CVDD
MCID: CRD220
MIFTS: 29

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 57 72 36 29 6 39
Cvdd 57 72
Developmental Cardiac Valvular Defect 12
Heart Valve Disease 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
cardiac valvular defect, developmental:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cardiac Valvular Defect, Developmental

KEGG : 36 Cardiac valvular defect, developmental (CVDD) is non-syndromic severe congenital valve malformation. The identification of loss-of-function mutations in the PLD1 gene in two unrelated families with CVDD has been reported.

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

Disease Ontology : 12 A physical disorder that has material basis in homozygous or compound heterozygous mutation in the PLD1 gene on chromosome 3q26.

UniProtKB/Swiss-Prot : 72 Cardiac valvular defect, developmental: An autosomal recessive form of congenital heart defects, characterized by valvular malformations involving the pulmonic, tricuspid and mitral valves.

More information 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:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 31 HP:0000023
2 hydrops fetalis 31 HP:0001789
3 mitral valve prolapse 31 HP:0001634
4 hydronephrosis 31 HP:0000126
5 tricuspid atresia 31 HP:0011662
6 hydroureter 31 HP:0000072
7 mitral stenosis 31 HP:0001718
8 tricuspid valve prolapse 31 HP:0001704
9 tricuspid regurgitation 31 HP:0005180
10 edema 31 HP:0000969
11 patent foramen ovale 31 HP:0001655
12 urethral diverticulum 31 HP:0008722
13 arteria lusoria 31 HP:0031014

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

UMLS symptoms related to Cardiac Valvular Defect, Developmental:


angina pectoris; chest pain; edema; 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 109)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amiodarone Approved, Investigational Phase 4 1951-25-3 2157
2
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
3
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
4
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
5
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
6
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
7
Metoprolol Approved, Investigational Phase 4 51384-51-1, 37350-58-6 4171
8
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 70-16-6, 59-43-8 1130
9
Simendan Investigational Phase 4 131741-08-7
10 Anesthetics Phase 4
11 Hypnotics and Sedatives Phase 4
12 Vecuronium Bromide Phase 4 50700-72-6
13 Anesthetics, General Phase 4
14 Anesthetics, Intravenous Phase 4
15 Adrenergic alpha-Agonists Phase 4
16 Anesthetics, Dissociative Phase 4
17 Excitatory Amino Acid Antagonists Phase 4
18 Adrenergic Agonists Phase 4
19 Adrenergic Agents Phase 4
20 Neurotransmitter Agents Phase 4
21 Analgesics Phase 4
22 Analgesics, Non-Narcotic Phase 4
23 Vasodilator Agents Phase 4
24 Cardiotonic Agents Phase 4
25 Phosphodiesterase 3 Inhibitors Phase 4
26 Phosphodiesterase Inhibitors Phase 4
27 Protective Agents Phase 4
28 Thiamin Phase 4
29 Anti-Arrhythmia Agents Phase 4
30 Adrenergic beta-Antagonists Phase 4
31 Adrenergic Antagonists Phase 4
32 Adrenergic beta-1 Receptor Antagonists Phase 4
33 Antihypertensive Agents Phase 4
34 Sympatholytics Phase 4
35
Inositol Approved, Investigational, Withdrawn Phase 2, Phase 3 87-89-8
36
Atorvastatin Approved Phase 3 134523-00-5 60823
37
Folic acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
38 Trace Elements Phase 2, Phase 3
39 Nutrients Phase 2, Phase 3
40 Vitamin B9 Phase 2, Phase 3
41 Vitamin B Complex Phase 2, Phase 3
42 Folate Phase 2, Phase 3
43 Micronutrients Phase 2, Phase 3
44 Vitamins Phase 2, Phase 3
45 Anticholesteremic Agents Phase 3
46 Antimetabolites Phase 3
47 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
48 Hypolipidemic Agents Phase 3
49 Lipid Regulating Agents Phase 3
50
Nitric Oxide Approved Phase 1, Phase 2 10102-43-9 145068

Interventional clinical trials:

(show top 50) (show all 74)
# 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 Effect of Propofol on Renal Injury in Patients Undergoing Valvular Heart Surgery: A Prospective, Randomized Controlled Trial Completed NCT01384643 Phase 4 Propofol
3 Comparative Effects of Dexmedetomidine and Ketofol for Sedation in Out-patients Undergoing Diagnostic Trans-esophageal Echocardiography: A Randomized Controlled Trial Completed NCT02867930 Phase 4 Dexmedetomidine;Ketofol(ketamine+propofol)
4 The Effects of Levosimendan on Haemodynamics in Patients Undergoing Elective Aortic Valve Replacement (AVR)Together With Coronary Artery Bypass Grafting Completed NCT01210976 Phase 4 levosimendan;placebo
5 Effect of Combined Remote Ischemic Preconditioning and Postconditioning on Acute Pulmonary Injury in Patients Undergoing Valvular Heart Surgery Completed NCT01427621 Phase 4
6 Beta Blockade in Mitral Regurgitation Completed NCT00166400 Phase 4 metoprolol succinate
7 Anticoagulation Treatment Influence on Post-operative Patients -Action SJM EPIC Trial Withdrawn NCT00187304 Phase 4
8 Value of Oral Phytate (InsP6) in the Prevention of Progression of the Cardiovascular Calcifications Unknown status NCT01000233 Phase 2, Phase 3
9 Perioperative Infusion of Dexmedetomidine Improves Outcomes of Cardiovascular Surgery Completed NCT02237495 Phase 2, Phase 3 dexmedetomidine;placebo
10 Atrovastatin for Preventing Atrial Fibrillation Following Open Cardiac Valve Repair Completed NCT02084069 Phase 3 Atorvastatin
11 Clinical Trial Comparing a Conventional Median Sternotomy Versus a Minimally Invasive Technique for Aortic Valvular Replacement in Adults Terminated NCT00221663 Phase 2, Phase 3
12 CopenHeartVR - A Randomized Clinical Trial Investigating the Effect of Integrated Rehabilitation Versus Usual Care Without Physical Exercise After Heart Valve Surgery. Completed NCT01558765 Phase 2
13 Prevention of Renal Failure by Nitric Oxide in Prolonged Cardiopulmonary Bypass: A Double Blind Randomized Controlled Trial. Completed NCT01802619 Phase 1, Phase 2
14 An Open Label Phase I/II Study of the Safety and Efficacy of Cyclophosphamide, Bortezomib (VELCADE), Pegylated Liposomal Doxorubicin (DOXIL), and Dexamethasone, (CVDD) in Newly Diagnosed Patients With Multiple Myeloma Completed NCT00750815 Phase 1, Phase 2 Cyclophosphamide;Bortezomib; Pegylated Liposomal Doxorubicin; Dexamethasone (VDD)
15 RiaSTAP vs. Conventional Transfusion for Patients Undergoing Valve Replacement Surgery: RiaCT Terminated NCT01283321 Phase 2 Human fibrinogen concentrate
16 A Randomised, Phase II Study to Evaluate the sAfety and Pharmacokinetics of oraL dabIGatran Etexilate in Patients After Heart Valve replacemeNt Terminated NCT01452347 Phase 2 warfarin 1mg;dabigatran etexilate intermediate dose;dabigatran etexilate low dose;warfarin 5mg;dabigatran etexilate high dose;warfarin 3mg
17 Assessment of Cardiotoxicity by Cardiac MRI Versus MUGA Scans in Breast Cancer Patients Receiving Trastuzumab: A Double-Blinded Prospective Observational Pilot Study Unknown status NCT01022086
18 Effects of Hyperoxia on Oxidative Stress in Patients Undergoing Open Heart Surgery Unknown status NCT03012997
19 coRonary assEssment of Preoperative vaLvulopathy pAtients Using ComputEd Tomographic Angiography (REPLACE) Unknown status NCT02632617
20 Study of Acupuncture of Traditional Chinese Medicine Unknown status NCT01231776
21 A Study to Collect Additional Information Related to the Performance of the CARDIOGARD Cannula Unknown status NCT02764645
22 Femorofemoral Bypass in Redo Cardiac Surgery: A Safe and Effective Operative Technique Unknown status NCT03624738
23 Multicenter Prospective Cohort Study of Senile Hospitalized Patients With Valvular Heart Disease Unknown status NCT02865798
24 A National, Multicenter Study on Fibrotic Valvular Heart Disease in Patients With Parkinson´s Disease Treated With Dopamine Agonists Unknown status NCT00196898
25 Use of Standardized Diagnostic Imaging Data (Computertomography, Angiography, Echocardiography) for Image Fusion in the Hybrid Operating Room Unknown status NCT01821651
26 Cardioprotective Effects of Sodium Creatine Phosphate in Valve Surgery: A Prospective Randomized Controlled Study Unknown status NCT03186053 sodium creatine phosphate;saline
27 Etude Observationnelle Des Valvulopathies Chez Les Patients Parkinsoniens Traites Par Pergolide Par Rapport a Une Population Temoin Completed NCT00202657
28 Effect of Heart Valve Replacement on Cheyne-Stokes Respiration in Patients With Rheumatic Heart Disease Completed NCT01426776
29 Effect of Remote Ischemic Preconditioning on Acute Kidney Injury in Patients Undergoing Heart Valve Replacement Surgery With Cardiopulmonary Bypass Completed NCT01023152
30 Aortic Replacement Using Individualised Regenerative Allografts: Bridging the Therapeutic Gap - ARISE (the "Surveillance") Completed NCT02527629
31 Clinical Evaluation of the Size 23mm Carpentier-Edwards PERIMOUNT Magna Mitral Bioprosthesis, Model 7000TFX Completed NCT01312779
32 Magnetic Resonance Imaging and Fibrosis: Histological and Functional Changes in Left Ventricular Function Caused by Aortic Valve Disease Completed NCT02790008
33 European Clinical Study for the Application of Regenerative Heart Valves - ESPOIR Completed NCT02035540
34 D-dimer Levels Determined the Intensity of Anticoagulation Therapy to Improve Outcomes in Patients With Mechanical Valve Replacement Completed NCT01996657 Warfarin
35 Melody TPV Post-Market Surveillance Study Completed NCT00688571
36 Clinical Investigation Of The Mitroflow Aortic Pericardial Heart Valve Completed NCT00630916
37 Clinical Investigation of the Freedom SOLO Stentless Heart Valve Completed NCT00876525
38 Comparison of Automated Fastener Device Versus Manually Tied Knot in Minimally-invasive Isolated Aortic Valve Replacement Surgery Completed NCT03664102
39 Warfarin Dosing Algorithm for Personalized Warfarin Pharmacotherapy in Korean Patients Completed NCT01178502
40 Impact of Prosthesis-Patient Mismatch on Clinical Outcomes After Mitral Valve Replacement Completed NCT00629902
41 Machine Learning-Based Risk Profile Classification of Patients Undergoing Elective Heart Valve Surgery Completed NCT03724123
42 ATS 3f Enable(tm) Aortic Bioprosthesis, Model 6000 Completed NCT01116024
43 Normothermiс Cardiopulmonary Bypass Increases Cerebral Oxygenation During Combined Valve Surgery: Single Center, Randomized Trial Completed NCT01685554
44 Monitoring of Anesthetic Depth During Surgical Correction of Acquired Valvular Disorders Completed NCT01524354
45 Post-Approval Study Protocol of the St. Jude Medical Trifecta Valve Completed NCT01514162
46 The Effects of Anesthetic Management on Oxidative Injuries After Cardiopulmonary Bypass Completed NCT00745810
47 The Perioperative Effect of Corticosteroid Prophylaxis on the Cardiopulmonary Bypass-Induced Systemic Inflammatory Response Completed NCT01296074 Corticosteroid
48 Hancock II Ultra Porcine Bioprosthesis Hemodynamic Study Completed NCT01213615
49 Effect of Remote Ischemia Preconditioning on Myocardial Injury in Patients Undergoing Heart Valve Surgery Completed NCT01175681
50 SEP-study; The Assessment of Normal Values in Stress Echocardiographic Parameters in Patients After Successful Mitral Valve Repair for Organic Mitral Valve Regurgitation Completed NCT02371863

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 29 PLD1

Anatomical Context for Cardiac Valvular Defect, Developmental

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

40
Heart

Publications for Cardiac Valvular Defect, Developmental

Articles related to Cardiac Valvular Defect, Developmental:

# Title Authors PMID Year
1
Congenital valvular defects associated with deleterious mutations in the PLD1 gene. 6 57
27799408 2017
2
A pilot study of daunorubicin-augmented hyper-CVAD induction chemotherapy for adults with acute lymphoblastic leukemia. 61
29294168 2018
3
An open-label phase I/II study of cyclophosphamide, bortezomib, pegylated liposomal doxorubicin, and dexamethasone in newly diagnosed myeloma. 61
25600676 2015

Variations for Cardiac Valvular Defect, Developmental

ClinVar genetic disease variations for Cardiac Valvular Defect, Developmental:

6 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PLD1 NM_002662.5(PLD1):c.1325A>C (p.His442Pro) SNV Pathogenic 426089 rs769669104 GRCh37: 3:171410135-171410135
GRCh38: 3:171692345-171692345
2 PLD1 NM_002662.5(PLD1):c.1482_1483CA[1] (p.Thr495fs) Microsatellite Pathogenic 426090 rs778311238 GRCh37: 3:171406520-171406521
GRCh38: 3:171688730-171688731
3 PLD1 NM_002662.5(PLD1):c.2882+2T>C SNV Pathogenic 426091 rs1085307450 GRCh37: 3:171330067-171330067
GRCh38: 3:171612277-171612277
4 PLD1 NM_002662.4:c.912delG Deletion Pathogenic 998247 GRCh37: 3:171427499-171427499
GRCh38: 3:171709709-171709709
5 PLD1 NM_002662.5(PLD1):c.1597C>T (p.Gln533Ter) SNV Pathogenic 1029619 GRCh37: 3:171405317-171405317
GRCh38: 3:171687527-171687527
6 PLD1 NM_002662.5(PLD1):c.1219C>T (p.Arg407Ter) SNV Likely pathogenic 992233 GRCh37: 3:171417543-171417543
GRCh38: 3:171699753-171699753
7 PLD1 NM_002662.5(PLD1):c.498del (p.Ser167fs) Deletion Likely pathogenic 992976 GRCh37: 3:171452697-171452697
GRCh38: 3:171734907-171734907
8 PLD1 NM_002662.5(PLD1):c.2543+1G>T SNV Likely pathogenic 1033939 GRCh37: 3:171362699-171362699
GRCh38: 3:171644909-171644909
9 PLD1 NM_002662.5(PLD1):c.2569A>G (p.Ile857Val) SNV Uncertain significance 1033940 GRCh37: 3:171360654-171360654
GRCh38: 3:171642864-171642864
10 PLD1 NM_002662.5(PLD1):c.893G>A (p.Arg298Gln) SNV Uncertain significance 1033941 GRCh37: 3:171431701-171431701
GRCh38: 3:171713911-171713911
11 PLD1 NM_002662.5(PLD1):c.91C>T (p.Arg31Trp) SNV Uncertain significance 1029620 GRCh37: 3:171455751-171455751
GRCh38: 3:171737961-171737961
12 PLD1 NM_002662.5(PLD1):c.1319G>A (p.Arg440His) SNV Uncertain significance 1030180 GRCh37: 3:171410141-171410141
GRCh38: 3:171692351-171692351
13 PLD1 NM_002662.5(PLD1):c.2620T>G (p.Ser874Ala) SNV Uncertain significance 1031123 GRCh37: 3:171338284-171338284
GRCh38: 3:171620494-171620494
14 PLD1 NM_002662.5(PLD1):c.269G>A (p.Arg90His) SNV Uncertain significance 1031124 GRCh37: 3:171455341-171455341
GRCh38: 3:171737551-171737551
15 PLD1 NM_002662.5(PLD1):c.1543G>A (p.Ala515Thr) SNV Uncertain significance 1033938 GRCh37: 3:171405371-171405371
GRCh38: 3:171687581-171687581

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

72
# Symbol AA change Variation ID SNP ID
1 PLD1 p.His442Pro VAR_078985 rs769669104

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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