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 56 73 36 29 6 39
Cvdd 56 73
Developmental Cardiac Valvular Defect 12
Heart Valve Disease 71

Characteristics:

OMIM:

56
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 edema, chest pain and angina pectoris. An important gene associated with Cardiac Valvular Defect, Developmental is PLD1 (Phospholipase D1). The drugs Amiodarone and Propofol have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and breast, and related phenotypes are inguinal hernia and edema

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 : 73 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 edema 31 HP:0000969
3 hydrops fetalis 31 HP:0001789
4 mitral valve prolapse 31 HP:0001634
5 hydronephrosis 31 HP:0000126
6 tricuspid atresia 31 HP:0011662
7 hydroureter 31 HP:0000072
8 mitral stenosis 31 HP:0001718
9 tricuspid valve prolapse 31 HP:0001704
10 tricuspid regurgitation 31 HP:0005180
11 patent foramen ovale 31 HP:0001655
12 arteria lusoria 31 HP:0031014
13 urethral diverticulum 31 HP:0008722

Symptoms via clinical synopsis from OMIM:

56
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:


edema, chest pain, angina pectoris, 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 140)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amiodarone Approved, Investigational Phase 4 1951-25-3 2157
2
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
3
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
4
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
5
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
6
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
7
Remifentanil Approved Phase 4 132875-61-7 60815
8
Ephedrine Approved Phase 4 299-42-3 9294
9
Pseudoephedrine Approved Phase 4 90-82-4 7028
10
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
11
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 59-43-8, 70-16-6 1130
12
Simendan Investigational Phase 4 131741-08-7
13 Adrenergic Agents Phase 4
14 Neurotransmitter Agents Phase 4
15 Vecuronium Bromide Phase 4 50700-72-6
16 Anesthetics, General Phase 4
17 Hypnotics and Sedatives Phase 4
18 Anesthetics, Intravenous Phase 4
19 Cardiotonic Agents Phase 4
20 Phosphodiesterase Inhibitors Phase 4
21 Phosphodiesterase 3 Inhibitors Phase 4
22 Vasodilator Agents Phase 4
23 Thiamin Phase 4
24 Protective Agents Phase 4
25 Adrenergic alpha-Agonists Phase 4
26 Excitatory Amino Acid Antagonists Phase 4
27 Anesthetics, Dissociative Phase 4
28 Analgesics, Non-Narcotic Phase 4
29 Adrenergic Agonists Phase 4
30 Narcotics Phase 4
31 Analgesics, Opioid Phase 4
32 Analgesics Phase 4
33
Clopidogrel Approved Phase 3 113665-84-2, 120202-66-6 60606
34
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
35
Warfarin Approved Phase 2, Phase 3 81-81-2 6691 54678486
36
Phylloquinone Approved, Investigational Phase 2, Phase 3 84-80-0
37
Rivaroxaban Approved Phase 2, Phase 3 366789-02-8
38
Folic acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
39
Menadione Approved, Nutraceutical Phase 2, Phase 3 58-27-5 4055
40 Menaquinone Investigational Phase 2, Phase 3 1182-68-9
41 Vitamin B Complex Phase 2, Phase 3
42 Folate Phase 2, Phase 3
43 Vitamin B9 Phase 2, Phase 3
44 Antirheumatic Agents Phase 3
45 Anti-Inflammatory Agents Phase 3
46 Platelet Aggregation Inhibitors Phase 3
47 Fibrinolytic Agents Phase 3
48 Purinergic P2Y Receptor Antagonists Phase 3
49 Cyclooxygenase Inhibitors Phase 3
50 Antipyretics Phase 3

Interventional clinical trials:

(show top 50) (show all 66)
# 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 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
4 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)
5 Effects of Remifentanil on Diastolic and Systolic Function in Patients With Diastolic Dysfunction Recruiting NCT04117009 Phase 4 Remifentanil 2 MG
6 Anticoagulation Treatment Influence on Post-operative Patients -Action SJM EPIC Trial Withdrawn NCT00187304 Phase 4
7 Value of Oral Phytate (InsP6) in the Prevention of Progression of the Cardiovascular Calcifications Unknown status NCT01000233 Phase 2, Phase 3
8 Randomized Comparison of a Rivaroxaban-based Strategy With an Antiplatelet-based Strategy Following Successful TAVR for the Prevention of Leaflet Thickening and Reduced Leaflet Motion as Evaluated by Four-dimensional, Volume-rendered Computed Tomography (4DCT) - Substudy of the GALILEO-trial Completed NCT02833948 Phase 3 Acetylsalicylic acid;Clopidogrel;Rivaroxaban
9 Rivaroxaban vs Warfarin in Patients With Metallic Prosthesis Terminated NCT03566303 Phase 2, Phase 3 Rivaroxaban 15 mg;Warfarin
10 Proprotein Convertase Subtilisin Kexin Type 9 Inhibitor in Aortic Stenosis Unknown status NCT03051360 Phase 2 PCSK9 Inhibitor [EPC];Placebos
11 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)
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 A Pilot Study of Rituximab for the Anticoagulation Resistant Manifestations of Antiphospholipid Syndrome (RITAPS) Completed NCT00537290 Phase 2 Rituximab
14 The Safety and Efficacy of the Enhanced Recovery After Surgery(ERAS) Applied on Cardiac Surgery With Cardiopulmonary Bypass: a Single Center, Randomized, Controlled Clinical Study Completed NCT02479581 Phase 2
15 Myocardial Efficiency of the Left Ventricle in Asymptomatic Patients With Aortic Valve Stenosis - a Prognostic Marker and a Target for Intervention? Completed NCT02076711 Phase 2 Metoprololsuccinate;Placebo
16 V-Chordal Adjustable System for Chordal Replacement in Mitral Valve Insufficiency Due to Leaflet Prolapse Terminated NCT01415947 Phase 2
17 RiaSTAP vs. Conventional Transfusion for Patients Undergoing Valve Replacement Surgery: RiaCT Terminated NCT01283321 Phase 2 Human fibrinogen concentrate
18 Beta-Blockade in Chronic Mitral Regurgitation: Moving From the Laboratory Experiment to Clinical Investigation Terminated NCT00700947 Phase 1 Beta-blocker therapy (TOPROL-XL® )
19 Infective Endocarditis in Developing Countries, a Prospective, Observational, Multicentre Study Unknown status NCT02128139
20 Effects of Hyperoxia on Oxidative Stress in Patients Undergoing Open Heart Surgery Unknown status NCT03012997
21 Clinical Trial of The Myocardial Protective Effects of Repeated Electroacupuncture Preconditioning in Heart Valve Replacement Surgery Unknown status NCT00732459
22 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
23 A Pilot,Randomized Controlled-trial of Lipoprotein(a) Lowering for the Prevention of Aortic Valve Disease-translating Genomic Knowledge for Cardiovascular Prevention Unknown status NCT02109614 Early Phase 1 Extended release Niacin;Placebo Comparator
24 Clinical and Genetic Examinations of Dilated Cardiomyopathy Unknown status NCT02148926
25 The Institute of Cardiovascular Surgery Completed NCT01246141
26 Etude Observationnelle Des Valvulopathies Chez Les Patients Parkinsoniens Traites Par Pergolide Par Rapport a Une Population Temoin Completed NCT00202657
27 Contribution of the Scanner in the Coronary Evaluation Before Valvular Replacement Completed NCT00484380
28 Effect of Remote Ischemia Preconditioning on Myocardial Injury in Patients Undergoing Heart Valve Surgery Completed NCT01175681
29 Effect of Heart Valve Replacement on Cheyne-Stokes Respiration in Patients With Rheumatic Heart Disease Completed NCT01426776
30 Effect of Remote Ischemic Preconditioning on Acute Kidney Injury in Patients Undergoing Heart Valve Replacement Surgery With Cardiopulmonary Bypass Completed NCT01023152
31 Clinical Evaluation of the Size 23mm Carpentier-Edwards PERIMOUNT Magna Mitral Bioprosthesis, Model 7000TFX Completed NCT01312779
32 New Physiopathogenics Mechanisms Susceptible of Pharmacological Developments (Insulin Resistance and Atherosclerosis) Completed NCT00520962
33 European Clinical Study for the Application of Regenerative Heart Valves - ESPOIR Completed NCT02035540
34 Aortic Replacement Using Individualised Regenerative Allografts: Bridging the Therapeutic Gap - ARISE (the "Surveillance") Completed NCT02527629
35 The PARTNER II Trial "Placement of AoRTic TraNscathetER" Valves Trial" (US) [PII B] for Inoperable Patients Completed NCT02184442
36 D-dimer Levels Determined the Intensity of Anticoagulation Therapy to Improve Outcomes in Patients With Mechanical Valve Replacement Completed NCT01996657 Warfarin
37 Follow Up on Freestyle Valves for Right Ventricular Outflow Tract Reconstruction in Children Completed NCT00385112
38 Comparison of Blood and Crystalloid Cardioplegia on Patients Operated With Significant Aortic Stenosis. A Prospective Randomized Study. Completed NCT01941420
39 Combining Multiple Complex Modelling Components to Create a Decision Support System for Heart Valve Disease Completed NCT04068740
40 Comparison of Blood Cardioplegia and Custodiol on Patients Operated for Significant Mitral Valve Innsufisiens. An Prospective, Randomized Two-center Study. Completed NCT01941459
41 Technical Development of Strain Rate Echocardiography Completed NCT00075920
42 Identifying the Ideal Parameter of the Cardiopulmonary Exercise Test to Distinguish Between the Cardiovascular and Respiratory Components of Functional Limitation and to Detect Relevant Physiological Changes in Function Completed NCT01162083
43 Individualised Follow-up After Valve Surgery Completed NCT03053778
44 Mosaic Ultra Porcine Bioprosthesis - Hemodynamic Study Completed NCT00477555
45 Transcatheter Mitral Valve Replacement With the Medtronic Intrepid™ TMVR System in Patients With Severe Symptomatic Mitral Regurgitation - APOLLO Trial Recruiting NCT03242642
46 On-X Heart Valve - 17mm Aortic and 23mm Mitral Recruiting NCT01812174
47 Mechanism of Left Ventricular Decompensation Evaluation - Aortic Stenosis Recruiting NCT03332745
48 Nordic Aortic Valve Intervention Trial 2 - A Randomized Multicenter Comparison of Transcatheter Versus Surgical Aortic Valve Replacement in Younger Low Surgical Risk Patients With Severe Aortic Stenosis Recruiting NCT02825134
49 Comparison of Transaxillary and Transfemoral Fully-percutaneous Approaches for Transcatheter Aortic Valve Implantation: The TRANSAX Study Recruiting NCT04274751
50 Evaluation of the Portico™ NG (Next Generation) Transcatheter Aortic Valve in High and Extreme Risk Patients With Symptomatic Severe Aortic Stenosis Recruiting NCT04011722

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, Kidney, Breast, Testes

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 56
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 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PLD1 NM_002662.5(PLD1):c.1325A>C (p.His442Pro)SNV Pathogenic 426089 rs769669104 3:171410135-171410135 3:171692345-171692345
2 PLD1 NM_002662.5(PLD1):c.1482_1483CA[1] (p.Thr495fs)short repeat Pathogenic 426090 rs778311238 3:171406520-171406521 3:171688730-171688731
3 PLD1 NM_002662.5(PLD1):c.2882+2T>CSNV Pathogenic 426091 rs1085307450 3:171330067-171330067 3:171612277-171612277

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

73
# 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
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
43 MeSH
44 MESH via Orphanet
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48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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