ECD
MCID: ATR001
MIFTS: 52

Atrioventricular Septal Defect (ECD) malady

Categories: Rare diseases, Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Atrioventricular Septal Defect

Aliases & Descriptions for Atrioventricular Septal Defect:

Name: Atrioventricular Septal Defect 12 50 24 29 52 14
Atrioventricular Canal Defect 12 29
Endocardial Cushion Defects 42
Endocardial Cushion Defect 12
Avcd 12
Avsd 12
Ecd 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050651
ICD10 33 Q21.2
ICD9CM 35 745.6 745.60
MeSH 42 D004694
UMLS 69 C0014116

Summaries for Atrioventricular Septal Defect

Disease Ontology : 12 A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs.

MalaCards based summary : Atrioventricular Septal Defect, also known as atrioventricular canal defect, is related to atrioventricular septal defect 5 and atrioventricular septal defect 4. An important gene associated with Atrioventricular Septal Defect is GATA4 (GATA Binding Protein 4), and among its related pathways/superpathways are BMAL1-CLOCK,NPAS2 activates circadian gene expression and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Dextrans and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and testes, and related phenotypes are growth/size/body region and cellular

Wikipedia : 71 Atrioventricular septal defect (AVSD) or atrioventricular canal defect (AVCD), previously known as... more...

Related Diseases for Atrioventricular Septal Defect

Diseases in the Atrioventricular Septal Defect family:

Atrioventricular Septal Defect 2 Atrioventricular Septal Defect 3
Atrioventricular Septal Defect 4 Atrioventricular Septal Defect 5

Diseases related to Atrioventricular Septal Defect via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 108)
id Related Disease Score Top Affiliating Genes
1 atrioventricular septal defect 5 12.4
2 atrioventricular septal defect 4 12.4
3 atrioventricular septal defect 2 12.4
4 atrioventricular septal defect 3 12.4
5 double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy 12.1
6 atrioventricular septal defect with blepharophimosis and anal and radial defects 12.0
7 complete atrioventricular canal 11.5
8 partial atrioventricular canal 11.4
9 ritscher-schinzel syndrome 11.3
10 right atrial isomerism 11.2
11 erdheim-chester disease 11.2
12 ritscher-schinzel syndrome 1 11.0
13 3p- syndrome 11.0
14 ellis-van creveld syndrome 11.0
15 atrial septal defect 2 11.0
16 hemifacial atrophy, progressive 10.9
17 tetralogy of fallot 10.5
18 down syndrome 10.4
19 right inferior vena cava connecting to left-sided atrium 10.2 CRELD1 GATA4
20 left superior vena cava persisting to left-sided atrium 10.2 CRELD1 GATA4
21 cor triatriatum 10.2
22 hypertrichotic osteochondrodysplasia cantu type 10.2 CRELD1 GJA1
23 left ventricular outflow tract obstruction 10.2
24 persistent eustachian valve 10.2 CRELD1 GATA4 GATA6
25 congenital benign spinal muscular atrophy dominant 10.2 CRELD1 GATA4 GATA6
26 pauciarticular chronic arthritis 10.1 CRELD1 GATA4 GATA6
27 pulmonary hypertension 10.1
28 ventricular septal defect 10.1
29 atrial septal defect ostium primum 10.1
30 complete atrioventricular canal-fallot tetralogy syndrome 10.1
31 complete atrioventricular canal-ventricle hypoplasia syndrome 10.1
32 complete atrioventricular canal-left heart obstruction syndrome 10.1
33 hypouricemia, renal, 2 10.1 EVC EVC2
34 skull base neoplasm 10.1 EDN1 GATA4 GATA6
35 heterotaxy 10.1
36 spondyloepimetaphyseal dysplasia, missouri type 10.0 EVC EVC2
37 dementia, familial british 10.0 EVC EVC2 GJA1
38 transposition of the great arteries 10.0
39 aortopulmonary window 10.0
40 cor triatriatum sinister 10.0
41 cleft mitral valve 10.0
42 acute closed-angle glaucoma 10.0 EDN1 GATA6 TBX5
43 sudden infant death syndrome 10.0 GJA1 NKX2-5
44 cerebritis 10.0
45 congenital diarrhea 7 with exudative enteropathy 9.9 GDF1 NKX2-6
46 huriez syndrome 9.9 CRELD1 NKX2-6
47 testicular germ cell tumor non-seminomatous 9.9 CRELD1 GJA1 NKX2-6
48 ascending cholangitis 9.9 GDF1 NKX2-6
49 third-degree atrioventricular block 9.9 GATA4 NKX2-5 TBX5
50 discrete subaortic stenosis 9.9

Graphical network of the top 20 diseases related to Atrioventricular Septal Defect:



Diseases related to Atrioventricular Septal Defect

Symptoms & Phenotypes for Atrioventricular Septal Defect

MGI Mouse Phenotypes related to Atrioventricular Septal Defect:

44 (show all 11)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.14 EDN1 EVC EVC2 FMO5 GATA4 GATA6
2 cellular MP:0005384 10.13 GDF1 GJA1 NKX2-5 NKX2-6 EVC EVC2
3 cardiovascular system MP:0005385 10.1 EDN1 GATA4 GATA6 GDF1 GJA1 NKX2-5
4 embryo MP:0005380 10.03 EDN1 GATA4 GATA6 GDF1 GJA1 NKX2-5
5 mortality/aging MP:0010768 10.02 GDF1 GJA1 NKX2-5 NKX2-6 TBX5 EDN1
6 craniofacial MP:0005382 9.93 EDN1 EVC EVC2 GDF1 GJA1 NKX2-5
7 limbs/digits/tail MP:0005371 9.85 EVC EVC2 GATA4 GATA6 GJA1 TBX5
8 normal MP:0002873 9.81 GJA1 NKX2-5 NKX2-6 TBX5 EDN1 EVC2
9 muscle MP:0005369 9.73 EDN1 GATA4 GATA6 GJA1 NKX2-5 TBX5
10 respiratory system MP:0005388 9.43 GATA4 GATA6 GDF1 GJA1 NKX2-5 NKX2-6
11 skeleton MP:0005390 9.17 EDN1 EVC EVC2 GATA4 GDF1 GJA1

Drugs & Therapeutics for Atrioventricular Septal Defect

Drugs for Atrioventricular Septal Defect (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 28)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Dextrans Phase 2
2 Pharmaceutical Solutions Phase 2
3 Plasma Substitutes Phase 2
4 Anticoagulants Phase 2
5 Blood Substitutes Phase 2
6
Nitric Oxide Approved Phase 1 10102-43-9 145068
7 carnitine Nutraceutical Phase 1
8
Acetaminophen Approved 103-90-2 1983
9
Dexmedetomidine Approved, Vet_approved 76631-46-4, 113775-47-6 68602 5311068 56032
10
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
11
Mechlorethamine Approved 51-75-2 4033
12 Analgesics
13 Adjuvants, Anesthesia
14 Adrenergic Agents
15 Narcotics
16 Adrenergic Agonists
17 Adrenergic alpha-2 Receptor Agonists
18 Adrenergic alpha-Agonists
19 Neurotransmitter Agents
20 Analgesics, Non-Narcotic
21 Analgesics, Opioid
22 Anesthetics
23 Anesthetics, General
24 Anesthetics, Intravenous
25 Peripheral Nervous System Agents
26 Hypnotics and Sedatives
27 Antipyretics
28 Central Nervous System Depressants

Interventional clinical trials:

(show all 15)
id Name Status NCT ID Phase
1 Study of Triostat in Infants During Heart Surgery Completed NCT00027417 Phase 3
2 Intravenous L-Citrulline to Treat Children Undergoing Heart Bypass Surgery : Revised Protocol Completed NCT01120964 Phase 1, Phase 2
3 Hypertonic Saline Dextran in Pediatric Cardiac Surgery Completed NCT00199771 Phase 2
4 Mesoblast Stem Cell Therapy for Patients With Single Ventricle and Borderline Left Ventricle Not yet recruiting NCT03079401 Phase 1, Phase 2
5 Aberrations in Carnitine Homeostasis in Congenital Heart Disease With Increased Pulmonary Blood Flow Unknown status NCT01825369 Phase 1
6 Molecular Genetic Epidemiology of Endocardial Cushion Defects - SCOR in Pediatric Cardiovascular Disease Completed NCT00005322
7 Measures to Lower the Stress Response in Pediatric Cardiac Surgery Completed NCT00848393
8 Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease Completed NCT00005546
9 Acetaminophen for Oxidative Stress After Cardiopulmonary Bypass Completed NCT01228305
10 National Congenital Heart Disease Audit Recruiting NCT02303535
11 The Effect of the Hole in the Cardiac Septum Developed by the MitraClip Procedure on the Blood Flow Mechanics Recruiting NCT02453451
12 Evolution of Two Cohorts of Children (Univentricular and Bi-ventricular Heart) After Strapping of the Pulmonary Artery Not yet recruiting NCT03047343
13 Optimal Timing for Repair of Left to Right Shunt Lesions Terminated NCT00229827
14 Infant Weight Gain With Trisomy 21 and CAVC Terminated NCT00327951
15 ADVANCE ASO AMPLATZER™ Atrial Septal Occluder Post Market Surveillance Study Terminated NCT02353351

Search NIH Clinical Center for Atrioventricular Septal Defect

Cochrane evidence based reviews: endocardial cushion defects

Genetic Tests for Atrioventricular Septal Defect

Genetic tests related to Atrioventricular Septal Defect:

id Genetic test Affiliating Genes
1 Atrioventricular Septal Defect 29 24 GATA4
2 Atrioventricular Canal Defect 29

Anatomical Context for Atrioventricular Septal Defect

MalaCards organs/tissues related to Atrioventricular Septal Defect:

39
Heart, Lung, Testes, Atrioventricular Node

Publications for Atrioventricular Septal Defect

Articles related to Atrioventricular Septal Defect:

(show top 50) (show all 410)
id Title Authors Year
1
Early pulmonary arterial hypertension immediately after closure of a ventricular or complete atrioventricular septal defect beyond 6months of age. ( 27866021 )
2017
2
Complete atrioventricular septal defect in the era of prenatal diagnosis. ( 27981284 )
2016
3
Atrioventricular septal defect in an adult patient: There are 'clefts' and clefts. ( 26947378 )
2016
4
Transesophageal echocardiography in an atrioventricular septal defect. ( 27716686 )
2016
5
Complete Atrioventricular Septal Defect with Truncus Arteriosus and Interrupted Aortic Arch in the Fetus. ( 26910376 )
2016
6
Right-Dominant Unbalanced Atrioventricular Septal Defect: Echocardiography in Surgical Decision Making. ( 27939051 )
2016
7
Anesthetic management of a child with complete atrioventricular septal defect and single ventricle posted for noncardiac surgery. ( 27746571 )
2016
8
Expanding the Limits of Posterior Aortic Translocation: Biventricular Correction of Complex Transposition With Complete Atrioventricular Septal Defect and Heterotaxy. ( 26777936 )
2016
9
Shunt Lesions Part I: Patent Ductus Arteriosus, Atrial Septal Defect, Ventricular Septal Defect, and Atrioventricular Septal Defect. ( 27490614 )
2016
10
Surgical repair of a complete atrioventricular septal defect with tetralogy of Fallot using a classical one-patch technique and pulmonary valve preservation. ( 27681859 )
2016
11
Repair of Partial Atrioventricular Septal Defect: Age and Outcomes. ( 27112649 )
2016
12
Cor Triatriatum with Partial Atrioventricular Septal Defect. ( 27293530 )
2016
13
Long-Term Outcome of Patients With Complete Atrioventricular Septal Defect Combined With the Tetralogy of Fallot: Staged Repair Is Not Inferior to PrimaryA Repair. ( 27692233 )
2016
14
Long-term outcomes of reoperations following repair of partial atrioventricular septal defect. ( 26920940 )
2016
15
EP07.07: Atrioventricular septal defect: what can we predict for neonates based on prenatal diagnosisA -A retrospective analysis of 97 cases from a tertiary centre for fetal cardiology. ( 27647352 )
2016
16
Growth Trajectory in Children with Trisomy 21 with and without Atrioventricular Septal Defect. ( 27237622 )
2016
17
Bioinformatic Analysis of Genes and MicroRNAs Associated With Atrioventricular Septal Defect in Down Syndrome Patients. ( 27396555 )
2016
18
The comparative relationships between locations of the papillary muscles and electrophysiologic QRS axis in patients with atrioventricular septal defect and common as opposed to separate orifices in the valve guarding the common atrioventricular junction. ( 27087659 )
2016
19
Echocardiographic Predictors of Left Ventricular Outflow Tract Obstruction following Repair of Atrioventricular Septal Defect. ( 27834986 )
2016
20
A single-centre 37-year experience with reoperation after primary repair of atrioventricular septal defect. ( 25855593 )
2015
21
Atrioventricular septal defect: From embryonic development to long-term follow-up. ( 26476030 )
2015
22
Double orifice tricuspid valve in an infant with partial atrioventricular septal defect. ( 25684896 )
2015
23
Factors associated with moderate or severe left atrioventricular valve regurgitation within 30 days of repair of complete atrioventricular septal defect. ( 26313720 )
2015
24
Characterization and quantification of dynamic eccentric regurgitation of the left atrioventricular valve after atrioventricular septal defect correction with 4D Flow cardiovascular magnetic resonance and retrospective valve tracking. ( 25827288 )
2015
25
Complete atrioventricular septal defect and pulmonary stenosis diagnosed in a 49-year-old woman after 10 uneventful births. ( 25873832 )
2015
26
Preoperative NT-proBNP values in patients with atrioventricular septal defect and its role as a predictor of early postoperative course. ( 26621160 )
2015
27
Unique combination of atrioventricular septal defect with cor triatriatum and complete vascular ring. ( 25870361 )
2015
28
Long-term outcomes after surgical repair of complete atrioventricular septal defect. ( 26048271 )
2015
29
Subaortic Area at Risk for Development of Obstruction After Surgical Repair of Atrioventricular Septal Defect: Myth or Reality? ( 26180156 )
2015
30
Anatomical Repair of an Unusual Combination of Tetralogy of Fallot and Atrioventricular Septal Defect With Unroofed Coronary Sinus. ( 26377366 )
2015
31
Disturbed Intracardiac Flow Organization After Atrioventricular Septal Defect Correction as Assessed With 4D Flow Magnetic Resonance Imaging and Quantitative Particle Tracing. ( 26222698 )
2015
32
Modified Single Versus Double-Patch Technique for the Repair of Complete Atrioventricular Septal Defect. ( 25940208 )
2015
33
Persistent 5th aortic arch with coexisting discontinuous pulmonary arteries, double-outlet right ventricle, and complete atrioventricular septal defect. ( 25873812 )
2015
34
Partial atrioventricular septal defect presenting in a septuagenarian. ( 25994750 )
2015
35
Down Syndrome with Complete Atrioventricular Septal Defect, Hypertrophic Cardiomyopathy, and Pulmonary Vein Stenosis. ( 26504441 )
2015
36
Factors associated with moderate or severe left atrioventricular valve regurgitation within 30 days of repair of incomplete atrioventricular septal defect. ( 26107451 )
2015
37
A Novel Surgical Technique for Repair of Congenitally Corrected Transposition of the Great Arteries With Atrioventricular Septal Defect: Avoiding Damage to the Conduction System. ( 26354652 )
2015
38
Totally robotic repair of atrioventricular septal defect in the adult. ( 26545987 )
2015
39
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect. ( 25996639 )
2015
40
Post-operative left atrioventricular valve function after the staged repair of complete atrioventricular septal defect with tetralogy of Fallot. ( 24803092 )
2014
41
Results of one-and-a-half-patch technique for repair of complete atrioventricular septal defect with a large ventricular component. ( 24866388 )
2014
42
Increased common atrioventricular valve tenting is a risk factor for progression to severe regurgitation in patients with a single ventricle with unbalanced atrioventricular septal defect. ( 25224553 )
2014
43
A single misstep in cardiac development explains the co-occurrence of tetralogy of fallot and complete atrioventricular septal defect in Down syndrome. ( 24721467 )
2014
44
Extracardiac conduit fontan operation and right ventricular exclusion procedure for right ventricle failure after repair of partial atrioventricular septal defect. ( 25207226 )
2014
45
Repair of Complete Atrioventricular Septal Defect in Infants with Down Syndrome: Outcomes and Long-Term Results. ( 25099029 )
2014
46
Left main coronary artery compression syndrome with an incomplete atrioventricular septal defect presenting as angina induced by hyperthyroidism. ( 25224192 )
2014
47
Bosentan treatment for pulmonary arterial hypertension due to complete atrioventricular septal defect in an infant with Down's syndrome. ( 25465836 )
2014
48
Should repair of partial atrioventricular septal defect be delayed until later in childhood? ( 25017658 )
2014
49
Experience with the surgical treatment of atrioventricular septal defect with left ventricular outflow tract obstruction. ( 24585256 )
2014
50
Repair of partial atrioventricular septal defect: a 37-year experience. ( 25086770 )
2014

Variations for Atrioventricular Septal Defect

ClinVar genetic disease variations for Atrioventricular Septal Defect:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SMARCAL1 NM_014140.3(SMARCAL1): c.2542G> T (p.Glu848Ter) single nucleotide variant Pathogenic rs119473033 GRCh37 Chromosome 2, 217342939: 217342939
2 SMARCAL1 NM_001127207.1(SMARCAL1): c.723C> A (p.Cys241Ter) single nucleotide variant Pathogenic rs748106387 GRCh38 Chromosome 2, 216415427: 216415427

Expression for Atrioventricular Septal Defect

Search GEO for disease gene expression data for Atrioventricular Septal Defect.

Pathways for Atrioventricular Septal Defect

GO Terms for Atrioventricular Septal Defect

Cellular components related to Atrioventricular Septal Defect according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor complex GO:0090575 8.62 GATA4 NKX2-5

Biological processes related to Atrioventricular Septal Defect according to GeneCards Suite gene sharing:

(show all 22)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.99 EDN1 GATA4 GATA6 NKX2-5 TBX5
2 positive regulation of transcription, DNA-templated GO:0045893 9.91 GATA4 GATA6 NKX2-5 TBX5
3 cell-cell signaling GO:0007267 9.81 EDN1 GATA4 GJA1 TBX5
4 heart development GO:0007507 9.72 EDN1 GJA1 NKX2-5 NKX2-6 TBX5
5 positive regulation of BMP signaling pathway GO:0030513 9.6 GATA4 GATA6
6 ventricular septum development GO:0003281 9.58 GATA4 TBX5
7 outflow tract septum morphogenesis GO:0003148 9.58 GATA6 NKX2-5
8 cardiac muscle tissue development GO:0048738 9.57 GATA6 NKX2-5
9 positive regulation of cardiac muscle cell proliferation GO:0060045 9.56 GATA6 TBX5
10 embryonic heart tube development GO:0035050 9.55 NKX2-5 NKX2-6
11 pharyngeal system development GO:0060037 9.54 NKX2-5 NKX2-6
12 ventricular cardiac muscle cell development GO:0055015 9.52 NKX2-5 NKX2-6
13 cardiac ventricle morphogenesis GO:0003208 9.49 GATA4 NKX2-5
14 negative regulation of cardiac muscle cell proliferation GO:0060044 9.48 GJA1 TBX5
15 pericardium development GO:0060039 9.46 NKX2-6 TBX5
16 intestinal epithelial cell differentiation GO:0060575 9.43 GATA4 GATA6
17 atrial septum morphogenesis GO:0060413 9.43 GATA4 NKX2-5 TBX5
18 atrial cardiac muscle cell development GO:0055014 9.4 NKX2-5 NKX2-6
19 bundle of His development GO:0003166 9.37 NKX2-5 TBX5
20 endocardial cushion development GO:0003197 9.33 CRELD1 GATA4 TBX5
21 cardiac muscle cell differentiation GO:0055007 9.26 GATA4 GATA6 NKX2-5 TBX5
22 positive regulation of cardioblast differentiation GO:0051891 8.92 GATA4 GATA6 NKX2-5 TBX5

Molecular functions related to Atrioventricular Septal Defect according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.65 GATA4 GATA6 NKX2-5 NKX2-6 TBX5
2 transcription regulatory region DNA binding GO:0044212 9.54 GATA4 GATA6 NKX2-5
3 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.5 GATA4 GATA6 TBX5
4 transcription factor binding GO:0008134 9.46 GATA4 GATA6 NKX2-5 TBX5
5 sequence-specific DNA binding GO:0043565 9.35 GATA4 GATA6 NKX2-5 NKX2-6 TBX5
6 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0001228 8.92 GATA4 GATA6 NKX2-5 TBX5

Sources for Atrioventricular Septal Defect

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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