for Aortic Valve Disease 2:

5 (show top 50) (show all 478)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMAD6 NM_005585.5(SMAD6):c.1451G>T (p.Cys484Phe) SNV Pathogenic
37111 rs387907283 GRCh37: 15:67073833-67073833
GRCh38: 15:66781495-66781495
2 SMAD6 NM_005585.5(SMAD6):c.1168_1173dup (p.Gly390_Ile391dup) DUP Pathogenic
635569 rs1595804976 GRCh37: 15:67073547-67073548
GRCh38: 15:66781209-66781210
3 TBX5 NM_181486.4(TBX5):c.239G>A (p.Gly80Glu) SNV Pathogenic
861408 rs1871830806 GRCh37: 12:114839634-114839634
GRCh38: 12:114401829-114401829
4 TBX5 NM_181486.4(TBX5):c.813_814del (p.His271fs) MICROSAT Pathogenic
957169 rs1869539814 GRCh37: 12:114804138-114804139
GRCh38: 12:114366333-114366334
5 TBX5 NM_181486.4(TBX5):c.238_239delinsT (p.Ala79_Gly80insTer) INDEL Pathogenic
964855 rs1871830996 GRCh37: 12:114839634-114839635
GRCh38: 12:114401829-114401830
6 TBX5 NM_181486.4(TBX5):c.1115_1116delinsAGGCGCTCCTACA (p.Ser372Ter) INDEL Pathogenic
968329 rs1593836748 GRCh37: 12:114793778-114793779
GRCh38: 12:114355973-114355974
7 TBX5 NM_181486.4(TBX5):c.982+1G>A SNV Pathogenic
1409261 GRCh37: 12:114803969-114803969
GRCh38: 12:114366164-114366164
8 TBX5 NC_000012.12:g.(?_114401806)_(114401940_?)del DEL Pathogenic
652398 GRCh37: 12:114839611-114839745
GRCh38: 12:114401806-114401940
9 TBX5 NM_181486.4(TBX5):c.1012del (p.Tyr338fs) DEL Pathogenic
1454149 GRCh37: 12:114793882-114793882
GRCh38: 12:114356077-114356077
10 TBX5 NM_181486.4(TBX5):c.691C>T (p.Pro231Ser) SNV Pathogenic
1433880 GRCh37: 12:114823345-114823345
GRCh38: 12:114385540-114385540
11 TBX5 NM_181486.4(TBX5):c.798del (p.Val267fs) DEL Pathogenic
1455873 GRCh37: 12:114804154-114804154
GRCh38: 12:114366349-114366349
12 TBX5 NC_000012.11:g.(?_114823261)_(114823392_?)del DEL Pathogenic
1457204 GRCh37: 12:114823261-114823392
GRCh38:
13 TBX5 NC_000012.11:g.(?_114837390)_(114846189_?)del DEL Pathogenic
1459610 GRCh37: 12:114837390-114846189
GRCh38:
14 TBX5 NM_181486.4(TBX5):c.400del (p.Arg134fs) DEL Pathogenic
1453432 GRCh37: 12:114836488-114836488
GRCh38: 12:114398683-114398683
15 TBX5 NM_181486.4(TBX5):c.760G>T (p.Glu254Ter) SNV Pathogenic
1350538 GRCh37: 12:114804192-114804192
GRCh38: 12:114366387-114366387
16 TBX5 NM_181486.4(TBX5):c.958del (p.Ile320fs) DEL Pathogenic
237218 rs878853750 GRCh37: 12:114803994-114803994
GRCh38: 12:114366189-114366189
17 TBX5 NM_181486.4(TBX5):c.443G>A (p.Trp148Ter) SNV Pathogenic
411100 rs1060503154 GRCh37: 12:114836445-114836445
GRCh38: 12:114398640-114398640
18 TBX5 NM_181486.4(TBX5):c.154G>T (p.Glu52Ter) SNV Pathogenic
835086 rs1208004863 GRCh37: 12:114839719-114839719
GRCh38: 12:114401914-114401914
19 TBX5 NM_181486.4(TBX5):c.69del (p.Cys24fs) DEL Pathogenic
857821 rs1872004016 GRCh37: 12:114841635-114841635
GRCh38: 12:114403830-114403830
20 TBX5 NM_181486.4(TBX5):c.246del (p.Met83fs) DEL Pathogenic
862164 rs1871673161 GRCh37: 12:114837434-114837434
GRCh38: 12:114399629-114399629
21 TBX5 NM_181486.4(TBX5):c.593del (p.Asn198fs) DEL Pathogenic
944045 rs1565939215 GRCh37: 12:114832616-114832616
GRCh38: 12:114394811-114394811
22 TBX5 NM_181486.4(TBX5):c.383_386dup (p.Met131fs) DUP Pathogenic
1071824 GRCh37: 12:114836501-114836502
GRCh38: 12:114398696-114398697
23 TBX5 NM_181486.4(TBX5):c.142C>T (p.Gln48Ter) SNV Pathogenic
213820 rs863223777 GRCh37: 12:114841562-114841562
GRCh38: 12:114403757-114403757
24 TBX5 NM_181486.4(TBX5):c.278dup (p.Leu94fs) DUP Pathogenic
411102 rs1555226420 GRCh37: 12:114837401-114837402
GRCh38: 12:114399596-114399597
25 TBX5 NM_181486.4(TBX5):c.629_632dup (p.Ile212fs) DUP Pathogenic
477658 rs1555225989 GRCh37: 12:114832576-114832577
GRCh38: 12:114394771-114394772
26 TBX5 NM_181486.4(TBX5):c.432dup (p.Gly145fs) DUP Pathogenic
543961 rs1555226322 GRCh37: 12:114836455-114836456
GRCh38: 12:114398650-114398651
27 TBX5 NM_181486.4(TBX5):c.595dup (p.Thr199fs) DUP Pathogenic
543962 rs1555226005 GRCh37: 12:114832613-114832614
GRCh38: 12:114394808-114394809
28 TBX5 NM_181486.4(TBX5):c.868C>T (p.Gln290Ter) SNV Pathogenic
569967 rs1565927747 GRCh37: 12:114804084-114804084
GRCh38: 12:114366279-114366279
29 TBX5 NM_181486.4(TBX5):c.390del (p.Met131fs) DEL Pathogenic
577533 rs1565941046 GRCh37: 12:114836498-114836498
GRCh38: 12:114398693-114398693
30 TBX5 NM_181486.4(TBX5):c.163_172del (p.Lys55fs) DEL Pathogenic
656872 rs1593883930 GRCh37: 12:114839701-114839710
GRCh38: 12:114401896-114401905
31 TBX5 NC_000012.12:g.(?_114401816)_(114401930_?)del DEL Pathogenic
661191 GRCh37: 12:114839621-114839735
GRCh38: 12:114401816-114401930
32 TBX5 NM_181486.4(TBX5):c.765T>A (p.Tyr255Ter) SNV Pathogenic
1072954 GRCh37: 12:114804187-114804187
GRCh38: 12:114366382-114366382
33 TBX5 NM_181486.4(TBX5):c.456del (p.Val153fs) DEL Pathogenic
377113 rs1057520136 GRCh37: 12:114836432-114836432
GRCh38: 12:114398627-114398627
34 TBX5 NC_000012.11:g.(?_114793317)_(114841723_?)del DEL Pathogenic
477653 GRCh37: 12:114793317-114841723
GRCh38:
35 TBX5 NM_181486.4(TBX5):c.587C>A (p.Ser196Ter) SNV Pathogenic
279906 rs886041247 GRCh37: 12:114832622-114832622
GRCh38: 12:114394817-114394817
36 TBX5 NM_181486.4(TBX5):c.668C>T (p.Thr223Met) SNV Pathogenic
449105 rs1555225344 GRCh37: 12:114823368-114823368
GRCh38: 12:114385563-114385563
37 TBX5 NM_181486.4(TBX5):c.1104C>G (p.Tyr368Ter) SNV Pathogenic
567672 rs1565923835 GRCh37: 12:114793790-114793790
GRCh38: 12:114355985-114355985
38 TBX5 NM_181486.4(TBX5):c.926_927del (p.Asn309fs) DEL Pathogenic
659191 rs1593847163 GRCh37: 12:114804025-114804026
GRCh38: 12:114366220-114366221
39 TBX5 NM_181486.4(TBX5):c.362+2T>C SNV Pathogenic
665547 rs1593881162 GRCh37: 12:114837316-114837316
GRCh38: 12:114399511-114399511
40 TBX5 NM_181486.4(TBX5):c.593dup (p.Asn198fs) DUP Pathogenic
633726 GRCh37: 12:114832615-114832616
GRCh38: 12:114394810-114394811
41 TBX5 NM_181486.4(TBX5):c.243-2A>G SNV Pathogenic
1071999 GRCh37: 12:114837439-114837439
GRCh38: 12:114399634-114399634
42 TBX5 NM_181486.4(TBX5):c.341dup (p.Tyr114Ter) DUP Pathogenic
1075045 GRCh37: 12:114837338-114837339
GRCh38: 12:114399533-114399534
43 TBX5 NC_000012.11:g.(?_114793327)_(114793921_?)del DEL Pathogenic
1076612 GRCh37: 12:114793327-114793921
GRCh38:
44 TBX5 NC_000012.12:g.(?_114394721)_(114394913_?)del DEL Pathogenic
831407 GRCh37: 12:114832526-114832718
GRCh38:
45 TBX5 NM_181486.4(TBX5):c.727del (p.Glu243fs) DEL Pathogenic
846539 rs1870762150 GRCh37: 12:114823309-114823309
GRCh38: 12:114385504-114385504
46 TBX5 NM_181486.4(TBX5):c.663+1G>A SNV Pathogenic
849438 rs1871328488 GRCh37: 12:114832545-114832545
GRCh38: 12:114394740-114394740
47 TBX5 NM_181486.4(TBX5):c.252T>A (p.Phe84Leu) SNV Pathogenic
1062314 GRCh37: 12:114837428-114837428
GRCh38: 12:114399623-114399623
48 TBX5 NM_181486.4(TBX5):c.1037C>A (p.Ser346Ter) SNV Pathogenic
1454646 GRCh37: 12:114793857-114793857
GRCh38: 12:114356052-114356052
49 TBX5 NM_181486.4(TBX5):c.982+2T>G SNV Pathogenic
1455790 GRCh37: 12:114803968-114803968
GRCh38: 12:114366163-114366163
50 SMAD6 NM_005585.5(SMAD6):c.794del (p.His265fs) DEL Pathogenic
590964 rs1567092071 GRCh37: 15:66996390-66996390
GRCh38: 15:66704052-66704052

UniProtKB/Swiss-Prot genetic disease variations for Aortic Valve Disease 2:

73
# Symbol AA change Variation ID SNP ID
1 SMAD6 p.Pro415Leu VAR_068075 rs387907284
2 SMAD6 p.Cys484Phe VAR_068076 rs387907283

Expression for Aortic Valve Disease 2

Search GEO for disease gene expression data for Aortic Valve Disease 2.

Pathways for Aortic Valve Disease 2

GO Terms for Aortic Valve Disease 2

Cellular components related to Aortic Valve Disease 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 10.03 TNFSF11 SPP1 NPPB NPPA MIR423 MIR29B1
2 RISC complex GO:0016442 9.73 MIR423 MIR29B1 MIR21 MIR199A1 MIR195 MIR126
3 extracellular vesicle GO:1903561 8.92 MIR34A MIR29B1 MIR21 MIR126

Biological processes related to Aortic Valve Disease 2 according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell population proliferation GO:0008285 10.13 TBX5 SMAD6 MIR29B1 MIR21 MIR195 BMP2
2 miRNA-mediated gene silencing GO:0035195 10.03 MIR423 MIR34A MIR29B1 MIR21 MIR199A1 MIR195
3 negative regulation of gene expression GO:0010629 10 MIR34A MIR29B1 MIR21 MIR199A1 BMP2
4 proteoglycan metabolic process GO:0006029 9.89 CNMD BMP2
5 positive regulation of protein kinase B signaling GO:0051897 9.89 MIR126 MIR199A1 MIR21 TNFSF11
6 pericardium development GO:0060039 9.88 TBX5 BMP2
7 negative regulation of angiogenesis GO:0016525 9.88 CNMD MIR21 MIR34A NPPB
8 positive regulation of fat cell differentiation GO:0045600 9.85 BMP2 MIR21 MIR29B1
9 aortic valve morphogenesis GO:0003180 9.85 SMAD6 NPPA ELN
10 regulation of calcium ion transmembrane transport via high voltage-gated calcium channel GO:1902514 9.74 NPPA MIR21
11 miRNA-mediated gene silencing by inhibition of translation GO:0035278 9.73 MIR29B1 MIR21 MIR126
12 negative regulation of cell migration GO:0030336 9.63 TBX5 MIR34A MIR29B1 MIR21 MIR126
13 cell growth involved in cardiac muscle cell development GO:0061049 9.58 MIR199A1 MIR195
14 negative regulation of oxidative stress-induced cell death GO:1903202 9.54 MIR195 MIR29B1
15 positive regulation of metalloendopeptidase activity GO:1904685 9.51 MIR29B1 MIR21
16 positive regulation of potassium ion export across plasma membrane GO:1903766 9.5 NPPA MIR21
17 negative regulation of metallopeptidase activity GO:1905049 9.46 MIR29B1 MIR199A1
18 negative regulation of matrix metallopeptidase secretion GO:1904465 9.43 MIR29B1 MIR199A1
19 negative regulation of vascular endothelial growth factor production GO:1904046 9.13 MIR34A MIR199A1 MIR195
20 positive regulation of connective tissue replacement GO:1905205 8.8 MIR34A MIR199A1 MIR195

Molecular functions related to Aortic Valve Disease 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone receptor binding GO:0051427 9.46 NPPB NPPA
2 mRNA 3'-UTR binding GO:0003730 9.43 MIR34A MIR29B1 MIR21 MIR199A1 MIR195 MIR126
3 mRNA base-pairing translational repressor activity GO:1903231 9.17 MIR423 MIR34A MIR29B1 MIR21 MIR199A1 MIR195

Sources for Aortic Valve Disease 2

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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