AOVD2
MCID: ART101
MIFTS: 65

Aortic Valve Disease 2 (AOVD2)

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Aortic Valve Disease 2

MalaCards integrated aliases for Aortic Valve Disease 2:

Name: Aortic Valve Disease 2 56 12 73 29 13 6 71
Aortic Valve Stenosis 56 12 74 52 73 43 15 71
Aortic Stenosis 12 52 54 15 39 17
Rheumatic Aortic Stenosis 12 71 32
Bicuspid Aortic Valve 56 73
Aovd2 56 73
Rheumatic Aortic Valve Stenosis 12
Aortic Valve Disease, Type 2 39
Valvular Aortic Stenosis 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
aortic valve disease 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080334 DOID:1712
OMIM 56 614823
OMIM Phenotypic Series 56 PS109730
ICD9CM 34 395.0 746.3
MeSH 43 D001024
NCIt 49 C50462
MedGen 41 C3542024
UMLS 71 C0003507 C0152417 C0155567 more

Summaries for Aortic Valve Disease 2

NIH Rare Diseases : 52 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.

MalaCards based summary : Aortic Valve Disease 2, also known as aortic valve stenosis, is related to aortic aneurysm and aortic valve disease 1. An important gene associated with Aortic Valve Disease 2 is SMAD6 (SMAD Family Member 6), and among its related pathways/superpathways are cGMP-PKG signaling pathway and Human Embryonic Stem Cell Pluripotency. The drugs Trandolapril and Captopril have been mentioned in the context of this disorder. Affiliated tissues include heart, endothelial and brain, and related phenotypes are bicuspid aortic valve and coarctation of aorta

Disease Ontology : 12 An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening.

OMIM : 56 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)

UniProtKB/Swiss-Prot : 73 Aortic valve disease 2: 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.

Wikipedia : 74 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 694)
# Related Disease Score Top Affiliating Genes
1 aortic aneurysm 32.6 MIR29B1 MIR21 MIR195 ELN
2 aortic valve disease 1 32.5 TBX5 SPP1 SMAD6 MIR424 MIR29B1 MIR21
3 aortic aneurysm, familial thoracic 1 32.3 SMAD6 MIR424 ELN
4 heart septal defect 32.1 TBX5 NPPA MIR423 MIR199A1 ELN
5 ventricular septal defect 32.0 TBX5 NPPB NPPA MYH7
6 aortic disease 31.9 MIR424 MIR29B1 MIR21 MIR199A1 MIR195 MIR126
7 atrioventricular block 31.9 TBX5 NPPB MYH7
8 patent ductus arteriosus 1 31.8 TBX5 NPPB ELN
9 orthostatic intolerance 31.8 PDLIM1 MIR423 MIR29B1 ELN
10 mitral valve insufficiency 31.7 TBX5 PDLIM1 NPPB NPPA MIR423 ELN
11 mitral valve disease 31.6 NPPB NPPA MIR423 ELN
12 atrial heart septal defect 31.5 TBX5 NPPB NPPA MYH7 ELN
13 atrial standstill 1 31.5 NPPB NPPA MYH7
14 rheumatic heart disease 31.5 NPPB ELN CNMD
15 hypoplastic left heart syndrome 31.5 TBX5 SMAD6 NPPB NPPA ELN
16 vascular disease 31.4 TNFRSF11B SPP1 NPPB MIR21 MIR199A1 MIR126
17 tetralogy of fallot 31.3 TBX5 NPPB NPPA ELN
18 acute myocardial infarction 31.3 NPPB NPPA MYL4 MIR423 MIR21 MIR126
19 dilated cardiomyopathy 31.2 TBX5 SPP1 NPPB NPPA MYH7 MIR199A1
20 cerebrovascular disease 31.1 SPP1 NPPB NPPA MIR21 MIR199A1
21 arteriosclerosis 31.0 SPP1 MIR21 MIR126 ELN
22 heart valve disease 31.0 PDLIM1 NPPB NPPA MIR424 MIR423 MIR29B1
23 lipoprotein quantitative trait locus 31.0 NPPB NPPA MIR29B1 MIR21 MIR199A1 MIR126
24 brittle bone disorder 31.0 TNFRSF11B SPP1 ELN BMP2
25 heart disease 30.9 TBX5 PDLIM1 NPPB NPPA MYH7 MIR423
26 aortic aneurysm, familial abdominal, 1 30.9 TNFRSF11B MIR29B1 MIR199A1 MIR195 ELN
27 atrial fibrillation 30.9 TBX5 NPPB NPPA MYL4 MYH7 MIR21
28 myocardial infarction 30.8 TNFRSF11B SPP1 NPPB NPPA MYL4 MYH7
29 first-degree atrioventricular block 30.8 NPPB MYH7
30 pulmonary disease, chronic obstructive 30.8 NPPB MIR423 MIR21 MIR199A1 MIR126 ELN
31 connective tissue disease 30.8 TNFRSF11B SPP1 MIR423 MIR29B1 MIR21 MIR199A1
32 anterolateral myocardial infarction 30.8 NPPB NPPA
33 arteries, anomalies of 30.8 MIR423 MIR29B1 MIR21 MIR199A1 MIR126
34 wolff-parkinson-white syndrome 30.8 TBX5 NPPB MYH7 BMP2
35 hyperphosphatemia 30.7 TNFRSF11B SPP1 BMP2
36 bone resorption disease 30.7 TNFRSF11B SPP1 MIR423 MIR199A1 BMP2
37 leukemia, chronic lymphocytic 30.6 MIR424 MIR423 MIR29B1 MIR21 MIR199A1 MIR195
38 periodontitis 30.6 TNFRSF11B SPP1 MIR21
39 peripartum cardiomyopathy 30.5 MYH7 MIR21 MIR195
40 bone disease 30.5 TNFRSF11B SPP1 MIR29B1 BMP2
41 hypertension, essential 30.4 SPP1 NPPB NPPA MIR423 MIR21 MIR126
42 renal cell carcinoma, nonpapillary 30.4 SPP1 MIR423 MIR29B1 MIR21 MIR199A1 MIR195
43 cardiovascular system disease 30.3 TNFRSF11B NPPB NPPA MIR423 MIR29B1 MIR21
44 discrete subaortic stenosis 30.3 NPPA ELN
45 leukemia, acute myeloid 30.1 MIR424 MIR423 MIR29B1 MIR21 MIR199A1 MIR195
46 patent ductus arteriosus and bicuspid aortic valve with hand anomalies 12.8
47 aortic valves stenosis of the child 12.5
48 williams-beuren syndrome 12.3
49 aortic valve disease 3 12.0
50 multicentric osteolysis, nodulosis, and arthropathy 11.5

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:

31
# Description HPO Frequency HPO Source Accession
1 bicuspid aortic valve 31 HP:0001647
2 coarctation of aorta 31 HP:0001680
3 aortic aneurysm 31 HP:0004942
4 calcification of the aorta 31 HP:0004963

Symptoms via clinical synopsis from OMIM:

56
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

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 258)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Trandolapril Approved Phase 4 87679-37-6 5484727
2
Captopril Approved Phase 4 62571-86-2 44093
3
Desflurane Approved Phase 4 57041-67-5 42113
4
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
5
Nebivolol Approved, Investigational Phase 4 99200-09-6, 118457-14-0, 152520-56-4 71301
6
Sodium citrate Approved, Investigational Phase 4 68-04-2
7
Angiotensin II Approved, Investigational Phase 4 4474-91-3, 11128-99-7, 68521-88-0 172198
8
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
9
Aminocaproic acid Approved, Investigational Phase 4 60-32-2 564
10
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
11
Iron Approved, Experimental Phase 4 15438-31-0, 7439-89-6 27284 23925
12
Losartan Approved Phase 4 114798-26-4 3961
13
Methylcobalamin Approved, Investigational Phase 4 13422-55-4
14
Hydroxocobalamin Approved Phase 4 13422-51-0 15589840 11953898
15
Iron isomaltoside 1000 Approved, Investigational Phase 4 1370654-58-2
16
Amlodipine Approved Phase 4 88150-42-9 2162
17
Chlorthalidone Approved Phase 4 77-36-1 2732
18
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
19
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
20
Edoxaban Approved Phase 4 480449-70-5
21
Rivaroxaban Approved Phase 4 366789-02-8
22
Phylloquinone Approved, Investigational Phase 4 84-80-0
23
Clopidogrel Approved Phase 4 113665-84-2, 120202-66-6 60606
24
Ticagrelor Approved Phase 4 274693-27-5 9871419
25
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
26
Acenocoumarol Approved, Investigational Phase 4 152-72-7 9052 54676537
27
Warfarin Approved Phase 4 81-81-2 6691 54678486
28
Phenprocoumon Approved, Investigational Phase 4 435-97-2 54680692 9908
29
Dobutamine Approved Phase 4 34368-04-2 36811
30
Atorvastatin Approved Phase 4 134523-00-5 60823
31
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
32
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
33
Bisoprolol Approved Phase 4 66722-44-9 2405
34
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
35
Glutamic acid Approved, Nutraceutical Phase 4 56-86-0 33032
36
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 44176380
37
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
38
Cobalamin Experimental Phase 4 13408-78-1 6857388
39 Menaquinone Investigational Phase 4 1182-68-9
40
Dabigatran Investigational Phase 4 211914-51-1
41
Simendan Investigational Phase 4 131741-08-7
42 Anesthetics, Inhalation Phase 4
43 Trace Elements Phase 4
44 Micronutrients Phase 4
45 Vitamins Phase 4
46 Hemostatics Phase 4
47 Antifibrinolytic Agents Phase 4
48 Nutrients Phase 4
49 Vitamin K 2 Phase 4
50 Coagulants Phase 4

Interventional clinical trials:

(show top 50) (show all 739)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 Use of Protamine Sulfate During Transcatheter Aortic Valve Implantation - Impact on Bleeding and Thromboembolic Complications Unknown status NCT02974660 Phase 4 Protamine sulfate;0.9% NaCl
4 Safety and Efficacy of Angiotensin Receptor Blocker, Fimasartan, on Patients With Aortic Stenosis Unknown status NCT01589380 Phase 4 Fimasartan;Placebo
5 Desflurane-induced Myocardial Protection in Aortic Valve Surgery: A Pilot Study Unknown status NCT02019797 Phase 4 Desflurane
6 Frailty and Cognitive Function Assessment of TAVI Patients (The Hungarian Frailty Score) - Observational, Prospective, Singe Center Study Unknown status NCT02650388 Phase 4
7 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
8 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
9 Placebo-Controlled, Randomized, Double-Blind Trial of Prophylactic Desmopressin in Heart Valve Surgery Unknown status NCT03343418 Phase 4 Desmopressin;Placebo
10 Assessment of the Prognosis of Persistent Left Bundle Branch Block (LBBB) After Transcatheter Aortic Valve Implantation (TAVI ) by an Electrophysiological and Remote Monitoring Risk-adapted Algorithm Unknown status NCT02482844 Phase 4
11 Comparative Study of the Effects of Telmisartan and Nebivolol on 24-h Ambulatory Blood Pressure and Arterial Stiffness in Patients With Arterial Hypertension Unknown status NCT02057328 Phase 4 TELMISARTAN;NEBIVOLOL
12 Effects of Atorvastatin Treatment on Left Ventricular Diastolic Function in Peritoneal Dialysis Patients (ALEVENT) Unknown status NCT01503671 Phase 4 Atorvastatin
13 Rule Out Transcatheter Aortic Valve Thrombosis With Post Implantation Computed Tomography Unknown status NCT02826200 Phase 4 Acenocoumarol
14 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
15 Acute Hemodynamic Effects of Sildenafil in Patients With Severe Aortic Stenosis Completed NCT01060020 Phase 4 Sildenafil
16 Severe Aortic Stenosis and Acquired Von Willebrand´s Disease: The Impact of Desmopressin in Valve-Replacement Surgery Completed NCT01994330 Phase 4 desmopressin
17 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)
18 Glutamate Infusion in Hypertrophied Ventricle After Aortic Valve Replacement - a Randomized Trial Completed NCT01144039 Phase 4 LG-group;HG-group;Placebo-group
19 Left Ventricular Regression European Study Completed NCT00256165 Phase 4
20 Jeanne Grace; Head Research Subjects Review Board Completed NCT00156520 Phase 4 aprotonin; epsilon aminocaproic acid
21 Aortic Valve Replacement Using Closed Extracorporeal Circuit. Minimized Versus Conventional Extracorporeal Circulation Technique: Qualitative Differences Completed NCT02308566 Phase 4
22 Assessment of Osteoblastic Activity With 18F-Fluoride in Aortic Bioprosthesis Structural Valve Dysfunction (SVD) Completed NCT03015818 Phase 4
23 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
24 Antiplatelet Therapy for Patients Undergoing Transcatheter Aortic Valve Implantation Completed NCT02247128 Phase 4 Aspirin + clopidogrel;Aspirin monotherapy;OAC + clopicogrel;OAC monotherapy
25 Short-term add-on Therapy With Angiotensin Receptor Blocker for End-stage Inotrope-dependent Heart Failure Patients: B-type Natriuretic Peptide Reduction in a Randomized Clinical Trial Completed NCT01857999 Phase 4 Losartan;Placebo
26 Reducing Acute Kidney Injury in TAVI Patients (REDUCE Trial) Completed NCT01866800 Phase 4 Conventional Treatment
27 B-type Natriuretic Peptide for Cardio-Renal Decompensation Syndrome Completed NCT00186329 Phase 4 Natrecor, a recombinant form of B-type Natriuretic Peptide, made by Scios, Inc. vs. placebo
28 Risk Factors for Vascular Calcifications in Hemodialysis Patients: to What Extent is Vitamin K2 Deficiency Involved? Completed NCT02876354 Phase 4 Menaquinone
29 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
30 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 Recruiting NCT03666351 Phase 4 Amlodipine 5mg;Losartan;Losartan and Amlodipine;Amlodipine/Losartan/Chlorthalidone;current treatment
31 Comparison of Conscious Sedation With Propofol and Dexmedetomidine During Transcatheter Aortic Valve Implantation Using the Transfemoral Approach: Randomized Double Blind Prospective Study Recruiting NCT03747432 Phase 4 Propofol;Dexmedetomidine
32 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 Recruiting NCT03284827 Phase 4 NOAC;DAPT
33 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
34 Randomized Control Study of Anticoagulation With Warfarin Por Patients With Aortic Bioprosthesis vs Aspirin Only Recruiting NCT03807921 Phase 4 Warfarin;Aspirin
35 Randomized Trial of Aspirin Versus Rivaroxaban After Replacement of the Aortic Valve With a Biological Valve Prosthesis Recruiting NCT02974920 Phase 4 Rivaroxaban 10 MG;Aspirin
36 Imaging Cardiac Amyloidosis: A Pilot Study Using F-18 Florbetapir Positron Emission Tomography Recruiting NCT01683825 Phase 4 F-18 florbetapir PET
37 A Comparison Between Right Ventricular Apical Pacing and True Mid-septal Pacing, Verified With Computed Tomography: a Randomized Study Recruiting NCT02412176 Phase 4
38 REACTIC-TAVI Trial: Platelet REACtivity According to TICagrelor Dose After Transcatheter AorticValve Implantation. A Pilot Study. Not yet recruiting NCT04331145 Phase 4 Ticagrelor 60mg
39 Periprocedural Continuation Versus Interruption of Oral Anticoagulant Therapy and Protamine Use During Transcatheter Aortic Valve Implantation (POPular PAUSE TAVI) Not yet recruiting NCT04437303 Phase 4 Continuation of oral anticoagulants;Interruption of oral anticoagulants
40 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
41 The Effect of Statin Therapy (Atorvastatin) on the Progression of Calcific Valvular Aortic Stenosis Terminated NCT00590135 Phase 4 atorvastatin (Lipitor)
42 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
43 Balloon Aortic Valvuloplasty Performed Without Heparin to Decrease Vascular and Bleeding Complications of the Procedure Terminated NCT01823393 Phase 4 Heparin;NaCl
44 Aortic Stenosis and PhosphodiEsterase Type 5 iNhibition (ASPEN): A Pilot Study Terminated NCT01275339 Phase 4 Tadalafil;Placebo
45 A Randomized Trial of Beta-blocker Therapy in Aortic Stenosis Terminated NCT01579058 Phase 4 bisoprolol;placebo
46 Aortic Stenosis and PhosphodiEsterase iNhibition With Aortic Valve Replacement (ASPEN-AVR): A Pilot Study Terminated NCT01272388 Phase 4 Tadalafil;Placebo
47 Effects of Levosimendan on Systolic Deformation and Diastolic Function in Patients Eligible for Aortic Valve Replacement With Left Ventricular Hypertrophy Terminated NCT01188369 Phase 4 levosimendan;placebo drug
48 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
49 The Efficacy and Safety of Cleviprex in Ventriculostomy Patients Requiring IV Antihypertensive Therapy Investigator Initiated Trial Withdrawn NCT01042574 Phase 4 Clevidipine butyrate
50 Interest of Statin in Surgical Aortic Stenosis: From Myocardial Preconditioning to Ventricular Reverse Remodeling. Unknown status NCT00811330 Phase 3 Atorvastatin 80 mg

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 29 SMAD6

Anatomical Context for Aortic Valve Disease 2

MalaCards organs/tissues related to Aortic Valve Disease 2:

40
Heart, Endothelial, Brain, Testes, Kidney, Liver, Lung

Publications for Aortic Valve Disease 2

Articles related to Aortic Valve Disease 2:

(show top 50) (show all 3253)
# Title Authors PMID Year
1
Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy. 56 6
30796334 2019
2
A novel SMAD6 variant in a patient with severely calcified bicuspid aortic valve and thoracic aortic aneurysm. 6 56
30848080 2019
3
Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation. 6 56
22275001 2012
4
Usefulness of serial brain natriuretic peptide measurements for managing aortic valve stenosis in pregnancy. 54 61
19633743 2009
5
Transcardiac gradients of N-terminal B-type natriuretic peptide in aortic valve stenosis. 61 54
16087135 2005
6
Influence of receptor activator of nuclear factor kappa B on human aortic valve myofibroblasts. 61 54
15596058 2005
7
Upregulation of myocardial estrogen receptors in human aortic stenosis. 61 54
15533858 2004
8
Perioperative changes in atrial natriuretic peptide plasma levels associated with mitral and aortic valve replacement. 61 54
14973795 2004
9
Progression of human aortic valve stenosis is associated with tenascin-C expression. 54 61
11755293 2002
10
Aortic stenosis in endogenous ochronosis. 54 61
10461246 1999
11
Associations between atrial natriuretic peptides, echocardiographic findings and mortality in an elderly population sample. 61 54
9159597 1997
12
Assessing the safety and efficacy of TAVR compared to SAVR in low-to-intermediate surgical risk patients with aortic valve stenosis: An overview of reviews. 61
32434749 2020
13
3D-printed stenotic aortic valve model to simulate physiology before, during, and after transcatheter aortic valve implantation. 61
32380248 2020
14
Sex-specific differences in age-related aortic valve calcium load: A systematic review and meta-analysis. 61
32334093 2020
15
Prognostic assessment of relative apical sparing pattern of longitudinal strain for severe aortic valve stenosis. 61
32529023 2020
16
Early effects of transcatheter aortic valve replacement on cardiac sympathetic nervous function assessed by 123I-metaiodobenzylguanidine scintigraphy in patients with severe aortic valve stenosis. 61
31502014 2020
17
Effect of Transcatheter Aortic Valve Implantation on Renal Function in Patients With Chronic Kidney Disease. 61
32327190 2020
18
Valve Interstitial Cell-Specific Cyclooxygenase-1 Associated With Calcification of Aortic Valves. 61
31760051 2020
19
Surgical Management of Aorto-Ventricular Tunnel. A Multicenter Study. 61
32057970 2020
20
Myocardial protection technique structured on cardiac mass. 61
31749412 2020
21
Hemodynamic profile of patients with severe aortic valve stenosis and atrial fibrillation versus sinus rhythm. 61
32276775 2020
22
Sex differences in aortic valve calcification in severe aortic valve stenosis: association between computer tomography assessed calcification and valvular calcium concentrations. 61
32500142 2020
23
The Prognostic Value of C-reactive Protein to Albumin Ratio in Patients with Isolated Degenerative Aortic Valve Stenosis Undergoing Surgical Aortic Valve Replacement. 61
32549101 2020
24
The learning curve of minimally invasive aortic valve replacement for aortic valve stenosis. 61
31659703 2020
25
Triglycerides and remnant cholesterol associated with risk of aortic valve stenosis: Mendelian randomization in the Copenhagen General Population Study. 61
32267934 2020
26
Letter by Tziakas et al Regarding Article, "Aortic Valve Stenosis: From Basic Mechanisms to Novel Therapeutic Targets". 61
32459539 2020
27
Response by Goody and Jansen to Letter Regarding Article, "Aortic Valve Stenosis: From Basic Mechanisms to Novel Therapeutic Targets". 61
32459540 2020
28
Predicting and improving outcomes of transcatheter aortic valve replacement in older adults and the elderly. 61
32552064 2020
29
Aortic valve calcification in the era of non-coding RNAs: The revolution to come in aortic stenosis management? 61
32195449 2020
30
Mitral valve perforation during transcatheter aortic valve replacement. 61
32479110 2020
31
Relationship between Invasive and Echocardiographic Transvalvular Gradients after Transcatheter Aortic Valve Replacement. 61
31970689 2020
32
Lipoprotein(a): Expanding our knowledge of aortic valve narrowing. 61
32525013 2020
33
Two approaches-one phenomenon-thrombocytopenia after surgical and transcatheter aortic valve replacement. 61
32349178 2020
34
Cardiac amyloidosis in patient undergoing TAVR, why we need to think about it. 61
32571759 2020
35
Omega-3 Polyunsaturated Fatty Acids Decrease Aortic Valve Disease through the Resolvin E1 and ChemR23 Axis. 61
32506925 2020
36
Long-term outcome and quality of life after biological aortic valve replacement in non-elderly adults. 61
32526161 2020
37
Pathological Role of Receptor for Advanced Glycation End Products in Calcified Aortic Valve Stenosis. 61
32552251 2020
38
Plasma lipoprotein(a) concentration as an independent predictor of hemodynamic progression of aortic valve stenosis. 61
32577944 2020
39
Assessment of aortic valve stenosis severity: multimodality imaging may be the key. 61
32533186 2020
40
Epigenetics of paraoxonases. 61
32487820 2020
41
Lipoprotein(a) and calcific aortic valve stenosis: A systematic review. 61
32526213 2020
42
Transcatheter aortic valve replacement for patients with severe bicuspid aortic stenosis. 61
32361278 2020
43
Why are congenital heart defects being missed? 61
31131945 2020
44
Homozygous familial hypercholesterolemia with severe involvement of the aortic valve-A sibling-controlled case study on the efficacy of lipoprotein apheresis. 61
32163632 2020
45
Clinical history and management of bicuspid aortic valve in children and adolescents. 61
32497585 2020
46
Alcohol Consumption and Cardiovascular Disease: A Mendelian Randomization Study. 61
32367730 2020
47
Hard events, stiff valves, stiff arteries and stiff ventricles: the complex interactions of degenerative aortic valve stenosis. 61
32485194 2020
48
The right parasternal window: when Doppler-beam alignment may be life-saving in patients with aortic valve stenosis. 61
32404852 2020
49
Incidence of Ischemic Stroke in Individuals With and Without Aortic Valve Stenosis: A Danish Retrospective Cohort Study. 61
32216533 2020
50
Cyclophilin A inhibition as potential treatment of human aortic valve calcification. 61
32434054 2020

Variations for Aortic Valve Disease 2

ClinVar genetic disease variations for Aortic Valve Disease 2:

6 (show top 50) (show all 145) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBX5 NM_000192.3(TBX5):c.278dup (p.Leu94fs)duplication Pathogenic 411102 rs1555226420 12:114837401-114837402 12:114399596-114399597
2 TBX5 NM_000192.3(TBX5):c.443G>A (p.Trp148Ter)SNV Pathogenic 411100 rs1060503154 12:114836445-114836445 12:114398640-114398640
3 TBX5 NM_000192.3(TBX5):c.668C>T (p.Thr223Met)SNV Pathogenic 449105 rs1555225344 12:114823368-114823368 12:114385563-114385563
4 TBX5 NC_000012.11:g.(?_114793317)_(114841723_?)deldeletion Pathogenic 477653 12:114793317-114841723
5 TBX5 NM_000192.3(TBX5):c.629_632dup (p.Ile212fs)duplication Pathogenic 477658 rs1555225989 12:114832576-114832577 12:114394771-114394772
6 TBX5 NM_000192.3(TBX5):c.595dup (p.Thr199fs)duplication Pathogenic 543962 rs1555226005 12:114832613-114832614 12:114394808-114394809
7 TBX5 NM_000192.3(TBX5):c.432dup (p.Gly145fs)duplication Pathogenic 543961 rs1555226322 12:114836455-114836456 12:114398650-114398651
8 TBX5 NM_000192.3(TBX5):c.390del (p.Met131fs)deletion Pathogenic 577533 rs1565941046 12:114836498-114836498 12:114398693-114398693
9 TBX5 NM_000192.3(TBX5):c.868C>T (p.Gln290Ter)SNV Pathogenic 569967 rs1565927747 12:114804084-114804084 12:114366279-114366279
10 TBX5 NM_000192.3(TBX5):c.1104C>G (p.Tyr368Ter)SNV Pathogenic 567672 rs1565923835 12:114793790-114793790 12:114355985-114355985
11 TBX5 NM_000192.3(TBX5):c.163_172del (p.Lys55fs)deletion Pathogenic 656872 12:114839701-114839710 12:114401896-114401905
12 TBX5 NC_000012.12:g.(?_114401806)_(114401940_?)deldeletion Pathogenic 652398 12:114839611-114839745 12:114401806-114401940
13 TBX5 NM_000192.3(TBX5):c.362+2T>CSNV Pathogenic 665547 12:114837316-114837316 12:114399511-114399511
14 TBX5 NC_000012.12:g.(?_114401816)_(114401930_?)deldeletion Pathogenic 661191 12:114839621-114839735 12:114401816-114401930
15 TBX5 NM_000192.3(TBX5):c.593dup (p.Asn198fs)duplication Pathogenic 633726 rs1565939215 12:114832615-114832616 12:114394810-114394811
16 SMAD6 NM_005585.5(SMAD6):c.1168_1173dup (p.Gly390_Ile391dup)duplication Pathogenic 635569 15:67073547-67073548 15:66781209-66781210
17 TBX5 NM_000192.3(TBX5):c.926_927del (p.Asn309fs)deletion Pathogenic 659191 12:114804025-114804026 12:114366220-114366221
18 TBX5 NC_000012.12:g.(?_114394721)_(114394913_?)deldeletion Pathogenic 831407 12:114832526-114832718
19 TBX5 NM_181486.4(TBX5):c.246del (p.Met83fs)deletion Pathogenic 862164 12:114837434-114837434 12:114399629-114399629
20 TBX5 NM_181486.4(TBX5):c.239G>A (p.Gly80Glu)SNV Pathogenic 861408 12:114839634-114839634 12:114401829-114401829
21 TBX5 NM_181486.4(TBX5):c.154G>T (p.Glu52Ter)SNV Pathogenic 835086 12:114839719-114839719 12:114401914-114401914
22 TBX5 NM_181486.4(TBX5):c.69del (p.Cys24fs)deletion Pathogenic 857821 12:114841635-114841635 12:114403830-114403830
23 TBX5 NM_181486.4(TBX5):c.727del (p.Glu243fs)deletion Pathogenic 846539 12:114823309-114823309 12:114385504-114385504
24 TBX5 NM_000192.3(TBX5):c.709C>T (p.Arg237Trp)SNV Pathogenic 7995 rs104894382 12:114823327-114823327 12:114385522-114385522
25 SMAD6 NM_005585.5(SMAD6):c.1451G>T (p.Cys484Phe)SNV Pathogenic 37111 rs387907283 15:67073833-67073833 15:66781495-66781495
26 SMAD6 NM_005585.5(SMAD6):c.1244C>T (p.Pro415Leu)SNV Pathogenic 37112 rs387907284 15:67073626-67073626 15:66781288-66781288
27 TBX5 NM_181486.4(TBX5):c.663+1G>ASNV Pathogenic 849438 12:114832545-114832545 12:114394740-114394740
28 TBX5 NM_000192.3(TBX5):c.835C>T (p.Arg279Ter)SNV Pathogenic 213832 rs863223788 12:114804117-114804117 12:114366312-114366312
29 TBX5 NM_000192.3(TBX5):c.958del (p.Ile320fs)deletion Pathogenic 237218 rs878853750 12:114803994-114803994 12:114366189-114366189
30 TBX5 NM_000192.3(TBX5):c.587C>A (p.Ser196Ter)SNV Pathogenic 279906 rs886041247 12:114832622-114832622 12:114394817-114394817
31 TBX5 NM_000192.3(TBX5):c.456del (p.Val153fs)deletion Pathogenic 377113 rs1057520136 12:114836432-114836432 12:114398627-114398627
32 TBX5 NM_181486.4(TBX5):c.710G>A (p.Arg237Gln)SNV Pathogenic/Likely pathogenic 7993 rs104894378 12:114823326-114823326 12:114385521-114385521
33 TBX5 NM_181486.4(TBX5):c.243-1G>ASNV Likely pathogenic 855378 12:114837438-114837438 12:114399633-114399633
34 TBX5 NM_181486.4(TBX5):c.658_660del (p.His220del)deletion Likely pathogenic 856731 12:114832549-114832551 12:114394744-114394746
35 TBX5 NM_000192.3(TBX5):c.363-2A>GSNV Likely pathogenic 575638 rs1565941072 12:114836527-114836527 12:114398722-114398722
36 TBX5 NM_000192.3(TBX5):c.1115C>T (p.Ser372Leu)SNV Conflicting interpretations of pathogenicity 477655 rs143068551 12:114793779-114793779 12:114355974-114355974
37 TBX5 NM_000192.3(TBX5):c.729G>T (p.Glu243Asp)SNV Conflicting interpretations of pathogenicity 519311 rs186183947 12:114823307-114823307 12:114385502-114385502
38 SMAD6 NM_005585.5(SMAD6):c.42G>A (p.Trp14Ter)SNV Conflicting interpretations of pathogenicity 471759 rs1246889300 15:66995638-66995638 15:66703300-66703300
39 TBX5 NM_000192.3(TBX5):c.787G>A (p.Val263Met)SNV Conflicting interpretations of pathogenicity 198693 rs147405081 12:114804165-114804165 12:114366360-114366360
40 TBX5 NM_000192.3(TBX5):c.68C>A (p.Pro23His)SNV Conflicting interpretations of pathogenicity 307310 rs141609745 12:114841636-114841636 12:114403831-114403831
41 TBX5 NM_000192.3(TBX5):c.836G>A (p.Arg279Gln)SNV Conflicting interpretations of pathogenicity 264163 rs115178276 12:114804116-114804116 12:114366311-114366311
42 TBX5 NM_000192.3(TBX5):c.55G>T (p.Ala19Ser)SNV Conflicting interpretations of pathogenicity 264111 rs200461617 12:114841649-114841649 12:114403844-114403844
43 SMAD6 NM_005585.5(SMAD6):c.794del (p.His265fs)deletion Conflicting interpretations of pathogenicity 590964 rs1567092071 15:66996390-66996390 15:66704052-66704052
44 TBX5 NM_000192.3(TBX5):c.1289T>C (p.Phe430Ser)SNV Uncertain significance 565639 rs1396124456 12:114793605-114793605 12:114355800-114355800
45 TBX5 NM_181486.4(TBX5):c.1124G>A (p.Arg375Gln)SNV Uncertain significance 837719 12:114793770-114793770 12:114355965-114355965
46 TBX5 NM_181486.4(TBX5):c.950A>G (p.His317Arg)SNV Uncertain significance 841067 12:114804002-114804002 12:114366197-114366197
47 TBX5 NM_000192.3(TBX5):c.902C>G (p.Ser301Cys)SNV Uncertain significance 650528 12:114804050-114804050 12:114366245-114366245
48 SMAD6 NM_005585.5(SMAD6):c.95_97GCG[4] (p.Gly32_Gly33dup)short repeat Uncertain significance 860108 15:66995689-66995690 15:66703351-66703352
49 SMAD6 NM_005585.5(SMAD6):c.106G>T (p.Asp36Tyr)SNV Uncertain significance 837002 15:66995702-66995702 15:66703364-66703364
50 SMAD6 NM_005585.5(SMAD6):c.341dup (p.Trp115fs)duplication Uncertain significance 852345 15:66995934-66995935 15:66703596-66703597

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.17 NPPB NPPA MYL4 MYH7
2
Show member pathways
12 TBX5 NPPB NPPA MYH7 BMP2
3 11.92 MIR423 MIR29B1 MIR21 MIR199A1 MIR195 MIR126
4 11.41 TBX5 SPP1 BMP2
5 10.53 TNFRSF11B SPP1
6 10.27 NPPB NPPA MYH7 BMP2

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 9.36 TNFRSF11B SPP1 NPPB NPPA MIR424 MIR423

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 BMP signaling pathway GO:0030509 9.74 SMAD6 MIR21 BMP2
2 negative regulation of cell proliferation GO:0008285 9.63 TBX5 SMAD6 MIR29B1 MIR21 MIR195 BMP2
3 negative regulation of vascular endothelial growth factor signaling pathway GO:1900747 9.62 MIR424 MIR199A1
4 stress fiber assembly GO:0043149 9.61 PDLIM1 ELN
5 positive regulation of connective tissue replacement GO:1905205 9.61 MIR199A1 MIR195
6 cardiac muscle hypertrophy in response to stress GO:0014898 9.6 NPPA MYH7
7 negative regulation of systemic arterial blood pressure GO:0003085 9.59 NPPB NPPA
8 atrioventricular valve morphogenesis GO:0003181 9.58 TBX5 BMP2
9 negative regulation of cytokine-mediated signaling pathway GO:0001960 9.58 MIR29B1 MIR21
10 positive regulation of fat cell differentiation GO:0045600 9.58 MIR29B1 MIR21 BMP2
11 negative regulation of matrix metallopeptidase secretion GO:1904465 9.56 MIR29B1 MIR199A1
12 negative regulation of angiogenesis GO:0016525 9.56 NPPB MIR424 MIR21 CNMD
13 cGMP biosynthetic process GO:0006182 9.55 NPPB NPPA
14 negative regulation of oxidative stress-induced cell death GO:1903202 9.54 MIR29B1 MIR195
15 receptor guanylyl cyclase signaling pathway GO:0007168 9.52 NPPB NPPA
16 positive regulation of metalloendopeptidase activity GO:1904685 9.51 MIR29B1 MIR21
17 negative regulation of endothelial cell proliferation GO:0001937 9.5 MIR424 MIR21 CNMD
18 regulation of calcium ion transmembrane transport via high voltage-gated calcium channel GO:1902514 9.49 NPPA MIR21
19 pericardium development GO:0060039 9.48 TBX5 BMP2
20 negative regulation of metallopeptidase activity GO:1905049 9.46 MIR29B1 MIR199A1
21 proteoglycan metabolic process GO:0006029 9.43 CNMD BMP2
22 positive regulation of potassium ion export across plasma membrane GO:1903766 9.37 NPPA MIR21
23 gene silencing by miRNA GO:0035195 9.17 MIR424 MIR423 MIR29B1 MIR21 MIR199A1 MIR195
24 cell growth involved in cardiac muscle cell development GO:0061049 9.13 NPPA MIR199A1 MIR195

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

# Name GO ID Score Top Affiliating Genes
1 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.17 MIR424 MIR423 MIR29B1 MIR21 MIR199A1 MIR195
2 hormone receptor binding GO:0051427 8.96 NPPB NPPA

Sources for Aortic Valve Disease 2

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11 DGIdb
17 EFO
18 ExPASy
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57 OMIM via Orphanet
61 PubMed
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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