MCID: ATR001
MIFTS: 56

Atrioventricular Septal Defect

Categories: Rare diseases, Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Atrioventricular Septal Defect

MalaCards integrated aliases for Atrioventricular Septal Defect:

Name: Atrioventricular Septal Defect 53 12 72 49 36 28 51 14
Atrioventricular Canal Defect 53 12 28
Atrioventricular Septal Defect, Susceptibility to, 1 53 13
Endocardial Cushion Defect 53 12
Avsd 53 12
Avcd 53 12
Ecd 53 12
Atrioventricular Canal Defect; Avcd 53
Atrioventricular Septal Defect 1 53
Endocardial Cushion Defect; Ecd 53
Endocardial Cushion Defects 41
Avc Defect 53

Classifications:



External Ids:

OMIM 53 606215
Disease Ontology 12 DOID:0050651
ICD10 32 Q21.2
ICD9CM 34 745.6 745.60
MeSH 41 D004694
MedGen 39 C1389016
KEGG 36 H00547
UMLS 69 C0014116

Summaries for Atrioventricular Septal Defect

OMIM : 53 The term 'atrioventricular septal defect' (AVSD) covers a spectrum of congenital heart malformations characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. In ostium primum atrial septal defect (ASD) there are separate atrioventricular valvar orifices despite a common junction, whereas in complete AVSD the valve itself is also shared (summary by Craig, 2006). AVSD, also designated endocardial cushion defect or atrioventricular canal defect (AVCD), is known to occur in either a nonsyndromic (isolated) form or, more commonly, as part of a malformation syndrome. The 2 syndromes most frequently associated with AVSD are Down syndrome (190685), in which AVSD is the most frequent congenital heart defect, and Ivemark syndrome (208530) (summary by Carmi et al., 1992). (606215)

MalaCards based summary : Atrioventricular Septal Defect, also known as atrioventricular canal defect, is related to partial atrioventricular canal and ventricular septal defect 1. An important gene associated with Atrioventricular Septal Defect is SMARCAL1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A Like 1), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Dextrans and Anticoagulants have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and atrioventricular node, and related phenotypes are cellular and cardiovascular system

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.

Wikipedia : 72 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 3 Atrioventricular Septal Defect 2
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 98)
# Related Disease Score Top Affiliating Genes
1 partial atrioventricular canal 32.7 CRELD1 GATA4 GATA6
2 ventricular septal defect 1 32.3 AVSD1 GATA4
3 complete atrioventricular canal-tetralogy of fallot syndrome 31.0 CRELD1 GATA4
4 complete atrioventricular canal-left heart obstruction syndrome 31.0 CRELD1 GATA4
5 complete atrioventricular canal-ventricle hypoplasia syndrome 30.8 CRELD1 GATA4 GATA6
6 patent ductus arteriosus 1 29.9 CRELD1 GATA6 GDF1 NKX2-6
7 conotruncal heart malformations 29.7 CRELD1 GATA4 GATA6 GDF1 NKX2-5 NKX2-6
8 tricuspid atresia 29.5 CRELD1 GDF1 NKX2-5 NKX2-6
9 atrial heart septal defect 29.5 CRELD1 GATA4 GDF1 NKX2-5 NKX2-6 TBX5
10 ventricular septal defect 29.4 GATA4 GATA6 GDF1 NKX2-5 NKX2-6 TBX5
11 transposition of the great arteries 29.4 CRELD1 GATA4 GATA6 GDF1 NKX2-5 NKX2-6
12 ebstein anomaly 29.3 CRELD1 GATA4 GDF1 NKX2-5 NKX2-6
13 tetralogy of fallot 29.2 CRELD1 EDN1 GATA4 GATA6 GDF1 GJA1
14 heart disease 28.5 CRELD1 EDN1 GATA4 GDF1 GJA1 NKX2-5
15 atrioventricular septal defect 4 12.5
16 atrioventricular septal defect 5 12.5
17 atrioventricular septal defect 2 12.5
18 atrioventricular septal defect 3 12.5
19 double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy 12.2
20 atrioventricular septal defect with blepharophimosis and anal and radial defects 12.2
21 complete atrioventricular canal 11.6
22 ritscher-schinzel syndrome 1 11.4
23 right atrial isomerism 11.3
24 erdheim-chester disease 11.3
25 split-hand/foot malformation 1 11.1
26 ellis-van creveld syndrome 11.1
27 atrial septal defect 2 11.1
28 chromosome 3pter-p25 deletion syndrome 11.1
29 chromosome 8p23.1 deletion 11.1
30 hemifacial atrophy, progressive 10.9
31 down syndrome 10.5
32 cor triatriatum 10.3
33 weyers acrofacial dysostosis 10.3 EVC EVC2
34 pulmonary hypertension 10.3
35 anomalous left coronary artery from the pulmonary artery 10.3 CRELD1 GJA1
36 polydactyly, postaxial, type a1 10.2 EVC EVC2
37 atrial septal defect ostium primum 10.2
38 aging 10.2
39 clouston syndrome 10.2 EVC EVC2 GJA1
40 heterotaxy 10.1
41 tricuspid valve stenosis 10.1 CRELD1 GJA1 NKX2-6
42 dextro-looped transposition of the great arteries 10.1 GDF1 NKX2-6
43 pulmonary hypertension, primary, 1 10.1
44 heterotaxy, visceral, 1, x-linked 10.1
45 aortopulmonary window 10.1
46 cor triatriatum sinister 10.1
47 cleft mitral valve 10.1
48 cerebritis 10.1
49 total anomalous pulmonary venous return 1 10.0 CRELD1 NKX2-6
50 atrioventricular block 10.0 GATA4 NKX2-5 TBX5

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



Diseases related to Atrioventricular Septal Defect

Symptoms & Phenotypes for Atrioventricular Septal Defect

Clinical features from OMIM:

606215

MGI Mouse Phenotypes related to Atrioventricular Septal Defect:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.17 CRELD1 EVC EVC2 FMO5 GATA4 GATA6
2 cardiovascular system MP:0005385 10.11 CRELD1 EDN1 GATA4 GATA6 GDF1 GJA1
3 growth/size/body region MP:0005378 10.1 GDF1 GJA1 NKX2-5 NKX2-6 SMARCAL1 TBX5
4 embryo MP:0005380 10.02 CRELD1 EDN1 GATA4 GATA6 GDF1 GJA1
5 craniofacial MP:0005382 9.95 EVC2 GDF1 GJA1 NKX2-5 CRELD1 EDN1
6 mortality/aging MP:0010768 9.93 CRELD1 EDN1 EVC EVC2 GATA4 GATA6
7 limbs/digits/tail MP:0005371 9.73 EVC EVC2 GATA4 GATA6 GJA1 TBX5
8 normal MP:0002873 9.61 EDN1 EVC2 GATA4 GATA6 GDF1 GJA1
9 skeleton MP:0005390 9.23 GDF1 GJA1 SMARCAL1 TBX5 EDN1 EVC

Drugs & Therapeutics for Atrioventricular Septal Defect

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

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Dextrans Phase 2
2 Anticoagulants Phase 2
3 Pharmaceutical Solutions Phase 2
4 Plasma Substitutes 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 5311068 56032 68602
10
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
11
Mechlorethamine Approved, Investigational 51-75-2 4033
12 Analgesics
13 Central Nervous System Depressants
14 Adjuvants, Anesthesia
15 Adrenergic Agents
16 Adrenergic Agonists
17 Adrenergic alpha-2 Receptor Agonists
18 Adrenergic alpha-Agonists
19 Narcotics
20 Neurotransmitter Agents
21 Analgesics, Non-Narcotic
22 Analgesics, Opioid
23 Anesthetics
24 Anesthetics, General
25 Anesthetics, Intravenous
26 Peripheral Nervous System Agents
27 Hypnotics and Sedatives
28 Antipyretics

Interventional clinical trials:

(show all 13)

# Name Status NCT ID Phase Drugs
1 Study of Triostat in Infants During Heart Surgery Completed NCT00027417 Phase 3 Liothyronine sodium/triiodothyronine
2 Intravenous L-Citrulline to Treat Children Undergoing Heart Bypass Surgery : Revised Protocol Completed NCT01120964 Phase 1, Phase 2 Intravenous L-Citrulline;Placebo of Intravenous L-Citrulline
3 Hypertonic Saline Dextran in Pediatric Cardiac Surgery Completed NCT00199771 Phase 2 7.5% NaCl in 6% dextran 70 solution
4 Mesoblast Stem Cell Therapy for Patients With Single Ventricle and Borderline Left Ventricle 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 IV L-carnitine
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 Fentanyl;Fentanyl;Dexmedetomidine and Fentanyl
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 Evolution of Two Cohorts of Children (Univentricular and Bi-ventricular Heart) After Strapping of the Pulmonary Artery Recruiting NCT03047343
11 National Congenital Heart Disease Audit Recruiting NCT02303535
12 Infant Weight Gain With Trisomy 21 and CAVC Terminated NCT00327951
13 Optimal Timing for Repair of Left to Right Shunt Lesions Terminated NCT00229827

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:

# Genetic test Affiliating Genes
1 Atrioventricular Septal Defect 28
2 Atrioventricular Canal Defect 28

Anatomical Context for Atrioventricular Septal Defect

MalaCards organs/tissues related to Atrioventricular Septal Defect:

38
Heart, Lung, Atrioventricular Node, Testes

Publications for Atrioventricular Septal Defect

Articles related to Atrioventricular Septal Defect:

(show top 50) (show all 440)
# Title Authors Year
1
CRELD1 gene variants and atrioventricular septal defects in Down syndrome. ( 29054759 )
2018
2
Late arrhytmias after repair of atrioventricular septal defect: Down's Syndrome is not the culprit. ( 29407082 )
2018
3
Annuloplasty band implantation in adults with partial atrioventricular septal defect: a propensity-matched study. ( 29069357 )
2018
4
Influence of staged repair and primary repair on outcomes in patients with complete atrioventricular septal defect and tetralogy of Fallot: a systematic review and meta-analysis. ( 29049707 )
2018
5
Coexistence of Right Ventricular Myxoma and Atrioventricular Septal Defect. ( 29310556 )
2018
6
One-stage definitive repair of complete atrioventricular septal defect and pulmonary atresia with major aortopulmonary collateral arteries. ( 29049668 )
2018
7
Echocardiographic assessment of left to right shunts: atrial septal defect, ventricular septal defect, atrioventricular septal defect, patent arterial duct. ( 29432197 )
2018
8
The CHSS Complete Atrioventricular Septal Defect Cohort: Baseline, Pre-Intervention Echocardiographic Characteristics. ( 29428621 )
2018
9
Does biventricular conversion bring survival benefits to patients with an unbalanced atrioventricular septal defect? ( 29365065 )
2018
10
Incidence and risk factors of post-operative arrhythmias and sudden cardiac death after atrioventricular septal defect (AVSD) correction: Up to 47years of follow-up. ( 29249442 )
2018
11
Right Dominant Atrioventricular Septal Defect: The Road to a Unified Model of Echocardiographic Interpretation. ( 29187108 )
2017
12
Feasibility of Biventricular Repair in Right Dominant Unbalanced Atrioventricular Septal Defect: A New Echocardiographic Metric to Refine Surgical Decision-Making. ( 28696869 )
2017
13
Perioperative and Anesthetic Considerations in Atrioventricular Septal Defect. ( 28592182 )
2017
14
Propensity score matched analysis of partial atrioventricular septal defect repair in infancy. ( 29196540 )
2017
15
Technical Performance Score Predicts Partial/Transitional Atrioventricular Septal Defect Outcomes. ( 29269131 )
2017
16
Successful atrioventricular valve repair improves long-term outcomes in children with unbalanced atrioventricular septal defect. ( 28743383 )
2017
17
Early pulmonary arterial hypertension immediately after closure of a ventricular or complete atrioventricular septal defect beyond 6months of age. ( 27866021 )
2017
18
Repair of complete atrioventricular septal defect with tetralogy of Fallot. ( 28164023 )
2017
19
Prophylactic Pulmonary Artery Reduction in a Young Female with Severe Pulmonary Hypertension from Complete Atrioventricular Septal Defect. ( 28154602 )
2017
20
Symptomatic partial and transitional atrioventricular septal defect repaired in infancy. ( 29288192 )
2017
21
Macroreentrant atrial tachycardia around the native common atrioventricular valve in a surgically corrected complete atrioventricular septal defect. ( 28339864 )
2017
22
Modified Single-Patch Technique Versus Two-Patch Technique for the Repair of Complete Atrioventricular Septal Defect: A Meta-Analysis. ( 28711966 )
2017
23
Surgeons, valve repair in severely unbalanced atrioventricular septal defect, and the emperor's new clothes. ( 28967414 )
2017
24
Surgical repair of partial atrioventricular septal defect. ( 28523023 )
2017
25
Mid-term outcomes in unbalanced complete atrioventricular septal defect: role of biventricular conversion from single-ventricle palliation. ( 28521020 )
2017
26
Decision-Making in Unbalanced Atrioventricular Septal Defect: Examining Another Piece of the Puzzle. ( 28696883 )
2017
27
Technical Performance Score: Predictor of Outcomes in Complete Atrioventricular Septal Defect Repair. ( 28648535 )
2017
28
Repair of Atrioventricular Septal Defect and Transposition in Left Isomerism. ( 28359497 )
2017
29
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
30
Growth Trajectory in Children with Trisomy 21 with and without Atrioventricular Septal Defect. ( 27237622 )
2016
31
Accessory Mitral Valve Leaflet Causing Severe Left Ventricular Outflow Tract Obstruction in a Preterm Neonate with a Partial Atrioventricular Septal Defect. ( 28100980 )
2016
32
Complete Atrioventricular Septal Defect with Truncus Arteriosus and Interrupted Aortic Arch in the Fetus. ( 26910376 )
2016
33
Cor Triatriatum with Partial Atrioventricular Septal Defect. ( 27293530 )
2016
34
Surgical repair of a complete atrioventricular septal defect with tetralogy of Fallot using a classical one-patch technique and pulmonary valve preservation. ( 27681859 )
2016
35
Transesophageal echocardiography in an atrioventricular septal defect. ( 27716686 )
2016
36
Atrioventricular septal defect in an adult patient: There are 'clefts' and clefts. ( 26947378 )
2016
37
Repair of Partial Atrioventricular Septal Defect: Age and Outcomes. ( 27112649 )
2016
38
Surgical repair of a complete atrioventricular septal defect with tetralogy of Fallot using a classical one-patch technique and pulmonary valve preservation. ( 28106970 )
2016
39
Anesthetic management of a child with complete atrioventricular septal defect and single ventricle posted for noncardiac surgery. ( 27746571 )
2016
40
Shunt Lesions Part I: Patent Ductus Arteriosus, Atrial Septal Defect, Ventricular Septal Defect, and Atrioventricular Septal Defect. ( 27490614 )
2016
41
Long-term outcomes of reoperations following repair of partial atrioventricular septal defect. ( 26920940 )
2016
42
Expanding the Limits of Posterior Aortic Translocation: Biventricular Correction of Complex Transposition With Complete Atrioventricular Septal Defect and Heterotaxy. ( 26777936 )
2016
43
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
44
Bioinformatic Analysis of Genes and MicroRNAs Associated With Atrioventricular Septal Defect in Down Syndrome Patients. ( 27396555 )
2016
45
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
46
Echocardiographic Predictors of Left Ventricular Outflow Tract Obstruction following Repair of Atrioventricular Septal Defect. ( 27834986 )
2016
47
Right-Dominant Unbalanced Atrioventricular Septal Defect: Echocardiography in Surgical Decision Making. ( 27939051 )
2016
48
Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms. ( 27340223 )
2016
49
Complete atrioventricular septal defect in the era of prenatal diagnosis. ( 27981284 )
2016
50
Preoperative NT-proBNP values in patients with atrioventricular septal defect and its role as a predictor of early postoperative course. ( 26621160 )
2015

Variations for Atrioventricular Septal Defect

ClinVar genetic disease variations for Atrioventricular Septal Defect:

6
# 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 GRCh37 Chromosome 2, 217280150: 217280150
3 TBX5 NM_000192.3(TBX5): c.404T> G (p.Leu135Arg) single nucleotide variant Likely pathogenic rs1057519050 GRCh37 Chromosome 12, 114836484: 114836484

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:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane protein complex GO:0098797 8.96 EVC EVC2
2 macromolecular complex GO:0032991 8.62 NKX2-5 TBX5

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.85 EDN1 GATA4 GJA1 TBX5
2 heart development GO:0007507 9.72 EDN1 GJA1 NKX2-5 NKX2-6 TBX5
3 heart looping GO:0001947 9.63 GATA4 GJA1 NKX2-5
4 ventricular septum development GO:0003281 9.6 GATA4 TBX5
5 blood vessel morphogenesis GO:0048514 9.59 EDN1 GJA1
6 outflow tract septum morphogenesis GO:0003148 9.58 GATA6 NKX2-5
7 cardiac muscle tissue development GO:0048738 9.58 GATA6 NKX2-5
8 negative regulation of cardiac muscle cell proliferation GO:0060044 9.57 GJA1 TBX5
9 pharyngeal system development GO:0060037 9.56 NKX2-5 NKX2-6
10 adult heart development GO:0007512 9.54 GJA1 NKX2-5
11 embryonic heart tube development GO:0035050 9.54 GJA1 NKX2-5 NKX2-6
12 ventricular cardiac muscle cell development GO:0055015 9.52 NKX2-5 NKX2-6
13 cardiac ventricle morphogenesis GO:0003208 9.51 GATA4 NKX2-5
14 pericardium development GO:0060039 9.49 NKX2-6 TBX5
15 intestinal epithelial cell differentiation GO:0060575 9.48 GATA4 GATA6
16 atrial cardiac muscle cell development GO:0055014 9.43 NKX2-5 NKX2-6
17 atrial septum morphogenesis GO:0060413 9.43 GATA4 NKX2-5 TBX5
18 bundle of His development GO:0003166 9.4 NKX2-5 TBX5
19 endocardial cushion development GO:0003197 9.33 CRELD1 GATA4 TBX5
20 cardiac muscle cell differentiation GO:0055007 9.26 GATA4 GATA6 NKX2-5 TBX5
21 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:

# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.46 GATA4 GATA6 NKX2-5 TBX5
2 sequence-specific DNA binding GO:0043565 9.35 GATA4 GATA6 NKX2-5 NKX2-6 TBX5
3 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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