Aortic Valve Insufficiency

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

MalaCards integrated aliases for Aortic Valve Insufficiency:

Name: Aortic Valve Insufficiency 11 43 14 16 71 33
Aortic Regurgitation 11 53 5 14 75
Rheumatic Aortic Regurgitation 11 71 33
Rheumatic Aortic Valve Insufficiency 11 33
Rheumatic Aortic Insufficiency 11 31
Aortic Insufficiency 11 33
Myxomatous Aortic Valve Regurgitation 33
Rheumatic Ai - [aortic Insufficiency] 33
Rheumatic Aortic Valve Regurgitation 11
Annular Incompetency of Aortic Valve 33
Calcific Aortic Valve Regurgitation 33
Rheumatic Aortic Incompetence 33
Ar - [aortic Regurgitation] 33
Ai - [aortic Incompetence] 33
Aortic Valve Incompetency 33
Incompetent Aortic Valve 33
Aortic Incompetence 11
Austin Flint Murmur 33
Corrigan's Disease 11
Flint Murmur 33


External Ids:

Disease Ontology 11 DOID:57
ICD9CM 34 395.1 396.3
MeSH 43 D001022
NCIt 49 C51223
ICD10 31 I06.1 I35.1
UMLS 71 C0003504 C0155568 C0264774

Summaries for Aortic Valve Insufficiency

Disease Ontology: 11 An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle.

MalaCards based summary: Aortic Valve Insufficiency, also known as aortic regurgitation, is related to endocarditis and aortitis. An important gene associated with Aortic Valve Insufficiency is NPPB (Natriuretic Peptide B), and among its related pathways/superpathways are TGF-beta receptor signaling activates SMADs and Angiogenesis (CST). The drugs Rivaroxaban and Warfarin have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and liver, and related phenotypes are cardiovascular system and muscle

Wikipedia: 75 Aortic regurgitation (AR), also known as aortic insufficiency (AI), is the leaking of the aortic valve... more...

Related Diseases for Aortic Valve Insufficiency

Diseases in the Aortic Valve Insufficiency family:

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

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

(show top 50) (show all 761)
# Related Disease Score Top Affiliating Genes
1 endocarditis 31.0 TNNI3 F2 CRP ALB
2 aortitis 30.9 SRSF6 FBN1 ELN CRP
3 tricuspid valve stenosis 30.8 NPPB F3
4 heart septal defect 30.8 NPPB GATA5 F3 F2 CRP
5 aortic valve disease 2 30.7 VWF TNNI3 REN NPPB MIR374B FBN1
6 atrioventricular block 30.6 TNNI3 NPPB CRP ACE
7 rheumatic fever 30.6 NPPB ALB ACE
8 marfan syndrome 30.6 TGFBR2 TGFBR1 FBN1 ELN ACTA2
9 pulmonary valve insufficiency 30.5 REN NPPB FBN1 CRP ACE
10 ehlers-danlos syndrome, vascular type 30.5 FBN1 ELN ACTA2
11 syphilis 30.4 CRP ALB ACE
12 rheumatic heart disease 30.4 NPPB ELN ACE
13 rheumatic myocarditis 30.4 TNNI3 MIR374B CRP
14 infective endocarditis 30.4 VWF NPPB F3 F2 CRP ALB
15 carotid stenosis 30.3 VWF REN CRP ACE
16 aortic dissection 30.3 TGFBR1 FBN1 ELN CRP ALB ACTA2
17 acquired von willebrand syndrome 30.3 VWF F3 F2
18 kawasaki disease 30.3 NPPB ELN CRP
19 fabry disease 30.3 TNNI3 PON1 NPPB CRP
20 libman-sacks endocarditis 30.3 F2 CRP
21 angiodysplasia 30.3 VWF F3 F2
22 pneumothorax 30.3 FBN1 ELN CRP
23 pericarditis 30.3 TNNI3 NPPB CRP ACE
24 supravalvular aortic stenosis 30.3 FBN1 ELN ACTA2
25 rapidly progressive glomerulonephritis 30.3 REN CRP ALB ACE
26 glomerulonephritis 30.3 REN CRP ALB ACE
27 coronary heart disease 1 30.3 PON1 CRP ACE
28 third-degree atrioventricular block 30.3 TNNI3 REN NPPB CRP ACE
29 buerger disease 30.3 MIR223 F2 CRP
30 subclavian steal syndrome 30.2 F3 F2 CRP ACE
31 nonbacterial thrombotic endocarditis 30.2 VWF F3 F2 CRP
32 cardiac arrest 30.2 TNNI3 NPPB CRP ACE
33 pulmonary edema 30.1 TNNI3 REN NPPB F2 CRP ACE
34 right bundle branch block 30.1 TNNI3 NPPB CRP ACE
35 antiphospholipid syndrome 30.1 VWF PON1 F3 F2 CRP
36 bell's palsy 30.1 CRP ALB ACE
37 coronary aneurysm 30.1 NPPB F3 CRP ALB ACE
38 mediastinitis 30.1 F3 F2 CRP ALB ACE
39 atherosclerosis susceptibility 30.1 VWF PON1 F3 ELN CRP ALB
40 facial paralysis 30.1 CRP ALB ACE
41 bronchiectasis 30.1 ELN CRP ALB
42 tricuspid valve prolapse 30.1 TGFBR2 TGFBR1 FBN1
43 lipid metabolism disorder 30.1 REN PON1 MIR223 CRP ALB ACE
44 hypoplastic left heart syndrome 30.1 TNNI3 NPPB GATA5 ELN ACE
45 varicose veins 30.1 VWF FBN1 F2 ELN
46 congestive heart failure 30.1 VWF TNNI3 REN NPPB ALB ACE
47 autosomal dominant polycystic kidney disease 30.1 REN CRP ALB ACE
48 exanthem 30.0 F3 F2 CRP ALB ACE
49 hemophilia b 30.0 VWF F3 F2
50 vascular disease 30.0 VWF PON1 FBN1 F3 F2 ELN

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

Aortic Valve Disease 1 Familial Atrial Fibrillation
Heart Disease Rheumatic Heart Disease
Tricuspid Valve Disease

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

Diseases related to Aortic Valve Insufficiency

Symptoms & Phenotypes for Aortic Valve Insufficiency

MGI Mouse Phenotypes related to Aortic Valve Insufficiency:

# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.06 ACE ACTA2 ALB CRP ELN F2
2 muscle MP:0005369 10.03 ACTA2 ALB ELN F2 F3 FBN1
3 immune system MP:0005387 9.77 ACE ALB CRP F2 F3 FBN1
4 respiratory system MP:0005388 9.23 ELN F2 F3 FBN1 MIR223 TGFBR1

Drugs & Therapeutics for Aortic Valve Insufficiency

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

(show top 50) (show all 65)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Rivaroxaban Approved Phase 4 366789-02-8 9875401
Warfarin Approved Phase 4 81-81-2, 129-06-6 54678486
Acetylsalicylic acid Approved, Vet_approved Phase 4 50-78-2 2244
Amlodipine Approved Phase 4 88150-42-9 2162
Losartan Approved Phase 4 114798-26-4 3961
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 11128-99-7, 4474-91-3 172198
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
Chlorthalidone Approved Phase 4 77-36-1 2732
9 HIV Protease Inhibitors Phase 4
10 Serine Proteinase Inhibitors Phase 4
11 Antithrombins Phase 4
12 Antithrombin III Phase 4
protease inhibitors Phase 4
14 Factor Xa Inhibitors Phase 4
15 Platelet Aggregation Inhibitors Phase 4
16 diuretics Phase 4
17 Analgesics Phase 4
18 Antirheumatic Agents Phase 4
19 Fibrinolytic Agents Phase 4
20 Antipyretics Phase 4
21 Cyclooxygenase Inhibitors Phase 4
22 Anticoagulants Phase 4
23 Anti-Inflammatory Agents, Non-Steroidal Phase 4
24 Analgesics, Non-Narcotic Phase 4
25 Anti-Inflammatory Agents Phase 4
26 Calcium, Dietary Phase 4
27 Hormones Phase 4
28 Anti-Arrhythmia Agents Phase 4
29 Antihypertensive Agents Phase 4
Angiotensinogen Phase 4 16133225
31 Angiotensin Receptor Antagonists Phase 4
32 Angiotensin II Type 1 Receptor Blockers Phase 4
33 Vasodilator Agents Phase 4
34 calcium channel blockers Phase 4
35 Giapreza Phase 4
36 Neurotransmitter Agents Phase 4
37 Adrenergic beta-1 Receptor Antagonists Phase 4
38 Adrenergic Antagonists Phase 4
39 Adrenergic Agents Phase 4
40 Sympatholytics Phase 4
41 Sodium Chloride Symporter Inhibitors Phase 4
Serine Investigational, Nutraceutical Phase 4 56-45-1 5951
Calcium Nutraceutical Phase 4 7440-70-2 271
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 3 439-14-5 3016
Valsartan Approved, Investigational Phase 2 137862-53-4 60846
46 Complement System Proteins Phase 2
47 Sacubitril and valsartan sodium hydrate drug combination Phase 2
Dobutamine Approved 34368-04-2 36811
Norepinephrine Approved 51-41-2 439260
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337

Interventional clinical trials:

(show top 50) (show all 107)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 Randomized Control Study of Anticoagulation With Warfarin Por Patients With Aortic Bioprosthesis vs Aspirin Only Completed NCT03807921 Phase 4 Warfarin;Aspirin
4 Effect of Beta Blockade on Left Ventricular Remodeling and Function in Moderate to Severe Asymptomatic Aortic Regurgitation Completed NCT01157572 Phase 4 Metoprolol;Placebo
5 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
6 Conservative Aortic Valve Surgery for Aortic Insufficiency and Aneurysms of the Aortic Root Completed NCT00478803 Phase 3
7 Clinical Investigation of the Freedom SOLO Stentless Heart Valve in North America Completed NCT01115907 Phase 3
8 Safety and Efficacy of TP10, a Complement Inhibitor, in Adult Women Undergoing Cardiopulmonary Bypass Surgery Completed NCT00082121 Phase 2 TP10
9 Multicenter, Randomized, Open-label Trial to Assess the Efficacy of Sacubitril/Valsartan vs. Amlodipine/Losartan on Left Ventricular Remodeling in Patients With Chronic Severe Aortic Regurgitation Recruiting NCT05212597 Phase 2 Sacubitril-valsartan;Amlodipine-losartan
10 Reimplantation Procedure for Surgical Treatment of Ascending Aorta Aneurism With Concomitant Aortic Valve Insufficiency Unknown status NCT01456975
11 Pilot Trial: Comparison of Flow Patterns. Is There a Difference Between sewed-in and "Sutureless" Bioprosthetic Aortic Heart Valves? Unknown status NCT02288871
12 Registry Study of Aortic Valve Diseases in Chinese Elderly Unknown status NCT02623907
13 The Italian Society of Invasive Cardiology Registry on Percutaneous Aortic Valve Unknown status NCT02713932
14 Online Videodensitometric Assessment of Aortic Regurgitation in the Cath-Lab Unknown status NCT04047082
15 Aortic Regurgitation After Surgical Repair of Outlet-Type Ventricular Septal Defect Unknown status NCT00173186
16 Transcatheter Aortic Valve Implantation With Sapien 3 Transcatheter Heart Valve for Pure Aortic Regurgitation. The S3AR Study TAVI With Sapien 3 for Pure AR. Unknown status NCT04671758
17 A Prospective, Multicenter, Single-armed Trial That Aims to Evaluate the Safety and Efficacy of Transcatheter Artificial Aortic Valve and Transcatheter Artificial Heart Values Delivery System Unknown status NCT03788590
18 The Effect of Transcatheter Aortic Valve Replacement With Extracorporeal Life System Support to Cure Aortic Stenosis/Regurgitation Patients Unknown status NCT04160624
19 Aortic Valve Regurgitation Acquired After Left Ventricular Assist Device Implantation: an Outstanding in Vivo Model of Valvular Heart Diseases Unknown status NCT03279029
20 Expiratory Flow Limitation and Mechanical Ventilation During Cardiopulmonary Bypass in Cardiac Surgery Unknown status NCT02633423
21 Efficacy and Safety Evaluation for The Interventional Aortic Valve Bioprosthesis and Delivery System in Patients With Severe Aortic Stenosis and/or Aortic Regurgitation With Elevated Surgical Risk Unknown status NCT03025971
22 An Observational, Prospective Evaluation of the Trifecta™ Valve Completed NCT00727181
23 An Observational, Prospective Evaluation of the Trifecta Valve Completed NCT00475267
24 Post-Approval Study Protocol of the St. Jude Medical Biocor and Biocor Supra Valves Completed NCT00636987
25 An Observational, Prospective Evaluation of the Trifecta Valve Completed NCT00475709
26 Investigation of Myocardial Contractile Reserve by Dobutamine Stress Transesophageal Echocardiography in Aortic and Mitral Regurgitation Completed NCT00001314
27 Protocoled Quantitative Assessment of Aortic Regurgitation Using Videodensitometry in a Multicontinental Trial in Rotterdam, Montreal, Yamaguchi, Segeberg, Amsterdam. Completed NCT03644784
28 Short-term Clinical Follow-up of the Vascular Closure Device MANTATM in Minimally Invasive Cardiac Surgery Completed NCT04802200
29 Long Term Follow Up Study of the St. Jude Medical Trifecta™ Valve Completed NCT01593917
30 Deutsches TAVI-Register Completed NCT02815514
31 Clinical Trial of the Edwards Aortic Bioprosthesis, Model 11000 Completed NCT01651052
32 CryoValve SG Pulmonary Human Heart Valve Post Clearance Study Completed NCT01092442
33 CryoValve® SG Aortic Human Heart Valve Combination Retrospective/Prospective, Multi-Center, Cohort Study Completed NCT01236469
34 Biomarkers in Aortic Stenosis, Hypertrophic Cardiomyopathy, Mitral Regurgitation, Aortic Regurgitation, Prosthetic Heart Valve Dysfunction, and Tricuspid Regurgitation From Pacemaker Leads Study Completed NCT01334801
35 Superiority Trial of Aortic Root Reimplantation Procedure Versus Aortic Valve Reimplantation Procedure Completed NCT01787604
36 Enable® Aortic Sutureless Bioprosthesis Evaluation: A Post-market Release Non-interventional Study Completed NCT01720342
37 Carpentier-Edwards PERIMOUNT Magna Ease Pericardial Bioprosthesis in the Aortic Position, Model 3300TFX Completed NCT01171625
38 Investigation of Patients With BAV Requiring Valve and/or Aortic Repair. Correlation of Surgical and ECO Distinctive Features With Histologic and Genetic Findings in Phenotypically Homogeneous Outlier Cases (GISSI VAR) Completed NCT02283970
39 CardioCel Tri-leaflet Repair Study; a Prospective, Non-randomised, Single Arm, Multi-centre Clinical Investigation Completed NCT02629328
40 HAART 200 Aortic Valve Annuloplasty During Bicuspid Aortic Valve Reconstruction Trial Completed NCT02071849
41 Cerebral Oxymetry at Elective Coronary and Valve Surgery: An Observational Study Using Norepinephrine to Maintain Arterial Blood Pressure on Cardio Pulmonary Bypass. Completed NCT01940874
42 Multi-CenTer Experience With the Rapid Deployment EDWARDS INTUITY Valve System FOR Aortic Valve ReplaceMent Completed NCT01700439
43 Prospective Observation of Aortic Regurgitation After TAVI and Progress Over Time: PROGRESS PVL Registry Completed NCT02987894
44 Phonokardiographie Bei Erwachsenen Completed NCT03600051
45 The JenaValve" EvalUation of Long Term Performance and Safety In PaTients With SEvere Aortic Stenosis oR Aortic Insufficiency Completed NCT01598844
46 Physical and Functional Recovery From Cardiac Surgery in Hospitalized Patients: A Feasibility Pilot Study Completed NCT02375282
47 Velocity Vector Imaging in Patients With Moderate-to-Severe Aortic Regurgitation Completed NCT00624884
48 Persistent Diastolic Dysfunction Late After Valve Replacement in Severe Aortic Regurgitation Completed NCT00976625
49 Cardiac T1 Mapping Enables Risk Prediction of LV Dysfunction After Surgery for Aortic Regurgitation Completed NCT05332184
50 Long-term Outcome Following Transcatheter Para-Valvular Leak Closures: An International Retrospective Multicenter Registry Completed NCT05117359

Search NIH Clinical Center for Aortic Valve Insufficiency

Cochrane evidence based reviews: aortic valve insufficiency

Genetic Tests for Aortic Valve Insufficiency

Anatomical Context for Aortic Valve Insufficiency

Organs/tissues related to Aortic Valve Insufficiency:

MalaCards : Heart, Brain, Liver, Kidney, Lung, Lymph Node, Smooth Muscle

Publications for Aortic Valve Insufficiency

Articles related to Aortic Valve Insufficiency:

(show top 50) (show all 13032)
# Title Authors PMID Year
B-type natriuretic peptide and left ventricular dysfunction on exercise echocardiography in patients with chronic aortic regurgitation. 53 62
17974697 2008
Distinct downregulation of C-type natriuretic peptide system in human aortic valve stenosis. 53 62
17709640 2007
Brain natriuretic peptide and the severity of aortic regurgitation: is there any correlation? 53 62
16104449 2005
Relation of N-terminal pro B-type natriuretic peptide to progression of aortic valve disease. 53 62
15781428 2005
Clinical applications of B-type natriuretic peptide levels in the care of cardiovascular patients. 53 62
15729209 2004
Elevated B-type natriuretic peptide in asymptomatic men with chronic aortic regurgitation and preserved left ventricular systolic function. 53 62
15342310 2004
Associations between plasma natriuretic peptide levels, symptoms, and left ventricular function in patients with chronic aortic regurgitation. 53 62
12972129 2003
Commentary: Moderate aortic regurgitation at the time of surgery: Just don't do it. 62
33563423 2022
Impact of progressive aortic regurgitation on outcomes after left ventricular assist device implantation. 62
35737119 2022
Commentary: Does untreated associated moderate aortic regurgitation have no impact on long-term outcomes if major lesion is fixed? 62
33612295 2022
Rare Presentation of Sinus of Valsalva Aneurysm Treated by Aortic Valve Reimplantation Technique. 62
34673519 2022
A Five-Leaf Clover or an Exceptionally Rare Cause of Severe Aortic Insufficiency? 62
36038442 2022
Impact of aortic valve effective height following valve-sparing root replacement on postoperative insufficiency and reoperation. 62
35659124 2022
Quantifying Valve Regurgitation Using 3-D Doppler Ultrasound Images and Deep Learning. 62
36315529 2022
A tailored strategy for repair of acute type A aortic dissection. 62
33558116 2022
A Novel Inflammation-Based Risk Score Predicts Mortality in Acute Type A Aortic Dissection Surgery: The Additive Anti-inflammatory Action for Aortopathy and Arteriopathy Score. 62
36185465 2022
Prognostic value of diastolic function parameters in significant aortic regurgitation: the role of the left atrial strain. 62
35579751 2022
Transthoracic echocardiographic assessment of cardiac valves in patients with Behçet's disease. 62
36460877 2022
Heavy Calcification of Left Atrium and Calcific Mass on Mitral Valve: An Unusual Presentation of Ankylosing Spondylitis. 62
35976239 2022
Fate of moderate aortic regurgitation after cardiac surgery. 62
33610367 2022
Anatomical and Clinical Factors Associated With Valvulopathy and Aortopathy in Mexican Patients With Bicuspid Aortic Valves. 62
36163051 2022
Isometric Exercise Increases the Diameter of the Ascending Aorta in Youth with Bicuspid Aortic Valves. 62
35768732 2022
Staging cardiac damage in patients with aortic regurgitation. 62
36445657 2022
Transcatheter Aortic Valve Replacement for Severe Symptomatic Aortic Stenosis in Rheumatic Heart Disease: A Systematic Review. 62
36201243 2022
Long-term outcomes of mini-sternotomy versus conventional sternotomy for aortic valve replacement: a randomised controlled trial. 62
36394261 2022
Valve-Related Complications in TAVI Leading to Emergent Cardiac Surgery. 62
36446625 2022
Long-term outcomes of primary aortic valve repair for isolated congenital aortic stenosis in children. 62
35430079 2022
Successful drainage of periaortic graft abscess and transcatheter aortic valve replacement in the same setting-A hybrid approach. 62
36116057 2022
Long-term outcomes and prognostic factors after aortic valve surgery in patients with Takayasu arteritis. 62
36417115 2022
Physical activity and exercise recommendations for patients with valvular heart disease. 62
35236765 2022
Haemodynamic performance and clinical outcomes of transcatheter aortic valve replacement with the self-expanding ACURATE neo2. 62
35678222 2022
Phospholipase Cε Insufficiency Causes Ascending Aortic Aneurysm and Dissection. 62
36367690 2022
Exercise echocardiography for a differential diagnosis in a patient with radiation-induced heart disease: A case report. 62
36312775 2022
Left ventricular remodelling in bicuspid aortic valve disease. 62
34966913 2022
Prevalence and Prognostic Implications of Moderate or Severe Mitral Regurgitation in Patients with Bicuspid Aortic Valve. 62
36332801 2022
Sex Differences in Aortopathy and Valve Diseases Among Patients Undergoing Cardiac Surgical Procedure. 62
35271843 2022
Diastolic versus Systolic Left Ventricular Dysfunction as Independent Predictors for Unfavorable Postoperative Evolution in Patients with Aortic Regurgitation Undergoing Aortic Valve Replacement. 62
36422215 2022
Fifteen-year experience with the Tirone David procedure in bicuspid aortic valve: A safe option. 62
36124422 2022
Update on the Practical Role of Echocardiography in Selection, Implantation, and Management of Patients Requiring Left Ventricular Assist Device Therapy. 62
35984555 2022
Functional Mitral Regurgitation After Aortic Valve Replacement in Aortic Incompetence: Another piece to the puzzle. 62
35965229 2022
Mitral Annulus Geometry and Dynamic Motion Changes in Patients With Aortic Regurgitation: A Three-Dimensional Transesophageal Echocardiographic Study. 62
35811278 2022
Redo heart transplantation in a high-risk patient due to severe aortic regurgitation and accompanying right ventricular failure after LVAD implantation and temporary RVAD support. 62
36321720 2022
Aortic Regurgitation Requiring Unplanned Surgery following Transcatheter Closure of Ventricular Septal Defect in Children: Incidence and Risk Factors. 62
36413978 2022
Multimodality Imaging in a Case of Muscular Outlet Ventricular Septal Defect With Aortic Regurgitation due to Right Sinus of Valsalva Aneurysm Herniation. 62
36000391 2022
Managing uncertainty in decision-making of common congenital cardiac defects. 62
36300500 2022
Reconstruction of aortic sinus using patches in patients with acute type A aortic dissection. 62
36403278 2022
Severe aortic regurgitation from aortic valve perforation in Libman-Sacks endocarditis: Incremental value of 3D TEE. 62
36354009 2022
Emergent Off-Label TAVR for Native Aortic Valve Endocarditis. 62
36318462 2022
A rare delayed complication after TAVR: Acute severe aortic insufficiency. 62
36073090 2022
Outcomes of surgical bioprosthetic aortic valve replacement for aortic insufficiency. 62
36272966 2022

Variations for Aortic Valve Insufficiency

ClinVar genetic disease variations for Aortic Valve Insufficiency:

# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FBN1 NM_000138.5(FBN1):c.139G>A (p.Gly47Ser) SNV Uncertain Significance
200029 rs762400500 GRCh37: 15:48936828-48936828
GRCh38: 15:48644631-48644631

Expression for Aortic Valve Insufficiency

Search GEO for disease gene expression data for Aortic Valve Insufficiency.

Pathways for Aortic Valve Insufficiency

GO Terms for Aortic Valve Insufficiency

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.02 ACE ALB CRP ELN F2 F3
2 extracellular space GO:0005615 9.7 VWF REN PON1 NPPB MIR374B MIR223
3 transforming growth factor beta ligand-receptor complex GO:0070021 9.46 TGFBR2 TGFBR1

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 10.22 TGFBR1 MIR223 GATA5 F3 CRP ACTA2
2 kidney development GO:0001822 9.95 TGFBR1 REN FBN1 ACE
3 heart development GO:0007507 9.81 TNNI3 TGFBR2 TGFBR1 GATA5 FBN1
4 regulation of wound healing GO:0061041 9.76 SRSF6 ACTA2
5 endocardial cushion fusion GO:0003274 9.67 GATA5 TGFBR2
6 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.62 TGFBR1 TGFBR2
7 angiogenesis involved in coronary vascular morphogenesis GO:0060978 9.56 TGFBR1 ACE
8 regulation of multicellular organismal process GO:0051239 9.43 TGFBR2 TGFBR1
9 hemostasis GO:0007599 9.26 VWF F3 F2
10 regulation of blood pressure GO:0008217 9.23 REN NPPB ACTA2 ACE

Sources for Aortic Valve Insufficiency

8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
27 GO
28 GTR
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
36 LifeMap
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
70 Tocris
72 UMLS via Orphanet
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