CVDD
MCID: CRD220
MIFTS: 36

Cardiac Valvular Defect, Developmental (CVDD)

Categories: Genetic diseases

Aliases & Classifications for Cardiac Valvular Defect, Developmental

MalaCards integrated aliases for Cardiac Valvular Defect, Developmental:

Name: Cardiac Valvular Defect, Developmental 58 76 30 6
Cvdd 58 76
Heart Valve Disease 74

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
cardiac valvular defect, developmental:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cardiac Valvular Defect, Developmental

UniProtKB/Swiss-Prot : 76 Cardiac valvular defect, developmental: An autosomal recessive form of congenital heart defects, characterized by valvular malformations involving the pulmonic, tricuspid and mitral valves.

MalaCards based summary : Cardiac Valvular Defect, Developmental, is also known as cvdd, and has symptoms including angina pectoris, edema and chest pain. An important gene associated with Cardiac Valvular Defect, Developmental is PLD1 (Phospholipase D1). The drugs Amiodarone and Warfarin have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and testes, and related phenotypes are inguinal hernia and edema

Description from OMIM: 212093

Related Diseases for Cardiac Valvular Defect, Developmental

Symptoms & Phenotypes for Cardiac Valvular Defect, Developmental

Human phenotypes related to Cardiac Valvular Defect, Developmental:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 33 HP:0000023
2 edema 33 HP:0000969
3 hydrops fetalis 33 HP:0001789
4 mitral valve prolapse 33 HP:0001634
5 tricuspid atresia 33 HP:0011662
6 hydronephrosis 33 HP:0000126
7 hydroureter 33 HP:0000072
8 mitral stenosis 33 HP:0001718
9 tricuspid valve prolapse 33 HP:0001704
10 tricuspid regurgitation 33 HP:0005180
11 patent foramen ovale 33 HP:0001655
12 urethral diverticulum 33 HP:0008722
13 arteria lusoria 33 HP:0031014

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
mitral valve prolapse
tricuspid valve prolapse
patent foramen ovale
pulmonary valve stenosis or atresia
subpulmonic stenosis
more
Cardiovascular Vascular:
small pulmonary arteries
aberrant right subclavian artery

Prenatal Manifestations:
hydrops

Clinical features from OMIM:

212093

UMLS symptoms related to Cardiac Valvular Defect, Developmental:


angina pectoris, edema, chest pain, undiagnosed heart murmur

Drugs & Therapeutics for Cardiac Valvular Defect, Developmental

Drugs for Cardiac Valvular Defect, Developmental (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 432)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amiodarone Approved, Investigational Phase 4,Phase 3,Not Applicable 1951-25-3 2157
2
Warfarin Approved Phase 4,Phase 2,Phase 3,Not Applicable 81-81-2 54678486 6691
3
Atorvastatin Approved Phase 4,Phase 3 134523-00-5 60823
4
Desflurane Approved Phase 4,Not Applicable 57041-67-5 42113
5
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 2078-54-8 4943
6
Ranolazine Approved, Investigational Phase 4,Phase 2 95635-55-5, 142387-99-3 56959
7
Captopril Approved Phase 4 62571-86-2 44093
8
Trandolapril Approved Phase 4 87679-37-6 5484727
9
Spironolactone Approved Phase 4,Not Applicable 1952-01-7, 52-01-7 5833
10
Sufentanil Approved, Investigational Phase 4,Phase 2,Not Applicable 56030-54-7 41693
11
Ketamine Approved, Vet_approved Phase 4,Phase 2,Not Applicable 6740-88-1 3821
12
Remifentanil Approved Phase 4,Phase 2,Not Applicable 132875-61-7 60815
13
Midazolam Approved, Illicit Phase 4,Phase 2,Not Applicable 59467-70-8 4192
14
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 2 437-38-7 3345
15
Dopamine Approved Phase 4,Phase 3,Phase 2,Not Applicable 62-31-7, 51-61-6 681
16
Angiotensin II Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 11128-99-7, 68521-88-0, 4474-91-3 172198
17
Candesartan cilexetil Approved Phase 4,Phase 3,Phase 2 145040-37-5 2540
18
Clopidogrel Approved Phase 4,Phase 3,Not Applicable,Early Phase 1 120202-66-6, 113665-84-2 60606
19
Aspirin Approved, Vet_approved Phase 4,Phase 3,Not Applicable 50-78-2 2244
20
Ticagrelor Approved Phase 4,Phase 3,Early Phase 1 274693-27-5 9871419
21
Rivaroxaban Approved Phase 4,Phase 3,Phase 2 366789-02-8
22 Menaquinone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 1182-68-9
23
Phylloquinone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 84-80-0
24
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
25
Metoprolol Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 37350-58-6, 51384-51-1 4171
26
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 113775-47-6 5311068 68602
27
Sodium Citrate Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 68-04-2
28
Sevoflurane Approved, Vet_approved Phase 4,Phase 2,Early Phase 1 28523-86-6 5206
29
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
30
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
31
Etomidate Approved Phase 4,Phase 2 33125-97-2 667484 36339
32
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
33
Isoflurane Approved, Vet_approved Phase 4,Not Applicable 26675-46-7 3763
34
Racepinephrine Approved Phase 4,Not Applicable 329-65-7 838
35
Norepinephrine Approved Phase 4 51-41-2 439260
36
Epinephrine Approved, Vet_approved Phase 4,Not Applicable 51-43-4 5816
37
Dobutamine Approved Phase 4,Not Applicable 34368-04-2 36811
38
Valsartan Approved, Investigational Phase 4,Phase 2,Phase 3 137862-53-4 60846
39
Tolvaptan Approved Phase 4 150683-30-0 216237
40
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
41
Aminocaproic Acid Approved, Investigational Phase 4 60-32-2 564
42 Nutmeg Approved Phase 4,Not Applicable
43
Cosyntropin Approved Phase 4 16960-16-0 16129617
44
Acetylcysteine Approved, Investigational Phase 4,Phase 2,Phase 1 616-91-1 12035
45
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
46
Heparin Approved, Investigational Phase 4,Phase 3,Not Applicable,Early Phase 1 9005-49-6 46507594 772
47
Losartan Approved Phase 4,Phase 2,Not Applicable 114798-26-4 3961
48
Acenocoumarol Approved, Investigational Phase 4 152-72-7 54676537 9052
49
Regadenoson Approved, Investigational Phase 4,Phase 1,Phase 2,Not Applicable 313348-27-5 219024
50
Adenosine Approved, Investigational Phase 4,Phase 1,Phase 2 58-61-7 60961

Interventional clinical trials:

(show top 50) (show all 1405)
# Name Status NCT ID Phase Drugs
1 The Pharmacogenetics of Optimal Warfarin Therapy in Chinese Patients After Heart Valve Replacement. Unknown status NCT02710747 Phase 4
2 Frailty and Cognitive Function Assessment of TAVI Patients Unknown status NCT02650388 Phase 4
3 The ABC Trial Does All-Blood Cardioplegia Prevent Blood Transfusion in Cardiac Surgery? A Single Centre Pilot Study Unknown status NCT01623193 Phase 4
4 Applying Pharmacogenetics to Warfarin Dosing in Chinese Patients Unknown status NCT01610141 Phase 4
5 Effects of Atorvastatin Treatment on Left Ventricular Diastolic Function in Peritoneal Dialysis Patients Unknown status NCT01503671 Phase 4 Atorvastatin
6 (MitraClip in Non-Responders to Cardiac Resynchronization Therapy) Unknown status NCT02592889 Phase 4
7 Abrogation of Mitral Regurgitation Using the MitraClip System in High-Risk Patients Unsuitable for Surgery Unknown status NCT01431222 Phase 4
8 Surgical Treatment of Ischemic Mitral Regurgitation Unknown status NCT01368575 Phase 4
9 The Pacing vs No Pacing Study - PNP Study Unknown status NCT02498639 Phase 4
10 Desflurane-induced Myocardial Protection Unknown status NCT02019797 Phase 4 Desflurane
11 Effect of Ranolazine on Valvular Disease in Patients With Pacemakers Unknown status NCT01979965 Phase 4 Ranolazine (Active drug);Placebo
12 A Randomized Trial of Angiotensin Receptor bLocker,Fimasartan, in Aortic Stenosis (ALFA Trial) Unknown status NCT01589380 Phase 4 Fimasartan;Placebo
13 Physiological Response to Heliox21 and Air O2 Unknown status NCT01498432 Phase 4 Heliox21;Air O2
14 Acute Haemodynamic Effects of Treatment With Angiotensin Converting Enzyme (ACE)-Inhibitors in Patients With Symptomatic Aortic Stenosis Unknown status NCT00252317 Phase 4 Captopril and Trandolapril;Captopril Test Dose and Trandolapril
15 Pilot Study of Lovaza (Omega 3 Fatty Acids) to Improve Cardiac Antioxidant/Anti-inflammatory Profile Before Cardiac Surgery Unknown status NCT01046604 Phase 4 Lovaza group
16 Endothelial Progenitors in Aortic Stenosis: Association With Aortic Stenosis Progression and Severity Unknown status NCT02060071 Phase 4
17 Comparative Study of Non-Invasive Mask Ventilation vs Cuirass Ventilation in Patients With Acute Respiratory Failure. Unknown status NCT00331656 Phase 4
18 Study of Administration Of Antithrombin in Patients With Low Plasmatic Levels of Antithrombin After Cardiac Surgery Unknown status NCT01201070 Phase 4 antithrombin III
19 Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Cardiomyopathy Unknown status NCT00879060 Phase 4 spironolactone
20 Immunonutrition and Thoracoabdominal Aorta Aneurysm Repair Unknown status NCT00339053 Phase 4 Immunonutrition ( Impact)
21 Effect of Propofol on Renal Injury in Patients Undergoing Valvular Heart Surgery Completed NCT01384643 Phase 4 Propofol
22 The Effects of Levosimendan on Haemodynamics in Patients Undergoing Elective Aortic Valve Replacement (AVR)Together With Coronary Artery Bypass Grafting (CABG) Surgery Completed NCT01210976 Phase 4 levosimendan;placebo
23 Effect of Combined Remote Ischemic Preconditioning and Postconditioning on Acute Pulmonary Injury in Patients Undergoing Valvular Heart Surgery Completed NCT01427621 Phase 4
24 A Randomized Clinical Trial of Metoprolol in Participants With Mitral Regurgitation. Completed NCT00166400 Phase 4 metoprolol succinate
25 Comparative Effects of Dexmedetomidine and Ketofol for Sedation in Patients Undergoing Trans-esophageal Echocardiography Completed NCT02867930 Phase 4 Dexmedetomidine;Ketofol(ketamine+propofol)
26 Sildenafil for Secondary Pulmonary Hypertension Due to Valvular Disease Completed NCT00862043 Phase 4 Sildenafil Citrate;Placebo
27 Effect of Anesthetics on CD39 and CD73 After Open-heart Surgery Completed NCT02136979 Phase 4 Propofol;Sevoflurane
28 Propofol Effects on Mitral Valve Annular Velocity Completed NCT01826149 Phase 4 Propofol 1.0mcg;Propofol 2.0mcg;Propofol 3.0mcg
29 Humanalbumin, Hydroxyethylstarch and Ringer Lactate During Cardiac Surgery Completed NCT01174719 Phase 4 volume replacement;Humanalbumin 5%;volume replacement
30 The Cortisol Levels During Cardiac Surgery. The Comparison Between Etomidate and Thiopentone Completed NCT01495949 Phase 4 etomidate;thiopentone
31 Randomized Isoflurane and Sevoflurane Comparison in Cardiac Surgery Completed NCT01477151 Phase 4 Volatile anesthetic
32 Ontario Multidetector Computed Tomographic (MDCT) Coronary Angiography Study (OMCAS) Completed NCT00371891 Phase 4
33 The Use of Paravertebral Block for Cardiac Surgery Completed NCT02180893 Phase 4
34 The Effects of Levosimendan During Mitral Valve Surgery Completed NCT01969071 Phase 4 Levosimendan;Dobutamine
35 Beating Versus Arrested Heart for Mitral Valve Replacement Completed NCT01641614 Phase 4
36 CG Future® Annuloplasty Ring/Band Clinical Trial Completed NCT01074671 Phase 4
37 Angiotensin-II Blockade in Mitral Regurgitation Completed NCT00587470 Phase 4 Candesartan;atacand;Placebo
38 Pharmacological Reduction of Functional, Ischemic Mitral REgurgitation Completed NCT02687932 Phase 4 LCZ696;Valsartan
39 The Safety and Efficacy of Tolvaptan for Patients With Tricuspid Regurgitation and Right Heart Failure After Left Heart Valves Replacement Completed NCT02644616 Phase 4 tolvaptan+torasemide;placebo+torasemide
40 Tricuspid Regurgitation Study Completed NCT01093001 Phase 4
41 Cerebral Embolic Load in Patients Undergoing Surgical Aortic Valve Replacement: A Comparison of the Conventional With the Minimized Extracorporeal Circulation Technique Using Transcranial Doppler Ultrasound Completed NCT02308566 Phase 4
42 Platelet Reactivity After TAVI: A Multicenter Pilot Study Completed NCT02224066 Phase 4 Ticagrelor 90 mg twice per day during three months following TAVI;Aspirin 100 mg plus Clopidogrel 75 mg daily during three months following TAVI
43 Effect of Beta Blockade on Left Ventricular Remodeling and Function in Moderate to Severe Asymptomatic Aortic Regurgitation Completed NCT01157572 Phase 4 Metoprolol;Placebo
44 REST Study: Left Ventricular Regression European Study Completed NCT00256165 Phase 4
45 Effect of Neuromuscular Blockade and Reversal on Breathing Completed NCT02845375 Phase 4 Sugammadex;Neostigmine;Placebo
46 Effect of Non-invasive Ventilation (NIV) on Cerebral Oxygenation Completed NCT02454582 Phase 4
47 Acute Hemodynamic Effects of Sildenafil in Patients With Severe Aortic Stenosis Completed NCT01060020 Phase 4 Sildenafil
48 Platelet Function And Aggregometry In Patients With Aortic Valve Stenosis Completed NCT00156520 Phase 4 aprotonin; epsilon aminocaproic acid
49 Effects of Remifentanil on Respiratory Function in Mechanically Ventilated Patients Completed NCT00665119 Phase 4 remifentanil;placebo
50 B-type Natriuretic Peptide (BNP)-Guided Diagnostic Strategy in Intensive Care Unit (ICU) Patients With Respiratory Failure Completed NCT00130559 Phase 4

Search NIH Clinical Center for Cardiac Valvular Defect, Developmental

Genetic Tests for Cardiac Valvular Defect, Developmental

Genetic tests related to Cardiac Valvular Defect, Developmental:

# Genetic test Affiliating Genes
1 Cardiac Valvular Defect, Developmental 30 PLD1

Anatomical Context for Cardiac Valvular Defect, Developmental

MalaCards organs/tissues related to Cardiac Valvular Defect, Developmental:

42
Heart, Lung, Testes, Kidney, Brain, Endothelial, Liver

Publications for Cardiac Valvular Defect, Developmental

Articles related to Cardiac Valvular Defect, Developmental:

(show top 50) (show all 130)
# Title Authors Year
1
Heart Valve Disease Awareness Survey 2017: what did we achieve since 2015? ( 29943272 )
2019
2
Murmur clinic: validation of a new model for detecting heart valve disease. ( 30049836 )
2019
3
Correction to: Heart Valve Disease Awareness Survey 2017: what did we achieve since 2015? ( 30155733 )
2019
4
3D printing for heart valve disease: a systematic review. ( 30771098 )
2019
5
Heart valve disease in elderly. ( 30820277 )
2019
6
von Willebrand Factor and Management of Heart Valve Disease: JACC Review Topic of the Week. ( 30846101 )
2019
7
Bacterial infiltration in structural heart valve disease. ( 30885626 )
2019
8
Commentary: Bacterial infiltration in structural heart valve disease-Do these new insights have profound consequences? ( 30961985 )
2019
9
Periodontal bacteria DNA findings in human cardiac tissue - Is there a link of periodontitis to heart valve disease? ( 29197463 )
2018
10
What's hot in heart valve disease 2018? ( 29334507 )
2018
11
Comorbid TNF-mediated heart valve disease and chronic polyarthritis share common mesenchymal cell-mediated aetiopathogenesis. ( 29475857 )
2018
12
Comprehensive microRNA profiling reveals potential augmentation of the IL1 pathway in rheumatic heart valve disease. ( 29548280 )
2018
13
Antiphospholipid Antibodies and Heart Valve Disease in Systemic Lupus Erythematosus. ( 29549933 )
2018
14
Patient-Specific MRI-Based CFD for Optimizing Surgical Decision Making in Heart Valve Disease. ( 29667252 )
2018
15
Engineering a 3D-Bioprinted Model of Human Heart Valve Disease Using Nanoindentation-Based Biomechanics. ( 29751516 )
2018
16
The Right Heart-Pulmonary Circulation Unit and Left Heart Valve Disease. ( 29966640 )
2018
17
Heart Valve Disease Predict Mortality in Hemodialysis Patients: A Single Center Experience. ( 30421548 )
2018
18
Autoantibodies to types I and IV collagen and heart valve disease in systemic lupus erythematosus/antiphospholipid syndrome. ( 28283766 )
2017
19
DNA methylation dysregulations in rheumatic heart valve disease. ( 28623907 )
2017
20
Standardization of adult transthoracic echocardiography reporting in agreement with recent chamber quantification, diastolic function, and heart valve disease recommendations: an expert consensus document of the European Association of Cardiovascular Imaging. ( 29045589 )
2017
21
Regulation of valve interstitial cell homeostasis by mechanical deformation: implications for heart valve disease and surgical repair. ( 29046338 )
2017
22
Cardiovascular magnetic resonance in the evaluation of heart valve disease. ( 29284450 )
2017
23
What's hot in heart valve disease 2017? ( 28067716 )
2017
24
Clinical information has low sensitivity for postmortem diagnosis of heart valve disease. ( 28183793 )
2017
25
Selection of the Best of 2016 in Echocardiography in Heart Valve Disease. ( 28254138 )
2017
26
Evaluating Health of Emerging Economies Through the Eyes of Heart Valve Disease in the Transcatheter Era. ( 28433490 )
2017
27
Appropriateness criteria for the use of cardiovascular imaging in heart valve disease in adults: a European Association of Cardiovascular Imaging report of literature review and current practice. ( 28586420 )
2017
28
Congenital valvular defects associated with deleterious mutations in the PLD1 gene. ( 27799408 )
2017
29
Deregulation of TNF expression can also cause heart valve disease. ( 26321488 )
2016
30
The modern epidemiology of heart valve disease. ( 26541169 )
2016
31
Tricuspid Annuloplasty for Tricuspid Regurgitation Secondary to Left-Sided Heart Valve Disease: Immediate Outcomes and Risk Factors for Late Failure. ( 26777269 )
2016
32
Heart valve disease: looking back and moving forward. ( 26841326 )
2016
33
Changing causes of heart valve disease mortality in New Zealand from 1988 to 2007. ( 26914193 )
2016
34
Detecting heart valve disease: can we do better? ( 26917654 )
2016
35
Multimodality imaging in heart valve disease. ( 26977308 )
2016
36
Native T1 Relaxation Time and Extracellular Volume Fraction as Accurate Markers of Diffuse Myocardial Fibrosis in Heart Valve Disease - Comparison With Targeted Left Ventricular Myocardial Biopsy. ( 26984717 )
2016
37
Prevalence of Rheumatic Heart Disease in the Pacific: From Subclinical to Symptomatic Heart Valve Disease. ( 27012412 )
2016
38
Prof. David S. Bach: heart valve disease. ( 27054110 )
2016
39
Aortic valve stenosis: what do people know? A heart valve disease awareness survey of over 8,800 people aged 60 or over. ( 27283409 )
2016
40
Pregnancy and native heart valve disease. ( 27390366 )
2016
41
Heart valve disease in elderly Chinese population: effect of advanced age and comorbidities on treatment decision-making and outcomes. ( 27605940 )
2016
42
'Black box warning' on food and drug administration criteria for drug-induced heart valve disease? ( 25535216 )
2015
43
How should specialist competencies in heart valve disease be recognized? ( 25609702 )
2015
44
Heart valve disease in general practice: a clinical overview. ( 25733443 )
2015
45
Failing stentless Bioprostheses in patients with carcinoid heart valve disease. ( 25880286 )
2015
46
Carcinoid Heart Valve Disease: Transcatheter Pulmonary Valve-In-Valve Implantation in Failing Biological Xenografts. ( 26182628 )
2015
47
Spontaneous retrotransposon insertion into TNF 3'UTR causes heart valve disease and chronic polyarthritis. ( 26195802 )
2015
48
Methylphenidate: pulmonary hypertension and heart valve disease. ( 26436168 )
2015
49
Automatic extraction of forward stroke volume using dynamic PET/CT: a dual-tracer and dual-scanner validation in patients with heart valve disease. ( 26501826 )
2015
50
Aortic regurgitation and heart valve disease in mice. ( 26623080 )
2015

Variations for Cardiac Valvular Defect, Developmental

UniProtKB/Swiss-Prot genetic disease variations for Cardiac Valvular Defect, Developmental:

76
# Symbol AA change Variation ID SNP ID
1 PLD1 p.His442Pro VAR_078985 rs769669104

ClinVar genetic disease variations for Cardiac Valvular Defect, Developmental:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PLD1 NM_002662.4(PLD1): c.1325A> C (p.His442Pro) single nucleotide variant Pathogenic rs769669104 GRCh37 Chromosome 3, 171410135: 171410135
2 PLD1 NM_002662.4(PLD1): c.1325A> C (p.His442Pro) single nucleotide variant Pathogenic rs769669104 GRCh38 Chromosome 3, 171692345: 171692345
3 PLD1 NM_002662.4(PLD1): c.1484_1485delCA (p.Thr495Argfs) deletion Pathogenic rs778311238 GRCh37 Chromosome 3, 171406520: 171406521
4 PLD1 NM_002662.4(PLD1): c.1484_1485delCA (p.Thr495Argfs) deletion Pathogenic rs778311238 GRCh38 Chromosome 3, 171688730: 171688731
5 PLD1 NM_002662.4(PLD1): c.2882+2T> C single nucleotide variant Pathogenic rs1085307450 GRCh37 Chromosome 3, 171330067: 171330067
6 PLD1 NM_002662.4(PLD1): c.2882+2T> C single nucleotide variant Pathogenic rs1085307450 GRCh38 Chromosome 3, 171612277: 171612277

Expression for Cardiac Valvular Defect, Developmental

Search GEO for disease gene expression data for Cardiac Valvular Defect, Developmental.

Pathways for Cardiac Valvular Defect, Developmental

GO Terms for Cardiac Valvular Defect, Developmental

Sources for Cardiac Valvular Defect, Developmental

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70 SNOMED-CT via HPO
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