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MCID: ART018
MIFTS: 47

Aortic Valve Insufficiency

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Drugs
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Aliases & Classifications for Aortic Valve Insufficiency

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MalaCards integrated aliases for Aortic Valve Insufficiency:

Name: Aortic Valve Insufficiency 12 44 15 73
Aortic Regurgitation 12 29 55 6 15
Rheumatic Aortic Regurgitation 12 73
Rheumatic Aortic Valve Insufficiency 12
Rheumatic Aortic Valve Regurgitation 12
Rheumatic Aortic Insufficiency 12
Aortic Insufficiency 12
Aortic Incompetence 12
Corrigan's Disease 12

Classifications:

MalaCards categories:
Global: Fetal diseases Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Blood diseases Respiratory diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:57
ICD10 33 I06.1 I35.1
ICD9CM 35 395.1 396.3
MeSH 44 D001022
SNOMED-CT 68 60234000 78031003
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Summaries for Aortic Valve Insufficiency

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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 aortic aneurysm and mitral valve insufficiency. An important gene associated with Aortic Valve Insufficiency is NPPB (Natriuretic Peptide B). The drugs Angiotensin II and Losartan have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and kidney.

Wikipedia : 76 Aortic insufficiency (AI), also known as aortic regurgitation (AR), is the leaking of the aortic valve... more...

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Related Diseases for Aortic Valve Insufficiency

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Diseases in the Aortic Valve Insufficiency family:

Aortic Valve Disease 1 Aortic Valve Disease 2
Congenital Aortic Valve Insufficiency

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

(show top 50) (show all 193)
# Related Disease Score Top Affiliating Genes
1 aortic aneurysm 30.2 ELN FBN1 NOTCH1
2 mitral valve insufficiency 30.0 ACE FBN1 NPPB
3 tricuspid valve insufficiency 30.0 FBN1 NPPB
4 arteries, anomalies of 30.0 ACE NPPB PON1
5 patent ductus arteriosus 1 30.0 NKX2-6 NPPB
6 coronary artery anomaly 30.0 ACE NPPB PON1
7 left bundle branch hemiblock 30.0 ACE NPPB
8 aortic atherosclerosis 30.0 ACE PON1
9 connective tissue disease 29.9 ACE ELN FBN1
10 aortic valve disease 2 29.9 ACE ELN NKX2-6 NPPB
11 chronic kidney failure 29.9 ACE NPPB PON1
12 supravalvular aortic stenosis 29.8 ELN FBN1
13 coronary stenosis 29.8 ACE NPPB PON1
14 aortic coarctation 29.7 ACE FBN1 NOTCH1
15 heart valve disease 29.7 ACE ELN FBN1 NKX2-6 NPPB
16 hypoplastic left heart syndrome 29.6 NKX2-6 NOTCH1 NPPB
17 aortic valve disease 1 29.6 ACE ELN FBN1 MRAP NKX2-6 NOTCH1
18 tetralogy of fallot 29.4 FBN1 NKX2-6 NOTCH1 NPPB
19 heart disease 29.1 ACE ELN NKX2-6 NOTCH1 NPPB PON1
20 congenital aortic valve insufficiency 12.5
21 laubry-pezzi syndrome 11.7
22 marfan syndrome 11.6
23 aortic aneurysm, familial thoracic 1 11.5
24 congenital heart defects, multiple types, 2 11.2
25 ehlers-danlos syndrome, cardiac valvular type 11.1
26 takayasu arteritis 10.3
27 pseudoxanthoma elasticum-like papillary dermal elastolysis 10.2 ELN FBN1
28 late-onset focal dermal elastosis 10.2 ELN FBN1
29 familial abdominal aortic aneurysm 10.2 ELN FBN1
30 ebstein anomaly 10.2 NKX2-6 NPPB
31 chronic actinic dermatitis 10.2 ELN FBN1
32 anterolateral myocardial infarction 10.2 ACE NPPB
33 mid-dermal elastolysis 10.2 ELN FBN1
34 hepatoportal sclerosis 10.2 ACE ELN
35 autosomal recessive cutis laxa type iii 10.2 ELN FBN1
36 syndrome of inappropriate antidiuretic hormone 10.2 ACE NPPB
37 phacogenic glaucoma 10.2 ELN FBN1
38 ischemic heart disease 10.2 ACE NPPB
39 idiopathic edema 10.2 ACE NPPB
40 diastolic heart failure 10.2 ACE NPPB
41 tricuspid valve disease 10.2 FBN1 NKX2-6 NPPB
42 renal hypertension 10.2 ACE NPPB
43 sorsby fundus dystrophy 10.2 ELN FBN1
44 zika fever 10.2 MRAP SLC6A1
45 systolic heart failure 10.1 ACE NPPB
46 diaphragmatic eventration 10.1 FBN1 NKX2-6
47 coronary heart disease 1 10.1 ACE NPPB PON1
48 arteriosclerosis 10.1 ACE ELN PON1
49 endocarditis 10.1
50 angina pectoris 10.1 ACE NPPB

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


Aortic Valve Disease 1 Familial Atrial Fibrillation
Heart Disease Ischemic 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
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Symptoms & Phenotypes for Aortic Valve Insufficiency

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Drugs & Therapeutics for Aortic Valve Insufficiency

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

(show top 50) (show all 89)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Angiotensin II Approved, Investigational Phase 4,Phase 3,Phase 2 11128-99-7, 68521-88-0, 4474-91-3 172198 65143
2
Losartan Approved Phase 4,Phase 3,Phase 2 114798-26-4 3961
3
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
4
Rivaroxaban Approved Phase 4 366789-02-8
5
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
6
Amlodipine Approved Phase 4 88150-42-9 2162
7
Chlorthalidone Approved Phase 4 77-36-1 2732
8
Serine Approved, Nutraceutical Phase 4,Not Applicable 56-45-1 5951
9
protease inhibitors Phase 4,Not Applicable
10 Anticoagulants Phase 4
11 Serine Proteinase Inhibitors Phase 4,Not Applicable
12 Antithrombin III Phase 4
13 HIV Protease Inhibitors Phase 4,Not Applicable
14 Antithrombins Phase 4
15 Antihypertensive Agents Phase 4,Phase 3,Phase 2
16 Adrenergic Antagonists Phase 4,Phase 3
17 Adrenergic Agents Phase 4,Phase 3
18 Adrenergic beta-Antagonists Phase 4,Phase 3
19 Neurotransmitter Agents Phase 4,Phase 3
20 Anti-Arrhythmia Agents Phase 4,Phase 3,Phase 2
21 Vasodilator Agents Phase 4,Phase 3
22 Angiotensin II Type 1 Receptor Blockers Phase 4,Phase 3,Phase 2
23 Angiotensinogen Phase 4,Phase 3,Phase 2
24 Angiotensin Receptor Antagonists Phase 4,Phase 3,Phase 2
25 Protective Agents Phase 4,Not Applicable
26 Peripheral Nervous System Agents Phase 4
27 Sympatholytics Phase 4
28 Autonomic Agents Phase 4
29 Adrenergic beta-1 Receptor Antagonists Phase 4
30 Analgesics Phase 4
31 Anti-Inflammatory Agents, Non-Steroidal Phase 4
32 Cyclooxygenase Inhibitors Phase 4
33 Antirheumatic Agents Phase 4
34 Analgesics, Non-Narcotic Phase 4
35 Factor Xa Inhibitors Phase 4
36 Anti-Inflammatory Agents Phase 4
37 Antipyretics Phase 4
38 Fibrinolytic Agents Phase 4
39 Platelet Aggregation Inhibitors Phase 4
40 diuretics Phase 4
41 Calcium, Dietary Phase 4,Phase 3
42 calcium channel blockers Phase 4
43 Sodium Chloride Symporter Inhibitors Phase 4
44 Natriuretic Agents Phase 4
45 Fluorides Phase 4
46 Cariostatic Agents Phase 4
47 Radiopharmaceuticals Phase 4
48 Bone Density Conservation Agents Phase 4
49 Fluorodeoxyglucose F18 Phase 4
50
Nebivolol Approved, Investigational Phase 3 99200-09-6, 152520-56-4, 118457-14-0 71301

Interventional clinical trials:

(show top 50) (show all 160)
# Name Status NCT ID Phase Drugs
1 The Pacing vs No Pacing Study - PNP Study Unknown status NCT02498639 Phase 4
2 Study of Administration Of Antithrombin in Patients With Low Plasmatic Levels of Antithrombin After Cardiac Surgery Unknown status NCT01201070 Phase 4 antithrombin III
3 Effect of Beta Blockade on Left Ventricular Remodeling and Function in Moderate to Severe Asymptomatic Aortic Regurgitation Completed NCT01157572 Phase 4 Metoprolol;Placebo
4 Anticoagulation for Aortic Bioprosthesis (ANTIPRO) Recruiting NCT03807921 Phase 4 Warfarin;Aspirin
5 Rivaroxaban or Aspirin for Biological Aortic Prosthesis Recruiting NCT02974920 Phase 4 Rivaroxaban 10 MG;Aspirin
6 Study to Evaluate the Effect on Improvement of LVH by the Control of BP in Hypertension Patients With AV Disease Recruiting NCT03666351 Phase 4 Amlodipine 5mg;Losartan;Losartan and Amlodipine;Amlodipine/Losartan/Chlorthalidone;current treatment
7 Assessment of Osteoblastic Activity With 18F-Fluoride in Aortic Bioprosthesis Structural Valve Dysfunction (SVD) Recruiting NCT03015818 Phase 4
8 TRANscatheter or SurgIcal Aortic Valve ReplacemenT in All-Comers With Severe Aortic Valve Stenosis Withdrawn NCT02838199 Phase 4
9 Study of Aortic Root Reimplantation Procedure Unknown status NCT01787604 Phase 3
10 Minimally Invasive Transthoracic Device Closure in Perimembranous Ventricular Septal Defect Unknown status NCT02644330 Phase 2, Phase 3
11 Nebivolol Versus Losartan Versus Nebivolol+Losartan Against Aortic Root Dilation in Genotyped Marfan Patients Unknown status NCT00683124 Phase 3 Losartan and nebivolol;Losartan;Nebivolol
12 Randomized, Double-blind Study for the Evaluation of the Effect of Losartan Versus Placebo on Aortic Root Dilatation in Patients With Marfan Syndrome Under Treatment With Beta-blockers Unknown status NCT00782327 Phase 3 Losartan;Placebo
13 Conservative Aortic Valve Surgery for Aortic Insufficiency and Aneurysms of the Aortic Root. CAVIAAR Completed NCT00478803 Phase 3
14 Freedom SOLO Stentless Heart Valve Study Completed NCT01115907 Phase 3
15 Interest of Cardiac Computed Tomography to Optimize and Improve the Procedure of TAVI Completed NCT01672268 Phase 3
16 Assessment of the St Jude Medical Portico Resheathable Aortic Valve System-Alternative Access Recruiting NCT03056573 Phase 2, Phase 3
17 Evaluating the Effectiveness of Atorvastatin on the Progression of Aortic Dilatation and Valvular Degeneration in Patients With Bicuspid Aortic Valve Active, not recruiting NCT02679261 Phase 3 Atorvastatin;Placebo
18 TranScatheter Aortic Valve RepLacement System US Feasibility Trial Unknown status NCT01932099 Phase 2
19 Safety and Efficacy of TP10, a Complement Inhibitor, in Adult Women Undergoing Cardiopulmonary Bypass Surgery Completed NCT00082121 Phase 2 TP10
20 Evaluation of Losartan on Cardiovascular Disease in Patients With Mucopolysaccharidoses IV A and VI Recruiting NCT03632213 Phase 2 Losartan;Placebo
21 NHLBI DIR LAMPOON Study: Intentional Laceration of the Anterior Mitral Leaflet to Prevent Left Ventricular Outflow Tract Obstruction During Transcatheter Mitral Valve Implantation Active, not recruiting NCT03015194 Phase 2
22 Aortic Regurgitation After Surgical Repair of Outlet-Type Ventricular Septal Defect Unknown status NCT00173186
23 Extravalvular Procedure for Surgical Treatment of Ascending Aorta Aneurism Unknown status NCT01456975 Not Applicable
24 The Italian Society of Invasive Cardiology Registry on Percutaneous Aortic Valve Unknown status NCT02713932
25 Mechanism and Early Intervention Research on ALI During Emergence Surgery of Acute Stanford A Aortic Dissection Unknown status NCT01894334 Not Applicable Ulinastatin;Tranexamic acid;Edaravone
26 Clinical Investigation of the Freedom SOLO Stentless Heart Valve Unknown status NCT00876525 Not Applicable
27 Calibrating Cardiac Output Measurement of Electrical Cardiometry With Transthoracic Echocardiography Unknown status NCT02702063 Not Applicable
28 Transapical Implantation of Ventor Embracerâ„¢ Valve in Patients With Severe Aortic Valve Disease Unknown status NCT00677638 Not Applicable
29 Transcatheter Aortic Valve Implantation Without Predilation Unknown status NCT01539746 Not Applicable
30 Velocity Vector Imaging in Patients With Moderate-to-Severe Aortic Regurgitation Completed NCT00624884
31 Diastolic Dysfunction in Aortic Regurgitation Completed NCT00976625 Not Applicable
32 HAART 200 Aortic Valve Annuloplasty Trial Completed NCT02071849 Not Applicable
33 The HAART 300 Annuloplasty Ring Trial Extended Safety and Performance Completed NCT01732835 Not Applicable
34 HAART Model 300 Annuloplasty Ring Completed NCT01400841 Not Applicable
35 Investigation of Heart Function in Patients With Heart Valve Defects Completed NCT00001314
36 CryoValve® SG Aortic Human Heart Valve Combination Study Completed NCT01236469
37 German TAVI-Register Completed NCT02815514
38 Investigation of Patients With BAV Requiring Valve and/or Aortic Repair (GISSI Outliers VAR) Completed NCT02283970
39 Clinical Investigation Of The Mitroflow Aortic Pericardial Heart Valve Completed NCT00630916 Not Applicable
40 An Observational, Prospective Evaluation of the Trifectaâ„¢ Valve Completed NCT00727181 Not Applicable
41 Aortic Valve Replacement With Trifecta(TM) Completed NCT00475709 Not Applicable
42 Aortic Valve Replacement With Trifecta(TM) Completed NCT00475267 Not Applicable
43 CoreValve® System Australia/New Zealand Clinical Study Completed NCT01015612 Not Applicable
44 Cerebral Oxymetry at Elective Coronary and Valve Surgery. Completed NCT01940874
45 Examination of Valve Insufficiency Before and After MitraClip or TAVI Procedure by 3D Echocardiography Compared to MRI Completed NCT01966146 Not Applicable
46 The PARTNER II Trial: Placement of AoRTic TraNscathetER Valves - PII B Completed NCT02184442 Not Applicable
47 Everyday Practice With Transcatheter Aortic Valve Implantation Completed NCT02289339
48 CryoValve SG Pulmonary Human Heart Valve Post Clearance Study Completed NCT01092442
49 Aortic or Mitral Valve Replacement With the Biocor and Biocor Supra Completed NCT00636987 Not Applicable
50 Clinical Trial of the Edwards Aortic Bioprosthesis, Model 11000 Completed NCT01651052 Not Applicable

Search NIH Clinical Center for Aortic Valve Insufficiency

Cochrane evidence based reviews: aortic valve insufficiency

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Genetic Tests for Aortic Valve Insufficiency

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Genetic tests related to Aortic Valve Insufficiency:

# Genetic test Affiliating Genes
1 Aortic Regurgitation 29
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Anatomical Context for Aortic Valve Insufficiency

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MalaCards organs/tissues related to Aortic Valve Insufficiency:

41
Heart, Brain, Kidney, Lung, Testes, Small Intestine, Bone
Sources

Publications for Aortic Valve Insufficiency

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Articles related to Aortic Valve Insufficiency:

(show top 50) (show all 1179)
# Title Authors Year
1
Transcatheter valve with a hollow balloon for aortic valve insufficiency. ( 29629555 )
2018
2
Aortic valve insufficiency in aortic root aneurysms: consider every valve for repair. ( 29682470 )
2018
3
Aortic Valve Cusp Coaptation Surface Area Using 3-Dimensional Transesophageal Echocardiography Correlates with Severity of Aortic Valve Insufficiency. ( 29128482 )
2018
4
Transcatheter closure of ventricular septal defect in aortic valve prolapse and aortic regurgitation. ( 30170648 )
2018
5
Is it Time to Get More Aggressive With Aortic Valve Insufficiency During LVAD Implantation? ( 30384914 )
2018
6
AVIATOR: An open international registry to evaluate medical and surgical outcomes of aortic valve insufficiency and ascending aorta aneurysm. ( 30553597 )
2018
7
Edwards Sapien 3 transcatheter aortic valve implantation for management of severe aortic regurgitation in a teenage patient with corrected atrioventricular septal defect and progressive left ventricular dysfunction. ( 30461164 )
2018
8
Emergent valve-in-valve transcatheter aortic valve replacement in patient with acute aortic regurgitation and cardiogenic shock with preoperative extracorporeal membrane oxygenator: A case report and review of the literature. ( 30455139 )
2018
9
Transcatheter Aortic Valve Replacement for Severe Aortic Regurgitation With Acute Refractory Cardiogenic Shock. ( 29475537 )
2018
10
Left coronary artery anomaly in a patient with severe aortic regurgitation and subvalvular membrane. ( 29998557 )
2018
11
Characteristics of Adults Having Aortic Valve Replacement for Pure Aortic Regurgitation Involving a Congenitally Bicuspid Aortic Valve Unaffected by Infective Endocarditis or Aortic Dissection. ( 30343820 )
2018
12
Aortic regurgitation in rheumatoid arthritis: an uncommon presentation. ( 30132160 )
2018
13
Transcatheter Aortic Valve Replacement for Severe Aortic Regurgitation in Singleton-Merten Syndrome. ( 30343025 )
2018
14
Exercise-induced asthma related to aortic regurgitation in ankylosing spondylitis. ( 29298640 )
2018
15
The Ross procedure in adults presenting with bicuspid aortic valve and pure aortic regurgitation: 85% freedom from reoperation at 20 years. ( 29546380 )
2018
16
Association of postprocedural aortic regurgitation with mitral regurgitation worsened after transcatheter aortic valve replacement. ( 29272553 )
2018
17
Aortic valve replacement for aortic regurgitation associated with osteogenesis imperfecta. ( 29909096 )
2018
18
Severe Prosthetic Mitral Stenosis Misinterpreted as Severe Aortic Regurgitation. ( 30442518 )
2018
19
Chronic Moderate Aortic Regurgitation in Liver Transplantation: Prevalence, Perioperative Management, and Short-Term Outcomes. ( 30177472 )
2018
20
A Novel Technique for Transcatheter Aortic Valve Replacement in Pure Aortic Regurgitation. ( 30179622 )
2018
21
The Role of Quantitative Aortographic Assessment of Aortic Regurgitation by Videodensitometry in the Guidance of Transcatheter Aortic Valve Implantation. ( 30183986 )
2018
22
New Method Improves the Assessment of Aortic Regurgitation Grade during TAVR by Aortography. ( 30183987 )
2018
23
Aortic regurgitation in patients with a left ventricular assist device: A contemporary review. ( 30197211 )
2018
24
Aortic valve repair for aortic regurgitation and preoperative echocardiographic assessment. ( 30232651 )
2018
25
The usefulness of selected biomarkers in aortic regurgitation. ( 30234893 )
2018
26
Case report: panic attacks as symptom of aortic regurgitation and aneurysm. ( 30242467 )
2018
27
Changes in left ventricular function in patients with aortic regurgitation 12 months after transapical transcatheter aortic valve implantation. ( 30264363 )
2018
28
Post/preprocedural ratio of hemodynamically assessed aortic regurgitation index as a marker for the need for corrective measures during transcatheter valve replacement: A first confirmatory study in patients receiving a new generation transcatheter self-expandable prosthesis. ( 30269429 )
2018
29
Subacute aortic regurgitation due to traumatic tear in the aortic wall. ( 30279898 )
2018
30
Decision Making With Imaging in Asymptomatic Aortic Regurgitation. ( 30286910 )
2018
31
Surgical outcomes in Behcet's disease patients with severe aortic regurgitation. ( 30315793 )
2018
32
Aortic regurgitation after chemoport catheter insertion: Diagnostic dilemma. ( 30333345 )
2018
33
New echocardiographic method for chronic aortic regurgitation: diastolic retrograde ratio in the descending aorta by vector flow mapping. ( 30377892 )
2018
34
Severe aortic regurgitation due to a Lunderquist Extra-Stiff Wire Guide during transcatheter aortic valve implantation. ( 30394515 )
2018
35
Pivotal Role of Intraoperative Transesophageal Echocardiography for Detecting Iatrogenic Aortic Regurgitation due to Cardiac Catheterization. ( 30403021 )
2018
36
Phase-Contrast Magnetic Resonance Quantification of Aortic Regurgitation in Patients With Turbulent Aortic Flow. ( 30407246 )
2018
37
Urgent transcatheter aortic valve replacement for severe acute aortic regurgitation following open mitral valve surgery. ( 30408318 )
2018
38
Feasibility study of a synchronized diastolic injection with low contrast volume for proper quantitative assessment of aortic regurgitation in porcine models. ( 30430723 )
2018
39
Diagnostic and Prognostic Utility of Cardiac Magnetic Resonance Imaging in Aortic Regurgitation. ( 30448117 )
2018
40
Optimizing the Assessment of Aortic Regurgitation: The Importance of Quantity and Quality. ( 30448127 )
2018
41
First-in-human experience of a new generation transfemoral transcatheter aortic valve for the treatment of severe aortic regurgitation: the J-Valve transfemoral system. ( 30451688 )
2018
42
Different impact of aortic regurgitation assessed by aortic root angiography after transcatheter aortic valve implantation according to baseline left ventricular ejection fraction and N-terminal pro-B-type natriuretic peptide. ( 28567700 )
2018
43
How to plan an overlap-free projection on CTA or fluoroscopy to facilitate quantitative analysis of aortic regurgitation. ( 28606890 )
2018
44
Global Longitudinal Strain in Asymptomatic Chronic Aortic Regurgitation: The Missing Piece for the Watchful Waiting Puzzle? ( 28624406 )
2018
45
Incremental Prognostic Utility of Left Ventricular Global Longitudinal Strain in Asymptomatic Patients With Significant Chronic Aortic Regurgitation and Preserved Left Ventricular Ejection Fraction. ( 28624411 )
2018
46
Angles between the aortic root and the left ventricle assessed by MDCT are associated with the risk of aortic regurgitation after transcatheter aortic valve replacement. ( 28799113 )
2018
47
Evaluation of aortic regurgitation with cardiac magnetic resonance imaging: a systematic review. ( 28822982 )
2018
48
Characterization of complex flow patterns in the ascending aorta in patients with aortic regurgitation using conventional phase-contrast velocity MRI. ( 28871348 )
2018
49
The association between aortic regurgitation and undetermined embolic infarction with aortic complex plaque. ( 28872450 )
2018
50
Aortic Regurgitation in Acute Type-A Aortic Dissection: A Clinical Classification for the Perioperative Echocardiographer in the Era of the Functional Aortic Annulus. ( 28927697 )
2018
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Variations for Aortic Valve Insufficiency

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ClinVar genetic disease variations for Aortic Valve Insufficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 NM_000138.4(FBN1): c.139G> A (p.Gly47Ser) single nucleotide variant Uncertain significance rs762400500 GRCh38 Chromosome 15, 48644631: 48644631
2 FBN1 NM_000138.4(FBN1): c.139G> A (p.Gly47Ser) single nucleotide variant Uncertain significance rs762400500 GRCh37 Chromosome 15, 48936828: 48936828
Sources

Expression for Aortic Valve Insufficiency

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

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GO Terms for Aortic Valve Insufficiency

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

# Name GO ID Score Top Affiliating Genes
1 aortic valve morphogenesis GO:0003180 8.96 ELN NOTCH1
2 regulation of blood vessel diameter GO:0097746 8.62 ACE NPPB

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix constituent conferring elasticity GO:0030023 8.62 ELN FBN1
Sources

Sources for Aortic Valve Insufficiency

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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