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 57 12 72 29 13 6 70
Aortic Valve Stenosis 57 12 73 20 72 6 44 15 70
Aortic Stenosis 12 20 54 15 39 17
Rheumatic Aortic Stenosis 12 70 32
Bicuspid Aortic Valve 57 72
Aovd2 57 72
Rheumatic Aortic Valve Stenosis 12
Aortic Valve Disease, Type 2 39
Valvular Aortic Stenosis 20

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
aortic valve disease 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080334 DOID:1712
OMIM® 57 614823
OMIM Phenotypic Series 57 PS109730
ICD9CM 34 395.0 746.3
MeSH 44 D001024
NCIt 50 C50462
MedGen 41 C3542024
UMLS 70 C0003507 C0152417 C0155567 more

Summaries for Aortic Valve Disease 2

GARD : 20 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 valve insufficiency 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 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, bone and endothelial, 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® : 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 20-May-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 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 713)
# Related Disease Score Top Affiliating Genes
1 aortic valve insufficiency 32.6 NPPB NPPA ELN
2 aortic aneurysm 32.4 MIR29B1 MIR21 MIR195 ELN
3 aortic valve disease 1 32.3 TBX5 SPP1 SMAD6 MIR29B1 MIR21 MIR199A1
4 heart septal defect 31.8 TBX5 NPPA MIR423 MIR199A1
5 ventricular septal defect 31.8 TBX5 NPPB NPPA MYH7
6 atrioventricular block 31.6 TBX5 NPPB MYH7
7 patent ductus arteriosus 1 31.5 TBX5 NPPB MIR379 ELN
8 orthostatic intolerance 31.5 MIR423 MIR379 MIR29B1 ELN
9 aortic disease 31.5 MIR424 MIR423 MIR29B1 MIR21 MIR199A1 MIR195
10 mitral valve insufficiency 31.4 TBX5 NPPB NPPA MYH7 MIR423 ELN
11 mitral valve disease 31.2 NPPB NPPA MIR423 ELN
12 hypoplastic left heart syndrome 31.2 TBX5 SMAD6 NPPB NPPA ELN
13 vascular disease 31.2 SPP1 NPPB MIR21 MIR199A1 MIR126 ELN
14 atrial heart septal defect 31.2 TBX5 NPPB NPPA MYH7 MIR379 ELN
15 mitral valve stenosis 31.1 NPPB NPPA MIR379
16 tetralogy of fallot 31.0 TBX5 NPPB NPPA MIR379 ELN
17 arteriosclerosis 30.9 SPP1 MIR21 MIR126 ELN
18 acute myocardial infarction 30.9 NPPB NPPA MYL4 MIR423 MIR21 MIR199A1
19 cerebrovascular disease 30.9 SPP1 NPPB NPPA MIR21 MIR199A1
20 atrial fibrillation 30.9 TBX5 NPPB NPPA MYL4 MYH7 MIR199A1
21 dilated cardiomyopathy 30.9 TBX5 SPP1 NPPB NPPA MYH7 MIR199A1
22 lung disease 30.9 NPPB MIR21 MIR199A1 ELN
23 chronic kidney disease 30.8 SPP1 NPPB NPPA MIR21 MIR126
24 heart disease 30.8 TBX5 NPPB NPPA MYL4 MYH7 MIR423
25 kidney disease 30.8 SPP1 NPPB NPPA MIR21 MIR199A1 MIR126
26 holt-oram syndrome 30.8 TBX5 NPPA MYH7
27 inferior myocardial infarction 30.8 NPPB HGD
28 patent foramen ovale 30.7 TBX5 NPPB NPPA
29 first-degree atrioventricular block 30.7 NPPB MYH7
30 pulmonary disease, chronic obstructive 30.7 NPPB MIR423 MIR21 MIR199A1 MIR126 ELN
31 respiratory failure 30.7 NPPB NPPA MYH7 MIR126
32 discrete subaortic stenosis 30.7 NPPA ELN
33 anterolateral myocardial infarction 30.6 NPPB NPPA
34 connective tissue disease 30.6 SPP1 MIR423 MIR29B1 MIR21 MIR199A1 MIR150
35 heart valve disease 30.6 NPPB NPPA MIR424 MIR423 MIR379 MIR29B1
36 aortic aneurysm, familial abdominal, 1 30.6 SPP1 MIR29B1 MIR199A1 MIR195 MIR126 ELN
37 wolff-parkinson-white syndrome 30.5 NPPB MYH7 BMP2
38 bone resorption disease 30.5 SPP1 MIR199A1 BMP2
39 arteries, anomalies of 30.5 MIR423 MIR29B1 MIR21 MIR199A1 MIR150 MIR126
40 myocardial infarction 30.5 NPPB NPPA MYL4 MYH7 MIR423 MIR29B1
41 leukemia, chronic lymphocytic 30.5 MIR424 MIR423 MIR29B1 MIR21 MIR199A1 MIR195
42 tricuspid valve disease 30.4 TBX5 NPPB MYH7
43 peripartum cardiomyopathy 30.4 MYH7 MIR21 MIR195
44 hypertension, essential 30.3 SPP1 NPPB NPPA MIR423 MIR21 MIR126
45 muscular disease 30.3 MYH7 MIR21 MIR199A1 MIR126
46 lipoprotein quantitative trait locus 30.3 TBX5 NPPB NPPA MYH7 MIR423 MIR29B1
47 cardiovascular system disease 30.2 NPPB NPPA MIR423 MIR29B1 MIR21 MIR199A1
48 renal cell carcinoma, nonpapillary 30.1 SPP1 MIR424 MIR423 MIR29B1 MIR21 MIR199A1
49 leukemia, acute myeloid 29.9 MIR424 MIR423 MIR29B1 MIR21 MIR199A1 MIR195
50 williams-beuren syndrome 11.6

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®:

57 (Updated 20-May-2021)
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 20-May-2021)

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 250)
# 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
Sodium citrate Approved, Investigational Phase 4 68-04-2
5
Remifentanil Approved Phase 4 132875-61-7 60815
6
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
7
Vitamin K1 Approved, Investigational Phase 4 84-80-0 5284607
8
Iron isomaltoside 1000 Approved, Investigational Phase 4 1370654-58-2
9
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
10
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
11
Ticagrelor Approved Phase 4 274693-27-5 9871419
12
Warfarin Approved Phase 4 81-81-2 6691 54678486
13
Chlorthalidone Approved Phase 4 77-36-1 2732
14
Amlodipine Approved Phase 4 88150-42-9 2162
15
Rivaroxaban Approved Phase 4 366789-02-8
16
Methylcobalamin Approved, Investigational Phase 4 13422-55-4
17
Hydroxocobalamin Approved Phase 4 13422-51-0 11953898 15589840
18
Edoxaban Approved Phase 4 480449-70-5
19
Acenocoumarol Approved, Investigational Phase 4 152-72-7 9052 54676537
20
Phenprocoumon Approved, Investigational Phase 4 435-97-2 9908 54680692
21
Iron Approved Phase 4 7439-89-6 23925 29936
22
Dobutamine Approved Phase 4 34368-04-2 36811
23
Bisoprolol Approved Phase 4 66722-44-9 2405
24
Atorvastatin Approved Phase 4 134523-00-5 60823
25
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
26
Heparin Approved, Investigational Phase 4 9005-49-6 772 9812414
27
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
28
Glutamic acid Approved, Nutraceutical Phase 4 56-86-0 33032
29
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
30
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 44176380
31 Menaquinone Investigational Phase 4 1182-68-9
32
Cobalamin Experimental Phase 4 13408-78-1 6857388
33
Dabigatran Investigational Phase 4 211914-51-1
34
Simendan Investigational Phase 4 131741-08-7
35 Angiotensin-Converting Enzyme Inhibitors Phase 4
36 Anesthetics, Inhalation Phase 4
37 Citrate Phase 4
38 Sildenafil Citrate Phase 4 171599-83-0
39 Vasopressins Phase 4
40 Arginine Vasopressin Phase 4
41 Deamino Arginine Vasopressin Phase 4
42 Anesthetics, General Phase 4
43 Narcotics Phase 4
44 Anesthetics, Intravenous Phase 4
45 Analgesics, Opioid Phase 4
46 N-monoacetylcystine Phase 4
47 Hormones Phase 4
48 Vitamins Phase 4
49 Vitamin B Complex Phase 4
50 Vitamin K Phase 4

Interventional clinical trials:

(show top 50) (show all 661)
# 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 Safety and Efficacy of Angiotensin Receptor Blocker, Fimasartan, on Patients With Aortic Stenosis Unknown status NCT01589380 Phase 4 Fimasartan;Placebo
3 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
4 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
5 Desflurane-induced Myocardial Protection in Aortic Valve Surgery: A Pilot Study Unknown status NCT02019797 Phase 4 Desflurane
6 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
7 Frailty and Cognitive Function Assessment of TAVI Patients (The Hungarian Frailty Score) - Observational, Prospective, Singe Center Study Unknown status NCT02650388 Phase 4
8 Acute Hemodynamic Effects of Sildenafil in Patients With Severe Aortic Stenosis Completed NCT01060020 Phase 4 Sildenafil
9 Severe Aortic Stenosis and Acquired Von Willebrand´s Disease: The Impact of Desmopressin in Valve-Replacement Surgery Completed NCT01994330 Phase 4 desmopressin
10 Randomized Control Study of Anticoagulation With Warfarin Por Patients With Aortic Bioprosthesis vs Aspirin Only Completed NCT03807921 Phase 4 Warfarin;Aspirin
11 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)
12 Aortic Valve Replacement Using Closed Extracorporeal Circuit. Minimized Versus Conventional Extracorporeal Circulation Technique: Qualitative Differences Completed NCT02308566 Phase 4
13 Left Ventricular Regression European Study Completed NCT00256165 Phase 4
14 Use of Protamine Sulfate During Transcatheter Aortic Valve Implantation - Impact on Bleeding and Thromboembolic Complications Completed NCT02974660 Phase 4 Protamine sulfate;0.9% NaCl
15 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
16 Glutamate Infusion in Hypertrophied Ventricle After Aortic Valve Replacement - a Randomized Trial Completed NCT01144039 Phase 4 LG-group;HG-group;Placebo-group
17 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
18 Reducing Acute Kidney Injury in TAVI Patients (REDUCE Trial) Completed NCT01866800 Phase 4 Conventional Treatment
19 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
20 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
21 REACTIC-TAVI Trial: Platelet REACtivity According to TICagrelor Dose After Transcatheter AorticValve Implantation. A Pilot Study. Recruiting NCT04331145 Phase 4 Ticagrelor 60mg
22 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
23 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
24 Dapagliflozin After Transcatheter Aortic Valve Implantation Recruiting NCT04696185 Phase 4 Dapagliflozin 10 MG
25 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
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 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
29 A Randomized Clinical Trial of Intravenous Iron Supplementation in TAVI and SAVR Patients With Iron Deficiency Not yet recruiting NCT04786769 Phase 4 Ferric carboxymaltose
30 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
31 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
32 A Randomized Trial of Beta-blocker Therapy in Aortic Stenosis Terminated NCT01579058 Phase 4 bisoprolol;placebo
33 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
34 The Effect of Statin Therapy (Atorvastatin) on the Progression of Calcific Valvular Aortic Stenosis Terminated NCT00590135 Phase 4 atorvastatin (Lipitor)
35 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
36 Aortic Stenosis and PhosphodiEsterase iNhibition With Aortic Valve Replacement (ASPEN-AVR): A Pilot Study Terminated NCT01272388 Phase 4 Tadalafil;Placebo
37 Aortic Stenosis and PhosphodiEsterase Type 5 iNhibition (ASPEN): A Pilot Study Terminated NCT01275339 Phase 4 Tadalafil;Placebo
38 Balloon Aortic Valvuloplasty Performed Without Heparin to Decrease Vascular and Bleeding Complications of the Procedure Terminated NCT01823393 Phase 4 Heparin;NaCl
39 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
40 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
41 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
42 Interest of Statin in Surgical Aortic Stenosis: From Myocardial Preconditioning to Ventricular Reverse Remodeling. Unknown status NCT00811330 Phase 3 Atorvastatin 80 mg
43 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
44 Safety Profile Evaluation of TICagrelor Alone Compared to a Combination of Lysine Acetylsalicylate-Clopidogrel in the Context of Transcatheter Aortic Valve Implantation (TAVI) Unknown status NCT02817789 Phase 3 Ticagrelor alone;Combination lysine acetylsalicylate - clopidogrel
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 Value of Oral Phytate (InsP6) in the Prevention of Progression of the Cardiovascular Calcifications Unknown status NCT01000233 Phase 2, Phase 3
47 Effect of Cholesterol Lowering on the Progression of Aortic Stenosis in Patients With Mild to Moderate Aortic Stenosis (ASTRONOMER)Aortic Stenosis Progression Observation Measuring Effects of Rosuvastatin and The Sub-Study Protocol. Completed NCT00800800 Phase 3 Rosuvastatin;Placebo
48 Anti-Thrombotic Strategy to Lower All Cardiovascular and Neurologic Ischemic and Hemorrhagic Events After Trans-Aortic Valve Implantation for Aortic Stenosis Completed NCT02664649 Phase 3 Apixaban;Standard of care
49 A Multicenter, Double-Blind, Randomized, Placebo-Controlled Study to Evaluate the Effects of Ezetimibe + Simvastatin on Clinical Outcomes in Patients With Aortic Stenosis Completed NCT00092677 Phase 3 ezetimibe (+) simvastatin;Comparator: Placebo
50 Combined ErythroPoietin and Iron Therapy for AnemiC Patients With Severe Symptomatic Aortic Stenosis Undergoing Transcatheter Aortic Valve REplacement- The EPICURE Trial A Prospective Double Blind Randomized Trial Completed NCT02390102 Phase 3 Erythropoietin;Placebo

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, Bone, Endothelial, Kidney, Brain, Liver, Tongue

Publications for Aortic Valve Disease 2

Articles related to Aortic Valve Disease 2:

(show top 50) (show all 3516)
# Title Authors PMID Year
1
Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy. 57 6
30796334 2019
2
A novel SMAD6 variant in a patient with severely calcified bicuspid aortic valve and thoracic aortic aneurysm. 6 57
30848080 2019
3
Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation. 57 6
22275001 2012
4
Targeted next-generation sequencing-based molecular diagnosis of congenital hand malformations in Chinese population. 6
30143665 2018
5
The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects. 6
25931334 2015
6
Identification of TBX5 mutations in a series of 94 patients with Tetralogy of Fallot. 6
25263169 2014
7
Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease. 6
25500235 2014
8
Holt-Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: functional characterization of a de novo TBX5 mutation. 6
24664498 2014
9
Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome. 6
20519243 2010
10
Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome. 6
21637475 2010
11
Functional role of transcriptional factor TBX5 in pre-mRNA splicing and Holt-Oram syndrome via association with SC35. 6
19648116 2009
12
Novel TBX5 mutations in patients with Holt-Oram syndrome. 6
17534187 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. 6
16917909 2006
14
Cooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heart. 6
16380715 2006
15
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. 6
16183809 2005
16
Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome. 6
15710732 2005
17
Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype. 6
12789647 2003
18
Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome. 6
12499378 2003
19
Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome. 6
11555635 2001
20
Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. 6
10077612 1999
21
Helicobacter pylori infection and autoimmune processes: an emerging field of study. 6
10077762 1998
22
Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. 6
8988165 1997
23
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. 6
8988164 1997
24
Usefulness of serial brain natriuretic peptide measurements for managing aortic valve stenosis in pregnancy. 54 61
19633743 2009
25
Transcardiac gradients of N-terminal B-type natriuretic peptide in aortic valve stenosis. 61 54
16087135 2005
26
Influence of receptor activator of nuclear factor kappa B on human aortic valve myofibroblasts. 61 54
15596058 2005
27
Upregulation of myocardial estrogen receptors in human aortic stenosis. 61 54
15533858 2004
28
Perioperative changes in atrial natriuretic peptide plasma levels associated with mitral and aortic valve replacement. 54 61
14973795 2004
29
Progression of human aortic valve stenosis is associated with tenascin-C expression. 54 61
11755293 2002
30
Aortic stenosis in endogenous ochronosis. 61 54
10461246 1999
31
Associations between atrial natriuretic peptides, echocardiographic findings and mortality in an elderly population sample. 61 54
9159597 1997
32
Differential diagnostic and treatment difficulties in a patient with acquired von Willebrand syndrome. 61
33663351 2021
33
Left Ventricular Remodeling in Degenerative Aortic Valve Stenosis. 61
33588124 2021
34
ApoA-I mimetic does not improve left ventricular diastolic dysfunction in rabbits without aortic valve stenosis. 61
33421451 2021
35
Accelerated aortic 4D flow MRI with wave-CAIPI. 61
33231886 2021
36
Commentary: Reversibility of aortic valve stenosis? 61
31813536 2021
37
Transcatheter aortic valve replacement after chest radiation: A propensity-matched analysis. 61
33359282 2021
38
Prognostic value of cardiac 123 I-metaiodobenzylguanidine imaging for predicting cardiac events after transcatheter aortic valve replacement. 61
33400391 2021
39
Simultaneous transaortic transcatheter aortic valve implantation and off-pump coronary artery bypass: An effective hybrid approach. 61
33491207 2021
40
Successful Mechanical Aspiration of Embolized Vessel Fragment During TAVR With Penumbra Indigo Cat Rx Catheter. 61
33794481 2021
41
Left ventricular asymmetric remodeling and subclinical left ventricular dysfunction in patients with calcific aortic valve stenosis - Results from a subanalysis of the PROGRESSA study. 61
33727121 2021
42
Modeling of aortic valve stenosis using fluid-structure interaction method. 61
33657934 2021
43
Feasibility and Performance of Noninvasive Ultrasound Therapy in Patients With Severe Symptomatic Aortic Valve Stenosis: A First-in-Human Study. 61
33486971 2021
44
Correction: First-phase ejection fraction: association with remodelling and outcome in aortic valve stenosis. 61
33731420 2021
45
Circulatory efficiency in patients with severe aortic valve stenosis before and after aortic valve replacement. 61
33641670 2021
46
Correction to: Predictors of high residual gradient after transcatheter aortic valve replacement in bicuspid aortic valve stenosis. 61
33755778 2021
47
Circulating chaperones in patients with aortic valve stenosis undergoing TAVR: impact of concomitant chronic kidney disease. 61
33684593 2021
48
Enhancer-associated aortic valve stenosis risk locus 1p21.2 alters NFATC2 binding site and promotes fibrogenesis. 61
33748722 2021
49
The current diagnosis and treatment of patients with aortic valve stenosis. 61
33728942 2021
50
Electrocardiogram screening for aortic valve stenosis using artificial intelligence. 61
33748852 2021

Variations for Aortic Valve Disease 2

ClinVar genetic disease variations for Aortic Valve Disease 2:

6 (show top 50) (show all 236)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TBX5 NM_000192.3(TBX5):c.958del (p.Ile320fs) Deletion Pathogenic 237218 rs878853750 GRCh37: 12:114803994-114803994
GRCh38: 12:114366189-114366189
2 SMAD6 NM_005585.5(SMAD6):c.1451G>T (p.Cys484Phe) SNV Pathogenic 37111 rs387907283 GRCh37: 15:67073833-67073833
GRCh38: 15:66781495-66781495
3 SMAD6 NM_005585.5(SMAD6):c.1244C>T (p.Pro415Leu) SNV Pathogenic 37112 rs387907284 GRCh37: 15:67073626-67073626
GRCh38: 15:66781288-66781288
4 TBX5 NM_000192.3(TBX5):c.456del (p.Val153fs) Deletion Pathogenic 377113 rs1057520136 GRCh37: 12:114836432-114836432
GRCh38: 12:114398627-114398627
5 TBX5 NM_000192.3(TBX5):c.443G>A (p.Trp148Ter) SNV Pathogenic 411100 rs1060503154 GRCh37: 12:114836445-114836445
GRCh38: 12:114398640-114398640
6 TBX5 NM_000192.3(TBX5):c.709C>T (p.Arg237Trp) SNV Pathogenic 7995 rs104894382 GRCh37: 12:114823327-114823327
GRCh38: 12:114385522-114385522
7 TBX5 NM_000192.3(TBX5):c.432dup (p.Gly145fs) Duplication Pathogenic 543961 rs1555226322 GRCh37: 12:114836455-114836456
GRCh38: 12:114398650-114398651
8 TBX5 NM_000192.3(TBX5):c.595dup (p.Thr199fs) Duplication Pathogenic 543962 rs1555226005 GRCh37: 12:114832613-114832614
GRCh38: 12:114394808-114394809
9 TBX5 NM_000192.3(TBX5):c.587C>A (p.Ser196Ter) SNV Pathogenic 279906 rs886041247 GRCh37: 12:114832622-114832622
GRCh38: 12:114394817-114394817
10 TBX5 NM_000192.3(TBX5):c.668C>T (p.Thr223Met) SNV Pathogenic 449105 rs1555225344 GRCh37: 12:114823368-114823368
GRCh38: 12:114385563-114385563
11 TBX5 NM_000192.3(TBX5):c.1104C>G (p.Tyr368Ter) SNV Pathogenic 567672 rs1565923835 GRCh37: 12:114793790-114793790
GRCh38: 12:114355985-114355985
12 TBX5 NM_000192.3(TBX5):c.163_172del (p.Lys55fs) Deletion Pathogenic 656872 rs1593883930 GRCh37: 12:114839701-114839710
GRCh38: 12:114401896-114401905
13 TBX5 NM_000192.3(TBX5):c.926_927del (p.Asn309fs) Deletion Pathogenic 659191 rs1593847163 GRCh37: 12:114804025-114804026
GRCh38: 12:114366220-114366221
14 TBX5 NC_000012.12:g.(?_114401816)_(114401930_?)del Deletion Pathogenic 661191 GRCh37: 12:114839621-114839735
GRCh38: 12:114401816-114401930
15 TBX5 NM_000192.3(TBX5):c.362+2T>C SNV Pathogenic 665547 rs1593881162 GRCh37: 12:114837316-114837316
GRCh38: 12:114399511-114399511
16 TBX5 NM_000192.3(TBX5):c.868C>T (p.Gln290Ter) SNV Pathogenic 569967 rs1565927747 GRCh37: 12:114804084-114804084
GRCh38: 12:114366279-114366279
17 TBX5 NM_181486.4(TBX5):c.154G>T (p.Glu52Ter) SNV Pathogenic 835086 GRCh37: 12:114839719-114839719
GRCh38: 12:114401914-114401914
18 TBX5 NM_181486.4(TBX5):c.727del (p.Glu243fs) Deletion Pathogenic 846539 GRCh37: 12:114823309-114823309
GRCh38: 12:114385504-114385504
19 TBX5 NM_181486.4(TBX5):c.663+1G>A SNV Pathogenic 849438 GRCh37: 12:114832545-114832545
GRCh38: 12:114394740-114394740
20 TBX5 NM_000192.3(TBX5):c.593dup (p.Asn198fs) Duplication Pathogenic 633726 GRCh37: 12:114832615-114832616
GRCh38: 12:114394810-114394811
21 TBX5 NM_181486.4(TBX5):c.239G>A (p.Gly80Glu) SNV Pathogenic 861408 GRCh37: 12:114839634-114839634
GRCh38: 12:114401829-114401829
22 TBX5 NM_181486.4(TBX5):c.246del (p.Met83fs) Deletion Pathogenic 862164 GRCh37: 12:114837434-114837434
GRCh38: 12:114399629-114399629
23 TBX5 NM_181486.4(TBX5):c.69del (p.Cys24fs) Deletion Pathogenic 857821 GRCh37: 12:114841635-114841635
GRCh38: 12:114403830-114403830
24 TBX5 NC_000012.12:g.(?_114394721)_(114394913_?)del Deletion Pathogenic 831407 GRCh37: 12:114832526-114832718
GRCh38:
25 TBX5 NC_000012.12:g.(?_114401806)_(114401940_?)del Deletion Pathogenic 652398 GRCh37: 12:114839611-114839745
GRCh38: 12:114401806-114401940
26 SMAD6 NM_005585.5(SMAD6):c.1168_1173dup (p.Gly390_Ile391dup) Duplication Pathogenic 635569 rs1595804976 GRCh37: 15:67073547-67073548
GRCh38: 15:66781209-66781210
27 SMAD6 NM_005585.5(SMAD6):c.794del (p.His265fs) Deletion Pathogenic 590964 rs1567092071 GRCh37: 15:66996390-66996390
GRCh38: 15:66704052-66704052
28 TBX5 NM_000192.3(TBX5):c.390del (p.Met131fs) Deletion Pathogenic 577533 rs1565941046 GRCh37: 12:114836498-114836498
GRCh38: 12:114398693-114398693
29 TBX5 NC_000012.11:g.(?_114793317)_(114841723_?)del Deletion Pathogenic 477653 GRCh37: 12:114793317-114841723
GRCh38:
30 TBX5 NM_000192.3(TBX5):c.629_632dup (p.Ile212fs) Duplication Pathogenic 477658 rs1555225989 GRCh37: 12:114832576-114832577
GRCh38: 12:114394771-114394772
31 TBX5 NM_000192.3(TBX5):c.278dup (p.Leu94fs) Duplication Pathogenic 411102 rs1555226420 GRCh37: 12:114837401-114837402
GRCh38: 12:114399596-114399597
32 TBX5 NM_000192.3(TBX5):c.835C>T (p.Arg279Ter) SNV Pathogenic 213832 rs863223788 GRCh37: 12:114804117-114804117
GRCh38: 12:114366312-114366312
33 TBX5 NM_181486.4(TBX5):c.1115_1116delinsAGGCGCTCCTACA (p.Ser372Ter) Indel Pathogenic 968329 GRCh37: 12:114793778-114793779
GRCh38: 12:114355973-114355974
34 TBX5 NM_181486.4(TBX5):c.593del (p.Asn198fs) Deletion Pathogenic 944045 GRCh37: 12:114832616-114832616
GRCh38: 12:114394811-114394811
35 TBX5 NM_181486.4(TBX5):c.813_814del (p.His271fs) Microsatellite Pathogenic 957169 GRCh37: 12:114804138-114804139
GRCh38: 12:114366333-114366334
36 TBX5 NM_181486.4(TBX5):c.710G>A (p.Arg237Gln) SNV Pathogenic 7993 rs104894378 GRCh37: 12:114823326-114823326
GRCh38: 12:114385521-114385521
37 TBX5 NM_181486.4(TBX5):c.238_239delinsT (p.Ala79_Gly80insTer) Indel Pathogenic 964855 GRCh37: 12:114839634-114839635
GRCh38: 12:114401829-114401830
38 TBX5 NM_181486.4(TBX5):c.658_660del (p.His220del) Deletion Likely pathogenic 856731 GRCh37: 12:114832549-114832551
GRCh38: 12:114394744-114394746
39 TBX5 NM_181486.4(TBX5):c.756-2A>G SNV Likely pathogenic 956448 GRCh37: 12:114804198-114804198
GRCh38: 12:114366393-114366393
40 SMAD6 NM_005585.5(SMAD6):c.511G>T (p.Glu171Ter) SNV Likely pathogenic 1028402 GRCh37: 15:66996107-66996107
GRCh38: 15:66703769-66703769
41 TBX5 NM_181486.4(TBX5):c.243-1G>A SNV Likely pathogenic 855378 GRCh37: 12:114837438-114837438
GRCh38: 12:114399633-114399633
42 TBX5 NM_000192.3(TBX5):c.363-2A>G SNV Likely pathogenic 575638 rs1565941072 GRCh37: 12:114836527-114836527
GRCh38: 12:114398722-114398722
43 SMAD6 NM_005585.5(SMAD6):c.531C>G (p.Tyr177Ter) SNV Conflicting interpretations of pathogenicity 644007 rs760571406 GRCh37: 15:66996127-66996127
GRCh38: 15:66703789-66703789
44 SMAD6 NM_005585.5(SMAD6):c.413C>T (p.Pro138Leu) SNV Uncertain significance 645551 rs1595756885 GRCh37: 15:66996009-66996009
GRCh38: 15:66703671-66703671
45 SMAD6 NM_005585.5(SMAD6):c.752_754CCG[5] (p.Ala254dup) Microsatellite Uncertain significance 645791 rs774732566 GRCh37: 15:66996345-66996346
GRCh38: 15:66704007-66704008
46 SMAD6 NM_005585.5(SMAD6):c.43C>G (p.Arg15Gly) SNV Uncertain significance 648761 rs766270982 GRCh37: 15:66995639-66995639
GRCh38: 15:66703301-66703301
47 TBX5 NM_000192.3(TBX5):c.902C>G (p.Ser301Cys) SNV Uncertain significance 650528 rs973621936 GRCh37: 12:114804050-114804050
GRCh38: 12:114366245-114366245
48 SMAD6 NM_005585.5(SMAD6):c.1225C>T (p.Pro409Ser) SNV Uncertain significance 651037 rs757027884 GRCh37: 15:67073607-67073607
GRCh38: 15:66781269-66781269
49 SMAD6 NM_005585.5(SMAD6):c.1075G>C (p.Asp359His) SNV Uncertain significance 651267 rs1595804836 GRCh37: 15:67073457-67073457
GRCh38: 15:66781119-66781119
50 SMAD6 NM_005585.5(SMAD6):c.1271C>T (p.Ala424Val) SNV Uncertain significance 656719 rs371348775 GRCh37: 15:67073653-67073653
GRCh38: 15:66781315-66781315

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

72
# 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 11.66 MIR423 MIR29B1 MIR21 MIR199A1 MIR195 MIR150
4 11.48 TBX5 SPP1 BMP2
5 10.6 NPPB NPPA MYH7 BMP2
6 10.21 MIR150 MIR126

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 SPP1 NPPB NPPA MIR424 MIR423 MIR29B1

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 BMP signaling pathway GO:0030509 9.75 SMAD6 MIR21 BMP2
2 negative regulation of cell migration GO:0030336 9.73 TBX5 MIR29B1 MIR21 MIR126
3 negative regulation of vascular endothelial growth factor signaling pathway GO:1900747 9.64 MIR424 MIR199A1
4 cardiac muscle cell differentiation GO:0055007 9.64 TBX5 BMP2
5 positive regulation of endothelial cell differentiation GO:0045603 9.63 MIR21 MIR150
6 cGMP-mediated signaling GO:0019934 9.63 NPPB NPPA
7 positive regulation of fat cell differentiation GO:0045600 9.63 MIR29B1 MIR21 BMP2
8 negative regulation of cell proliferation GO:0008285 9.63 TBX5 SMAD6 MIR29B1 MIR21 MIR195 BMP2
9 regulation of the force of heart contraction GO:0002026 9.62 MYL4 MYH7
10 positive regulation of connective tissue replacement GO:1905205 9.62 MIR199A1 MIR195
11 negative regulation of angiogenesis GO:0016525 9.62 NPPB MIR424 MIR21 CNMD
12 negative regulation of cytokine-mediated signaling pathway GO:0001960 9.61 MIR29B1 MIR21
13 cardiac muscle hypertrophy in response to stress GO:0014898 9.61 NPPA MYH7
14 atrioventricular valve morphogenesis GO:0003181 9.6 TBX5 BMP2
15 negative regulation of systemic arterial blood pressure GO:0003085 9.59 NPPB NPPA
16 negative regulation of matrix metallopeptidase secretion GO:1904465 9.58 MIR29B1 MIR199A1
17 cGMP biosynthetic process GO:0006182 9.57 NPPB NPPA
18 negative regulation of oxidative stress-induced cell death GO:1903202 9.56 MIR29B1 MIR195
19 receptor guanylyl cyclase signaling pathway GO:0007168 9.55 NPPB NPPA
20 positive regulation of metalloendopeptidase activity GO:1904685 9.54 MIR29B1 MIR21
21 negative regulation of endothelial cell proliferation GO:0001937 9.54 MIR424 MIR21 CNMD
22 regulation of calcium ion transmembrane transport via high voltage-gated calcium channel GO:1902514 9.52 NPPA MIR21
23 pericardium development GO:0060039 9.51 TBX5 BMP2
24 negative regulation of metallopeptidase activity GO:1905049 9.49 MIR29B1 MIR199A1
25 proteoglycan metabolic process GO:0006029 9.48 CNMD BMP2
26 aortic valve morphogenesis GO:0003180 9.43 SMAD6 NPPA ELN
27 positive regulation of potassium ion export across plasma membrane GO:1903766 9.4 NPPA MIR21
28 gene silencing by miRNA GO:0035195 9.23 MIR424 MIR423 MIR29B1 MIR21 MIR199A1 MIR195
29 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 3'-UTR binding GO:0003730 9.35 MIR424 MIR29B1 MIR21 MIR195 MIR126
2 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.23 MIR424 MIR423 MIR29B1 MIR21 MIR199A1 MIR195
3 hormone receptor binding GO:0051427 9.16 NPPB NPPA

Sources for Aortic Valve Disease 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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