Aortic Valve Insufficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: ART018 MIFTS: 54	Aortic Valve Insufficiency Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases	Data Licensing For inquiries, contact: [email protected]
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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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases Blood diseases Respiratory diseases

See all MalaCards categories (disease lists)

ICD10: ³¹

Diseases of the circulatory system

Chronic rheumatic heart diseases

Rheumatic aortic valve diseases

Rheumatic aortic insufficiency

Other forms of heart disease

Nonrheumatic aortic valve disorders

Aortic (valve) insufficiency

ICD11: ³³

Diseases of the circulatory system

Heart valve diseases

Aortic valve disease

Aortic valve insufficiency

Aortic valve insufficiency, unspecified

Rheumatic aortic valve insufficiency

External Ids:

Disease Ontology ¹¹ DOID:57

ICD9CM ³⁴ 395.1 396.3

MeSH ⁴³ D001022

NCIt ⁴⁹ C51223

SNOMED-CT ⁶⁸ 155283004 194736003 60234000

ICD10 ³¹ I06.1 I35.1

EFO ¹⁶ EFO_0007148

ICD11 ³³ 1548485475 1548485475/unspecified 1843774992

UMLS ⁷¹ C0003504 C0155568 C0264774

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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...

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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:

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Symptoms & Phenotypes for Aortic Valve Insufficiency

MGI Mouse Phenotypes related to Aortic Valve Insufficiency:

⁴⁵

#	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

Sources

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

HIV Protease Inhibitors

Phase 4

Serine Proteinase Inhibitors

Phase 4

Antithrombins

Phase 4

Antithrombin III

Phase 4

protease inhibitors

Phase 4

Factor Xa Inhibitors

Phase 4

Platelet Aggregation Inhibitors

Phase 4

diuretics

Phase 4

Analgesics

Phase 4

Antirheumatic Agents

Phase 4

Fibrinolytic Agents

Phase 4

Antipyretics

Phase 4

Cyclooxygenase Inhibitors

Phase 4

Anticoagulants

Phase 4

Anti-Inflammatory Agents, Non-Steroidal

Phase 4

Analgesics, Non-Narcotic

Phase 4

Anti-Inflammatory Agents

Phase 4

Calcium, Dietary

Phase 4

Hormones

Phase 4

Anti-Arrhythmia Agents

Phase 4

Antihypertensive Agents

Phase 4

Angiotensinogen

Phase 4

16133225

Angiotensin Receptor Antagonists

Phase 4

Angiotensin II Type 1 Receptor Blockers

Phase 4

Vasodilator Agents

Phase 4

calcium channel blockers

Phase 4

Giapreza

Phase 4

Neurotransmitter Agents

Phase 4

Adrenergic beta-1 Receptor Antagonists

Phase 4

Adrenergic Antagonists

Phase 4

Adrenergic Agents

Phase 4

Sympatholytics

Phase 4

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

Complement System Proteins

Phase 2

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

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Genetic Tests for Aortic Valve Insufficiency

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Anatomical Context for Aortic Valve Insufficiency

Organs/tissues related to Aortic Valve Insufficiency:

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

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Publications for Aortic Valve Insufficiency

Articles related to Aortic Valve Insufficiency:

(show top 50) (show all 13032)

#	Title	Authors	PMID	Year
1	B-type natriuretic peptide and left ventricular dysfunction on exercise echocardiography in patients with chronic aortic regurgitation. ⁵³ ⁶²	Gabriel RS...Stewart RA	17974697	2008
2	Distinct downregulation of C-type natriuretic peptide system in human aortic valve stenosis. ⁵³ ⁶²	Peltonen TO...Leskinen H	17709640	2007
3	Brain natriuretic peptide and the severity of aortic regurgitation: is there any correlation? ⁵³ ⁶²	Ozkan M...Isik E	16104449	2005
4	Relation of N-terminal pro B-type natriuretic peptide to progression of aortic valve disease. ⁵³ ⁶²	Weber M...Hamm C	15781428	2005
5	Clinical applications of B-type natriuretic peptide levels in the care of cardiovascular patients. ⁵³ ⁶²	McCullough PA	15729209	2004
6	Elevated B-type natriuretic peptide in asymptomatic men with chronic aortic regurgitation and preserved left ventricular systolic function. ⁵³ ⁶²	Eimer MJ...Cotts WG	15342310	2004
7	Associations between plasma natriuretic peptide levels, symptoms, and left ventricular function in patients with chronic aortic regurgitation. ⁵³ ⁶²	Gerber IL...White HD	12972129	2003
8	Commentary: Moderate aortic regurgitation at the time of surgery: Just don't do it. ⁶²	Kalavrouziotis D...Mohammadi S	33563423	2022
9	Impact of progressive aortic regurgitation on outcomes after left ventricular assist device implantation. ⁶²	Gasparovic H...Cikes M	35737119	2022
10	Commentary: Does untreated associated moderate aortic regurgitation have no impact on long-term outcomes if major lesion is fixed? ⁶²	Kobayashi J	33612295	2022
11	Rare Presentation of Sinus of Valsalva Aneurysm Treated by Aortic Valve Reimplantation Technique. ⁶²	Petersen J...Girdauskas E	34673519	2022
12	A Five-Leaf Clover or an Exceptionally Rare Cause of Severe Aortic Insufficiency? ⁶²	Beddingfield RH...Pagel PS	36038442	2022
13	Impact of aortic valve effective height following valve-sparing root replacement on postoperative insufficiency and reoperation. ⁶²	Kachroo P...Moon MR	35659124	2022
14	Quantifying Valve Regurgitation Using 3-D Doppler Ultrasound Images and Deep Learning. ⁶²	Wifstad SV...Fiorentini S	36315529	2022
15	A tailored strategy for repair of acute type A aortic dissection. ⁶²	Lau C...Girardi LN	33558116	2022
16	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	Liu H...Zhang HJ	36185465	2022
17	Prognostic value of diastolic function parameters in significant aortic regurgitation: the role of the left atrial strain. ⁶²	Garcia Martin A...Fernandez-Golfin C	35579751	2022
18	Transthoracic echocardiographic assessment of cardiac valves in patients with Behçet's disease. ⁶²	Fu J...Zhang C	36460877	2022
19	Heavy Calcification of Left Atrium and Calcific Mass on Mitral Valve: An Unusual Presentation of Ankylosing Spondylitis. ⁶²	Tukenmez Karakurt S...Babur Guler G	35976239	2022
20	Fate of moderate aortic regurgitation after cardiac surgery. ⁶²	Ward A...McCarthy PM	33610367	2022
21	Anatomical and Clinical Factors Associated With Valvulopathy and Aortopathy in Mexican Patients With Bicuspid Aortic Valves. ⁶²	Avila-Vanzzini N...Michelena HI	36163051	2022
22	Isometric Exercise Increases the Diameter of the Ascending Aorta in Youth with Bicuspid Aortic Valves. ⁶²	Hartz J...Rhodes J	35768732	2022
23	Staging cardiac damage in patients with aortic regurgitation. ⁶²	Silva G...Sampaio F	36445657	2022
24	Transcatheter Aortic Valve Replacement for Severe Symptomatic Aortic Stenosis in Rheumatic Heart Disease: A Systematic Review. ⁶²	Fernandes ADF...Alfonso CE	36201243	2022
25	Long-term outcomes of mini-sternotomy versus conventional sternotomy for aortic valve replacement: a randomised controlled trial. ⁶²	Telyuk P...Akowuah E	36394261	2022
26	Valve-Related Complications in TAVI Leading to Emergent Cardiac Surgery. ⁶²	Conzelmann L...Mehlhorn U	36446625	2022
27	Long-term outcomes of primary aortic valve repair for isolated congenital aortic stenosis in children. ⁶²	Wallace F...Konstantinov IE	35430079	2022
28	Successful drainage of periaortic graft abscess and transcatheter aortic valve replacement in the same setting-A hybrid approach. ⁶²	Nasser AS...Aliter H	36116057	2022
29	Long-term outcomes and prognostic factors after aortic valve surgery in patients with Takayasu arteritis. ⁶²	Nam SH...Kim DH	36417115	2022
30	Physical activity and exercise recommendations for patients with valvular heart disease. ⁶²	Chatrath N...Papadakis M	35236765	2022
31	Haemodynamic performance and clinical outcomes of transcatheter aortic valve replacement with the self-expanding ACURATE neo2. ⁶²	Scotti A...Latib A	35678222	2022
32	Phospholipase Cε Insufficiency Causes Ascending Aortic Aneurysm and Dissection. ⁶²	Atchison DK...Bitzer M	36367690	2022
33	Exercise echocardiography for a differential diagnosis in a patient with radiation-induced heart disease: A case report. ⁶²	Miyamoto R...Sato Y	36312775	2022
34	Left ventricular remodelling in bicuspid aortic valve disease. ⁶²	Butcher SC...Delgado V	34966913	2022
35	Prevalence and Prognostic Implications of Moderate or Severe Mitral Regurgitation in Patients with Bicuspid Aortic Valve. ⁶²	Butcher SC...Delgado V	36332801	2022
36	Sex Differences in Aortopathy and Valve Diseases Among Patients Undergoing Cardiac Surgical Procedure. ⁶²	Vignac M...Gaye B	35271843	2022
37	Diastolic versus Systolic Left Ventricular Dysfunction as Independent Predictors for Unfavorable Postoperative Evolution in Patients with Aortic Regurgitation Undergoing Aortic Valve Replacement. ⁶²	Iliuta L...Rac-Albu ME	36422215	2022
38	Fifteen-year experience with the Tirone David procedure in bicuspid aortic valve: A safe option. ⁶²	Pujos C...Camilleri L	36124422	2022
39	Update on the Practical Role of Echocardiography in Selection, Implantation, and Management of Patients Requiring Left Ventricular Assist Device Therapy. ⁶²	Katapadi A...Khandheria BK	35984555	2022
40	Functional Mitral Regurgitation After Aortic Valve Replacement in Aortic Incompetence: Another piece to the puzzle. ⁶²	Ellis S...Khoche S	35965229	2022
41	Mitral Annulus Geometry and Dynamic Motion Changes in Patients With Aortic Regurgitation: A Three-Dimensional Transesophageal Echocardiographic Study. ⁶²	Meng Q...Wang H	35811278	2022
42	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	Arab MR...Zeriouh M	36321720	2022
43	Aortic Regurgitation Requiring Unplanned Surgery following Transcatheter Closure of Ventricular Septal Defect in Children: Incidence and Risk Factors. ⁶²	Zhang K...Xiang P	36413978	2022
44	Multimodality Imaging in a Case of Muscular Outlet Ventricular Septal Defect With Aortic Regurgitation due to Right Sinus of Valsalva Aneurysm Herniation. ⁶²	Yoshihara S...Naito M	36000391	2022
45	Managing uncertainty in decision-making of common congenital cardiac defects. ⁶²	McMahon CJ...Tretter JT	36300500	2022
46	Reconstruction of aortic sinus using patches in patients with acute type A aortic dissection. ⁶²	Zou Z...Fan X	36403278	2022
47	Severe aortic regurgitation from aortic valve perforation in Libman-Sacks endocarditis: Incremental value of 3D TEE. ⁶²	Adil A...Ammar KA	36354009	2022
48	Emergent Off-Label TAVR for Native Aortic Valve Endocarditis. ⁶²	Kalogeropoulos AS...Patterson T	36318462	2022
49	A rare delayed complication after TAVR: Acute severe aortic insufficiency. ⁶²	Fatehi Hassanabad A...Ahsan MR	36073090	2022
50	Outcomes of surgical bioprosthetic aortic valve replacement for aortic insufficiency. ⁶²	Danial P...Lansac E	36272966	2022

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Genes for Aortic Valve Insufficiency

Genes related to Aortic Valve Insufficiency (0 elite genes):

(show all 27)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	NPPB	Natriuretic Peptide B	Protein Coding	11.33	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15342310 16104449 17974697 (more) 17709640 15729209 12972129 15781428
2	PON1	Paraoxonase 1	Protein Coding	10.78	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
3	MIR374B	MicroRNA 374b	RNA Gene	7.78	DISEASES inferred ¹⁴ ¹⁴
4	FBN1	Fibrillin 1	Protein Coding	7.53	DISEASES inferred ¹⁴
5	CRP	C-Reactive Protein	Protein Coding	7.31	DISEASES inferred ¹⁴
6	ACE	Angiotensin I Converting Enzyme	Protein Coding	7.05	DISEASES inferred ¹⁴
7	ELN	Elastin	Protein Coding	6.75	DISEASES inferred ¹⁴
8	LAX1	Lymphocyte Transmembrane Adaptor 1	Protein Coding	6.31	DISEASES inferred ¹⁴
9	REN	Renin	Protein Coding	6.28	DISEASES inferred ¹⁴
10	MIR223	MicroRNA 223	RNA Gene	6.12	DISEASES inferred ¹⁴ ¹⁴
11	GATA5	GATA Binding Protein 5	Protein Coding	5.96	DISEASES inferred ¹⁴
12	VWF	Von Willebrand Factor	Protein Coding	5.89	DISEASES inferred ¹⁴
13	ALB	Albumin	Protein Coding	5.87	DISEASES inferred ¹⁴
14	ACTA2	Actin Alpha 2, Smooth Muscle	Protein Coding	5.85	DISEASES inferred ¹⁴
15	F2	Coagulation Factor II, Thrombin	Protein Coding	5.76	DISEASES inferred ¹⁴
16	TNNI3	Troponin I3, Cardiac Type	Protein Coding	5.74	DISEASES inferred ¹⁴
17	F3	Coagulation Factor III, Tissue Factor	Protein Coding	5.74	DISEASES inferred ¹⁴
18	TGFBR2	Transforming Growth Factor Beta Receptor 2	Protein Coding	5.73	DISEASES inferred ¹⁴
19	TGFBR1	Transforming Growth Factor Beta Receptor 1	Protein Coding	5.71	DISEASES inferred ¹⁴
20	SRSF6	Serine And Arginine Rich Splicing Factor 6	Protein Coding	5.69	DISEASES inferred ¹⁴
21	EFEMP2	EGF Containing Fibulin Extracellular Matrix Protein 2	Protein Coding	5.54	DISEASES inferred ¹⁴
22	MYH11	Myosin Heavy Chain 11	Protein Coding	5.48	DISEASES inferred ¹⁴
23	SCAI	Suppressor Of Cancer Cell Invasion	Protein Coding	5.47	DISEASES inferred ¹⁴
24	IDUA	Alpha-L-Iduronidase	Protein Coding	5.39	DISEASES inferred ¹⁴
25	NKX2-5	NK2 Homeobox 5	Protein Coding	5.33	DISEASES inferred ¹⁴
26	FBN2	Fibrillin 2	Protein Coding	5.33	DISEASES inferred ¹⁴
27	MIR3688-1	MicroRNA 3688-1	RNA Gene	5.33	DISEASES inferred ¹⁴

Sources

Variations for Aortic Valve Insufficiency

ClinVar genetic disease variations for Aortic Valve Insufficiency:

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#	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

Sources

Expression for Aortic Valve Insufficiency

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

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Pathways for Aortic Valve Insufficiency

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

#	Super pathways	Score	Top Affiliating Genes
1	TGF-beta receptor signaling activates SMADs ⁶⁶ Show member pathways Downregulation of TGF-beta receptor signaling ⁶⁶ Loss of Function of SMAD2/3 in Cancer ⁶⁶ Loss of Function of TGFBR1 in Cancer ⁶⁶ Signaling by TGF-beta Receptor Complex in Cancer ⁶⁶ TGF-beta signaling pathway ⁷⁴ TGFBR1 LBD Mutants in Cancer ⁶⁶	11.43	TGFBR2 TGFBR1 FBN1
2	Angiogenesis (CST) ³	10.87	VWF TGFBR1 REN F3
3	Angiotensin II receptor type 1 pathway ⁷⁴	10.78	TGFBR2 TGFBR1 ACTA2
4	Hypothesized pathways in pathogenesis of cardiovascular disease ⁷⁴	10.53	TGFBR2 TGFBR1 FBN1

Sources

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