Aortic Valve Insufficiency

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

Aliases & Classifications for Aortic Valve Insufficiency

MalaCards integrated aliases for Aortic Valve Insufficiency:

Name: Aortic Valve Insufficiency 12 44 15 17 70
Aortic Regurgitation 12 54 6 15
Rheumatic Aortic Insufficiency 12 32
Rheumatic Aortic Regurgitation 12 70
Rheumatic Aortic Valve Insufficiency 12
Rheumatic Aortic Valve Regurgitation 12
Aortic Insufficiency 12
Aortic Incompetence 12
Corrigan's Disease 12


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Disease Ontology 12 DOID:57
ICD9CM 34 395.1 396.3
MeSH 44 D001022
NCIt 50 C51223
ICD10 32 I06.1 I35.1
UMLS 70 C0003504 C0155568 C0264774

Summaries for Aortic Valve Insufficiency

Disease Ontology : 12 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 marfan syndrome and endocarditis. An important gene associated with Aortic Valve Insufficiency is NPPB (Natriuretic Peptide B), and among its related pathways/superpathways are TGF-beta signaling pathway (KEGG) and Angiogenesis (CST). The drugs Metoprolol 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 : 73 Aortic insufficiency (AI), also known as aortic regurgitation (AR), 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 539)
# Related Disease Score Top Affiliating Genes
1 marfan syndrome 31.4 TGFBR2 TGFBR1 MYH11 FBN1 ELN ACTA2
2 endocarditis 31.1 TNNI3 CRP ALB
3 aortitis 31.1 SRSF6 ELN CRP
4 aortic aneurysm, familial thoracic 1 30.8 TGFBR2 TGFBR1 MYH11 GATA5 FBN1 ELN
5 atrioventricular block 30.7 TNNI3 NPPB ACE
6 angina pectoris 30.6 TNNI3 NPPB CRP ACE
7 rheumatic fever 30.6 NPPB ALB ACE
8 peripheral vascular disease 30.5 VWF CRP ALB ACE
9 mediastinitis 30.5 CRP ALB
10 pulmonary valve insufficiency 30.4 REN NPPB FBN1 CRP ACE
11 proteinuria, chronic benign 30.4 REN ALB ACE
12 mitral valve stenosis 30.4 VWF REN NPPB CRP ACE
13 syphilis 30.4 CRP ALB ACE
14 exanthem 30.4 CRP ALB ACE
15 hemopericardium 30.3 TNNI3 FBN1 ELN CRP
16 carotid stenosis 30.3 VWF REN CRP ACE
17 neuroretinitis 30.3 CRP ACE
18 coronary heart disease 1 30.3 PON1 CRP ACE
19 intracranial embolism 30.3 VWF CRP ALB ACE
20 systolic heart failure 30.3 NPPB CRP ACE
21 systemic scleroderma 30.3 FBN1 ELN CRP ACE
22 antiphospholipid syndrome 30.3 VWF PON1 CRP
23 supravalvular aortic stenosis 30.3 FBN1 ELN EFEMP2
24 eclampsia 30.3 REN ALB ACE
25 hypertensive heart disease 30.3 REN NPPB ACE
26 pulmonary edema 30.3 TNNI3 REN NPPB CRP ACE
27 kawasaki disease 30.3 NPPB CRP ALB
28 purpura 30.3 VWF CRP ACE
29 cardiac arrest 30.3 TNNI3 REN NPPB ALB ACE
30 arteries, anomalies of 30.2 TNNI3 REN MIR223 CRP ALB ACE
31 right bundle branch block 30.2 TNNI3 NPPB ACE
32 first-degree atrioventricular block 30.2 NPPB CRP ACE
33 varicose veins 30.2 VWF FBN1 ELN
34 mitral valve disease 30.2 TNNI3 REN NPPB FBN1 ELN CRP
35 renovascular hypertension 30.2 REN NPPB ACE
36 splenic abscess 30.2 CRP ALB
37 aneurysm 30.1 TGFBR2 TGFBR1 MYH11 FBN1 ELN EFEMP2
38 cardiac tamponade 30.1 TNNI3 REN NPPB CRP ALB ACE
39 facial paralysis 30.1 CRP ALB ACE
40 fabry disease 30.1 TNNI3 PON1 NPPB CRP
41 hypoplastic left heart syndrome 30.1 TNNI3 NPPB GATA5 ELN
42 aortic valve disease 2 30.1 VWF TNNI3 REN NPPB MIR223 FBN1
43 end stage renal disease 30.1 REN PON1 NPPB CRP ALB ACE
44 pericarditis 30.1 TNNI3 NPPB CRP ALB ACE
45 kidney disease 30.1 REN PON1 NPPB MIR223 CRP ALB
46 arteriosclerosis 30.0 PON1 FBN1 ELN CRP ACE
47 telangiectasis 30.0 TGFBR1 FBN1 ELN
48 sickle cell anemia 30.0 VWF CRP ALB ACE
49 nephrotic syndrome 30.0 REN PON1 CRP ALB ACE
50 aortic aneurysm 30.0 TGFBR2 TGFBR1 MYH11 FBN1 ELN EFEMP2

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 9.8 ACE ACTA2 ALB CRP EFEMP2 FBN1
2 muscle MP:0005369 9.32 ACTA2 ALB EFEMP2 FBN1 GATA5 MYH11

Drugs & Therapeutics for Aortic Valve Insufficiency

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

(show top 50) (show all 62)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
Warfarin Approved Phase 4 81-81-2 54678486 6691
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
Chlorthalidone Approved Phase 4 77-36-1 2732
Amlodipine Approved Phase 4 88150-42-9 2162
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 11128-99-7, 4474-91-3 172198
Losartan Approved Phase 4 114798-26-4 3961
Rivaroxaban Approved Phase 4 366789-02-8
9 Neurotransmitter Agents Phase 4
10 Adrenergic Antagonists Phase 4
11 Adrenergic beta-Antagonists Phase 4
12 Sympatholytics Phase 4
13 Adrenergic Agents Phase 4
14 Adrenergic beta-1 Receptor Antagonists Phase 4
15 Anti-Arrhythmia Agents Phase 4
16 Antihypertensive Agents Phase 4
17 Serine Proteinase Inhibitors Phase 4
18 Anticoagulants Phase 4
19 Antithrombin III Phase 4
protease inhibitors Phase 4
21 Antithrombins Phase 4
22 HIV Protease Inhibitors Phase 4
23 diuretics Phase 4
24 Platelet Aggregation Inhibitors Phase 4
25 Analgesics, Non-Narcotic Phase 4
26 Analgesics Phase 4
27 Cyclooxygenase Inhibitors Phase 4
28 Fibrinolytic Agents Phase 4
29 Antirheumatic Agents Phase 4
30 Antipyretics Phase 4
31 Anti-Inflammatory Agents Phase 4
32 Anti-Inflammatory Agents, Non-Steroidal Phase 4
33 Vasodilator Agents Phase 4
34 Sodium Chloride Symporter Inhibitors Phase 4
35 Giapreza Phase 4
36 Angiotensinogen Phase 4
37 calcium channel blockers Phase 4
38 Hormones Phase 4
39 Angiotensin Receptor Antagonists Phase 4
40 Calcium, Dietary Phase 4
41 Angiotensin II Type 1 Receptor Blockers Phase 4
42 Factor Xa 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
46 Complement System Proteins Phase 2
Epinephrine Approved, Vet_approved 51-43-4 5816
Racepinephrine Approved 329-65-7 838
Dobutamine Approved 34368-04-2 36811
tannic acid Approved 1401-55-4

Interventional clinical trials:

(show top 50) (show all 90)
# 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 Effect of Beta Blockade on Left Ventricular Remodeling and Function in Moderate to Severe Asymptomatic Aortic Regurgitation Completed NCT01157572 Phase 4 Metoprolol;Placebo
3 Randomized Control Study of Anticoagulation With Warfarin Por Patients With Aortic Bioprosthesis vs Aspirin Only Completed NCT03807921 Phase 4 Warfarin;Aspirin
4 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
5 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
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 Aortic Regurgitation After Surgical Repair of Outlet-Type Ventricular Septal Defect Unknown status NCT00173186
10 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
11 Reimplantation Procedure for Surgical Treatment of Ascending Aorta Aneurism With Concomitant Aortic Valve Insufficiency Unknown status NCT01456975
12 The Italian Society of Invasive Cardiology Registry on Percutaneous Aortic Valve Unknown status NCT02713932
13 Registry Study of Aortic Valve Diseases in Chinese Elderly Unknown status NCT02623907
14 Aortic Valve Regurgitation Acquired After Left Ventricular Assist Device Implantation: an Outstanding in Vivo Model of Valvular Heart Diseases Unknown status NCT03279029
15 Expiratory Flow Limitation and Mechanical Ventilation During Cardiopulmonary Bypass in Cardiac Surgery Unknown status NCT02633423
16 Persistent Diastolic Dysfunction Late After Valve Replacement in Severe Aortic Regurgitation Completed NCT00976625
17 Deutsches TAVI-Register Completed NCT02815514
18 Protocoled Quantitative Assessment of Aortic Regurgitation Using Videodensitometry in a Multicontinental Trial in Rotterdam, Montreal, Yamaguchi, Segeberg, Amsterdam. Completed NCT03644784
19 Velocity Vector Imaging in Patients With Moderate-to-Severe Aortic Regurgitation Completed NCT00624884
20 A Prospective, Non-randomized, Multi-center Trial to Evaluate the Safety and Effectiveness of the HAART Model 300 Annuloplasty Ring When Used to Surgically Repair a Leaking Aortic Valve Using a 3-D Intra-annular Mounting Frame Completed NCT01400841
21 Prospective Observation of Aortic Regurgitation After TAVI and Progress Over Time: PROGRESS PVL Registry Completed NCT02987894
22 The JenaValve" EvalUation of Long Term Performance and Safety In PaTients With SEvere Aortic Stenosis oR Aortic Insufficiency Completed NCT01598844
23 Phonokardiographie Bei Erwachsenen Completed NCT03600051
24 The HAART 300 Annuloplasty Ring Extended Safety and Performance Trial Used in Surgical Repair of the Aortic Valve Completed NCT01732835
25 HAART 200 Aortic Valve Annuloplasty During Bicuspid Aortic Valve Reconstruction Trial Completed NCT02071849
26 Investigation of Myocardial Contractile Reserve by Dobutamine Stress Transesophageal Echocardiography in Aortic and Mitral Regurgitation Completed NCT00001314
27 An Observational, Prospective Evaluation of the Trifecta Valve Completed NCT00475267
28 An Observational, Prospective Evaluation of the Trifecta Valve Completed NCT00475709
29 Long Term Follow Up Study of the St. Jude Medical Trifecta™ Valve Completed NCT01593917
30 An Observational, Prospective Evaluation of the Trifecta™ Valve Completed NCT00727181
31 Post-Approval Study Protocol of the St. Jude Medical Biocor and Biocor Supra Valves Completed NCT00636987
32 CryoValve® SG Aortic Human Heart Valve Combination Retrospective/Prospective, Multi-Center, Cohort Study Completed NCT01236469
33 Physical and Functional Recovery From Cardiac Surgery in Hospitalized Patients: A Feasibility Pilot Study Completed NCT02375282
34 Carpentier-Edwards PERIMOUNT Magna Ease Pericardial Bioprosthesis in the Aortic Position, Model 3300TFX Completed NCT01171625
35 CryoValve SG Pulmonary Human Heart Valve Post Clearance Study Completed NCT01092442
36 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
37 Superiority Trial of Aortic Root Reimplantation Procedure Versus Aortic Valve Reimplantation Procedure Completed NCT01787604
38 Hemodynamic Matched Comparison of the Balloon-Expandable Transcatheter Heart Valves Myval and Sapien-3 for the Treatment of Aortic Stenosis Completed NCT04548726
39 CardioCel Tri-leaflet Repair Study; a Prospective, Non-randomised, Single Arm, Multi-centre Clinical Investigation Completed NCT02629328
40 Enable® Aortic Sutureless Bioprosthesis Evaluation: A Post-market Release Non-interventional Study Completed NCT01720342
41 Clinical Trial of the Edwards Aortic Bioprosthesis, Model 11000 Completed NCT01651052
42 Cerebral Oxymetry at Elective Coronary and Valve Surgery: An Observational Study Using Norepinephrine to Maintain Arterial Blood Pressure on Cardio Pulmonary Bypass. Completed NCT01940874
43 Multicenter Prospective CoreValve Study Using Cardiac MRI for Assessment of Paravalvular Aortic Regurgitation and Its Impact on LV Reverse Remodeling and Cardiovascular Outcomes Completed NCT03195114
44 TriRec - Trileaflet Reconstruction of the Aortic Valve Recruiting NCT03600662
45 Changes of Aortic Flow Patterns Detected by 4D- Flow- MRI After Trileaflet Reconstruction of the Aortic Valve With Autologous Pericardium Compared to Prosthetic Valve Replacement With Biological Prosthesis Recruiting NCT04223713
46 Online Videodensitometric Assessment of Aortic Regurgitation in the Cath-Lab Recruiting NCT04047082
47 Accuracy of Left Subclavian Regurgitation Evaluated by Ultrasound Doppler and 4D Flow MRI as an Indicator of Severe Aortic Regurgitation Recruiting NCT03549091
48 A Study to Assess Safety and Probable Benefit of the Transfemoral JenaValve Pericardial TAVR System in the Treatment of High Surgical Risk Patients With Symptomatic, Severe Aortic Regurgitation (AR) Recruiting NCT04415047
49 THE ALIGN-AR TRIAL: Safety and Effectiveness/Performance of the Transfemoral JenaValve Pericardial TAVR System in the Treatment of Patients With Symptomatic Severe Aortic Regurgitation (AR) Recruiting NCT02732704
50 Transcatheter Aortic Valve Implantation With Sapien 3 Transcatheter Heart Valve for Pure Aortic Regurgitation. The S3AR Study TAVI With Sapien 3 for Pure AR. Recruiting NCT04671758

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

MalaCards organs/tissues related to Aortic Valve Insufficiency:

Heart, Brain, Liver, Endothelial, Neutrophil, Small Intestine, Kidney

Publications for Aortic Valve Insufficiency

Articles related to Aortic Valve Insufficiency:

(show top 50) (show all 8705)
# Title Authors PMID Year
B-type natriuretic peptide and left ventricular dysfunction on exercise echocardiography in patients with chronic aortic regurgitation. 61 54
17974697 2008
Distinct downregulation of C-type natriuretic peptide system in human aortic valve stenosis. 61 54
17709640 2007
Brain natriuretic peptide and the severity of aortic regurgitation: is there any correlation? 54 61
16104449 2005
Relation of N-terminal pro B-type natriuretic peptide to progression of aortic valve disease. 54 61
15781428 2005
Clinical applications of B-type natriuretic peptide levels in the care of cardiovascular patients. 54 61
15729209 2004
Elevated B-type natriuretic peptide in asymptomatic men with chronic aortic regurgitation and preserved left ventricular systolic function. 61 54
15342310 2004
Associations between plasma natriuretic peptide levels, symptoms, and left ventricular function in patients with chronic aortic regurgitation. 54 61
12972129 2003
Sutureless aortic valves in elderly patients with aortic stenosis and intermediate-risk profile. 61
33633045 2021
Paravalvular leak closure: Still a challenge with unpredictable results. 61
33648808 2021
Syphilitic aortitis: chronic left coronary ostial occlusion and aortic regurgitation with aortitis. 61
33098530 2021
Presence of fragmented QRS is associated with left ventricular systolic dysfunction after surgery in patients with severe aortic regurgitation. 61
33484185 2021
Elevated C-reactive protein is significantly associated with left ventricular dysfunction in patients with aortic regurgitation and concomitant collagen disease. 61
33359278 2021
Transcatheter aortic valve implantation using J-Valve in an elderly patient with severe aortic regurgitation. 61
33797796 2021
Acute aortic regurgitation underestimated by transesophageal echocardiography after preparatory balloon aortic valvuloplasty during transcatheter aortic valve implantation for severe aortic stenosis. 61
33792843 2021
Durability and Performance of 2298 Trifecta Aortic Valve Prostheses: A Propensity-Matched Analysis. 61
33011168 2021
Surgical repair of ruptured sinus of Valsalva aneurysm: 13-year single center experience. 61
33476446 2021
First-in-Human Use of the Next-generation ProtEmbo Cerebral Embolic Protection System During Transcatheter Aortic Valve-in-valve Implantation. 61
33786063 2021
Non-contrast transesophageal echo-guided transapical transcatheter aortic valve replacement: 10-year experience of a renoprotective strategy. 61
33792711 2021
African American-Caucasian American differences in aortic valve replacement in patients with severe aortic stenosis. 61
33453161 2021
The prognostic value of immediate post-TAVI hemodynamic evaluation is superior to aortography and transoesophageal echocardiography in predicting patient survival. 61
33359335 2021
Bicuspid Aortic Valve Repair: Causes of Valve Failure and Long-Term Outcomes. 61
32599047 2021
Recurrent germline mutations as genetic markers for aortic root dilatation in bicuspid aortic valve patients. 61
33064175 2021
Huge Mycotic Aneurysm at the Celiac Trunk in a Patient With Severe Aortic Regurgitation Due to Infective Endocarditis. 61
33790145 2021
Complex transcatheter aortic valve replacement in aortic regurgitation and transcatheter mitral annuloplasty in severe dextrocardia. 61
33709153 2021
Acute Aortic Regurgitation Due to Endocarditis Caused by Disseminated Gonococcal Infection: A Case Report. 61
32976354 2021
Aortic Acceleration Time and the Intraoperative Assessment of Aortic Stenosis. 61
33250431 2021
Elective versus urgent in-hospital transcatheter aortic valve implantation. 61
33713533 2021
Transthoracic echocardiography monitoring during atrial septal defect and ventricular septal defect device closures using a three-dimensional printed transducer holder. 61
33770054 2021
Correlation between activated clotting time monitoring and heparin concentration measurement in a patient with antiphospholipid syndrome during cardiac valve surgery: a case report. 61
33715057 2021
Severe Eccentric Aortic Regurgitation: An Unusual Manifestation of Disease Progression Resulting From Leaflet Prolapse, Perforation, Destruction, or Vegetation? 61
32651037 2021
Inter-operative determination of the aortic root and cusp geometry associated with the aortic regurgitation grade. 61
32776293 2021
Online Quantitative Aortography Assessment of Aortic Regurgitation After TAVR: Let There Be Light Among Shades of Grey. 61
33582088 2021
Bailed out by TEVAR in a horrendous bleeding aortic arch cannulation site. 61
33743256 2021
Online Quantitative Aortographic Assessment of Aortic Regurgitation After TAVR: Results of the OVAL Study. 61
33582086 2021
Bioprosthetic or native aortic scallop intentional laceration to prevent iatrogenic coronary artery obstruction technique in transcatheter aortic valve-in-valve procedures: a single-center initial experience. 61
32890234 2021
Predicting TAVI paravalvular regurgitation outcomes based on numerical simulation of the aortic annulus eccentricity and perivalvular areas. 61
33779444 2021
Prognostic significance of vascular and valvular calcifications in low- and high-gradient aortic stenosis. 61
33693609 2021
Valvular changes after aortic valve neo-cuspidization in children: A case series. 61
33657683 2021
Surgical Management of a Giant Left Sinus of Valsalva Aneurysm with Coronary Artery Abnormality. 61
33798042 2021
Multimodality evaluation of transcatheter structural valve degeneration at long-term follow-up. 61
32278660 2021
Serial echocardiography for valve dysfunction and aortic dilation in bicuspid aortic valves. 61
33586263 2021
Incidence and predictors of prosthesis-patient mismatch after TAVI using SAPIEN 3 in Asian: differences between the newer and older balloon-expandable valve. 61
33737333 2021
Effect of Diastolic Flow Reversal Patterns on Clinical Outcomes Following Transcatheter Aortic Valve Implantation - An Intraprocedural Echocardiography Study. 61
33762527 2021
Aortic Regurgitation Is Associated With Ascending Aortic Remodeling in the Nondilated Aorta. 61
33441026 2021
Left Ventricular Longitudinal Strain in Characterization and Outcome Assessment of Mixed Aortic Valve Disease Phenotypes. 61
33744141 2021
Fate of mild-to-moderate bicuspid aortic valve disease untreated during ascending aorta replacement. 61
33651397 2021
Quantification of diffuse myocardial fibrosis using CMR extracellular volume fraction and serum biomarkers of collagen turnover with histologic quantification as standard of reference. 61
32830084 2021
Aortic Regurgitation in Marfan Syndrome Patients Who Underwent Prophylactic Surgery: A Single-Center Experience. 61
33770052 2021
Transcatheter or surgical aortic valve implantation in chronic dialysis patients: a German Aortic Valve Registry analysis. 61
32965556 2021
A Dilemma in the Extremely Low-Placed Venus A-Valve in a Cardiogenic Shock Patient. 61
33798053 2021

Variations for Aortic Valve Insufficiency

ClinVar genetic disease variations for Aortic Valve Insufficiency:

# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FBN1 NM_000138.4(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

Pathways related to Aortic Valve Insufficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.41 TGFBR2 TGFBR1 FBN1
2 11.28 VWF TGFBR1 REN
Show member pathways

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 9.65 VWF REN PON1 NPPB FBN1 ELN
2 extracellular space GO:0005615 9.4 VWF REN PON1 NPPB MIR374B MIR223
3 microfibril GO:0001527 9.26 FBN1 EFEMP2
4 elastic fiber GO:0071953 9.16 ELN EFEMP2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.8 TGFBR1 MIR223 GATA5 CRP ACTA2
2 heart development GO:0007507 9.62 TNNI3 TGFBR2 TGFBR1 FBN1
3 amyloid-beta metabolic process GO:0050435 9.49 REN ACE
4 pathway-restricted SMAD protein phosphorylation GO:0060389 9.48 TGFBR2 TGFBR1
5 response to cholesterol GO:0070723 9.46 TGFBR2 TGFBR1
6 angiotensin maturation GO:0002003 9.43 REN ACE
7 elastic fiber assembly GO:0048251 9.37 MYH11 EFEMP2
8 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.26 TGFBR2 TGFBR1
9 kidney development GO:0001822 9.26 TGFBR1 REN FBN1 ACE
10 endocardial cushion fusion GO:0003274 9.16 TGFBR2 GATA5
11 regulation of blood pressure GO:0008217 8.92 REN NPPB ACTA2 ACE

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.26 TGFBR2 TGFBR1
2 extracellular matrix constituent conferring elasticity GO:0030023 9.16 FBN1 ELN
3 transforming growth factor beta-activated receptor activity GO:0005024 8.96 TGFBR2 TGFBR1
4 extracellular matrix structural constituent GO:0005201 8.92 VWF FBN1 ELN EFEMP2

Sources for Aortic Valve Insufficiency

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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