MCID: ATR010
MIFTS: 60

Atrial Heart Septal Defect

Categories: Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Atrial Heart Septal Defect

MalaCards integrated aliases for Atrial Heart Septal Defect:

Name: Atrial Heart Septal Defect 12 15 17
Atrial Septal Defect 12 74 36 29 6 32
Atrial Septal Defects 54 15
Congenital Atrial Septal Defect 12
Interauricular Septal Defect 12
Heart Septal Defects, Atrial 43
Interatrial Septal Defect 12
Auricular Septal Defect 12
Septal Defect, Atrial 39
Atrioseptal Defect 12

Classifications:



External Ids:

Disease Ontology 12 DOID:1882
KEGG 36 H00546
MeSH 43 D006344
NCIt 49 C84473
SNOMED-CT 67 70142008
ICD10 32 Q21.1
UMLS 71 C0018817

Summaries for Atrial Heart Septal Defect

KEGG : 36 Atrial septal defect is an abnormal hole in the interatrial septum between right and left atria. Atrial septal defect is one of the most frequent types of malformations in congenital heart defect that arise from perturbations of cardiac development during embryogenesis. Multiple transcriptions factors that regulate cardiac development as well as various chemicals and maternal diseases have been implicated in the disease.

MalaCards based summary : Atrial Heart Septal Defect, also known as atrial septal defect, is related to patent foramen ovale and atrial septal defect 2. An important gene associated with Atrial Heart Septal Defect is NKX2-5 (NK2 Homeobox 5), and among its related pathways/superpathways are Cardiac conduction and nNOS Signaling in Skeletal Muscle. The drugs Clopidogrel and Aspirin have been mentioned in the context of this disorder. Affiliated tissues include in the septum, heart and lung, and related phenotypes are cardiovascular system and cellular

Disease Ontology : 12 A heart septal defect located in in the septum that separates the two atria of the heart.

Wikipedia : 74 Atrial septal defect (ASD) is a congenital heart defect in which blood flows between the atria (upper... more...

Related Diseases for Atrial Heart Septal Defect

Diseases in the Atrial Heart Septal Defect family:

Atrial Heart Septal Defect 7

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

(show top 50) (show all 557)
# Related Disease Score Top Affiliating Genes
1 patent foramen ovale 34.9 TBX5 TBX20 PAGR1 NPPB NKX2-5 MYH6
2 atrial septal defect 2 34.4 TBX20 NKX2-5 GATA4
3 atrial septal defect 9 34.4 PRODH GATA6 CFAP47
4 interatrial communication 34.3 RPL5 NKX2-5 DMD CREBBP
5 holt-oram syndrome 34.1 TBX5 TBX20 NKX2-5 MYH6 GATA6 GATA4
6 tricuspid atresia 33.8 TBX5 TBX20 PRODH NKX2-5 GATA6 GATA4
7 atrial septal defect 4 33.8 TBX20 NKX2-5
8 hypoplastic right heart syndrome 33.8 TBX5 TBX20 NKX2-5
9 ventricular septal defect 33.8 TBX5 PRODH NPPB NKX2-5 GATA6 GATA4
10 atrioventricular septal defect 33.6 TBX5 TBX20 NKX2-5 GATA6 GATA4
11 hypoplastic left heart syndrome 33.6 TBX5 TBX20 NPPB NKX2-5 MYH6 GATA6
12 mitral valve insufficiency 32.5 TBX5 NPPB MYH6 F2
13 atrioventricular block 32.4 TBX5 NPPB NKX2-5 GATA4
14 patent ductus arteriosus 1 32.3 TBX5 TBX20 PRODH NPPB NKX2-5 MYH6
15 atrial fibrillation 32.2 TBX5 NPPB GATA6 F2
16 mitral valve stenosis 32.2 NPPB MIR379 F2
17 pulmonary valve stenosis 32.1 TBX5 NKX2-5 GATA4
18 tetralogy of fallot 32.1 TBX5 TBX20 PRODH NPPB NKX2-5 MYH6
19 sinoatrial node disease 32.0 TBX5 NKX2-5 MYH6
20 dextro-looped transposition of the great arteries 32.0 TBX5 NPPB NKX2-5 GATA4
21 atrial standstill 1 31.9 NPPB MYH6 GATA4 DMD ACTC1
22 eisenmenger syndrome 31.8 NKX2-5 GATA4
23 heart disease 31.7 TBX5 TBX20 PRODH NPPB NKX2-5 MYH6
24 hypertrophic cardiomyopathy 31.7 NPPB NKX2-5 MYH6 GATA4 DMD ACTC1
25 total anomalous pulmonary venous return 1 31.7 TBX5 NKX2-5 GATA4
26 aortic valve disease 1 31.7 TBX5 TBX20 NKX2-5 MYH6 GATA6 GATA4
27 lipoprotein quantitative trait locus 31.7 NPPB NKX2-5 MYH6 GATA4 F2
28 heart valve disease 31.7 NPPB NKX2-5 MYH6 MIR379 F2
29 wolff-parkinson-white syndrome 31.6 TBX5 TBX20 NPPB NKX2-5 MYH6
30 pulmonary hypertension, primary, 1 31.6 RPL5 NPPB
31 ebstein anomaly 31.6 TBX5 TBX20 NPPB NKX2-5 MYH6 GATA4
32 aortic valve disease 2 31.5 TBX5 NPPB NKX2-5 MYH6 MIR379 GATA4
33 dilated cardiomyopathy 31.5 TBX5 TBX20 NPPB NKX2-5 MYH6 GATA6
34 heart septal defect 31.4 TBX5 TBX20 RNU4ATAC PRODH PAGR1 NKX2-5
35 respiratory failure 31.4 NPPB GATA4 F2 DMD
36 double outlet right ventricle 31.4 TBX5 TBX20 NKX2-5 MYH6 GATA6 GATA4
37 left ventricular noncompaction 31.2 TBX5 TBX20 NKX2-5 MYH6 GATA4 DMD
38 partial atrioventricular canal 31.1 GATA6 GATA4
39 pulmonary valve disease 31.0 TBX5 NPPB NKX2-5 GATA6 GATA4
40 myocarditis 30.8 NPPB MYH6 DMD
41 diaphragmatic hernia, congenital 30.8 TBX5 GATA6 GATA4
42 teratoma 30.7 GATA6 GATA4 ACTC1
43 atrial septal defect 7 with or without atrioventricular conduction defects 13.0
44 atrial septal defect sinus venosus 12.8
45 atrial septal defect coronary sinus 12.8
46 atrial heart septal defect 7 12.8
47 atrial septal defect ostium primum 12.6
48 brachydactyly, type e, with atrial septal defect, type ii 12.6
49 pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities 12.6
50 atrial septal defect, secundum, with various cardiac and noncardiac defects 12.6

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



Diseases related to Atrial Heart Septal Defect

Symptoms & Phenotypes for Atrial Heart Septal Defect

MGI Mouse Phenotypes related to Atrial Heart Septal Defect:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.2 ACTC1 CREBBP DMD F2 FOXC1 GATA4
2 cellular MP:0005384 10.17 ACTC1 CREBBP DMD F2 FOXC1 GATA4
3 growth/size/body region MP:0005378 10.15 ACTC1 CREBBP DMD F2 FOXC1 GATA4
4 mortality/aging MP:0010768 10.07 ACTC1 CREBBP DMD F2 FOXC1 GATA4
5 embryo MP:0005380 10.06 CREBBP F2 FOXC1 GATA4 GATA6 NKX2-5
6 limbs/digits/tail MP:0005371 9.87 CREBBP DMD FOXC1 GATA4 GATA6 PRODH
7 muscle MP:0005369 9.85 ACTC1 CREBBP DMD FOXC1 GATA4 GATA6
8 normal MP:0002873 9.65 ACTC1 CREBBP DMD F2 FOXC1 GATA4
9 respiratory system MP:0005388 9.23 CREBBP DMD F2 FOXC1 GATA4 GATA6

Drugs & Therapeutics for Atrial Heart Septal Defect

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

(show top 50) (show all 65)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clopidogrel Approved Phase 4 113665-84-2, 120202-66-6 60606
2
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
3
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
4
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
5
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
6
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
7
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
8
Racepinephrine Approved Phase 4 329-65-7 838
9
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
10 Neurotransmitter Agents Phase 4
11 Purinergic P2Y Receptor Antagonists Phase 4
12 Platelet Aggregation Inhibitors Phase 4
13 Adrenergic alpha-Agonists Phase 4
14 Hypnotics and Sedatives Phase 4
15 Adrenergic Agents Phase 4
16 Analgesics, Non-Narcotic Phase 4
17 Adrenergic Agonists Phase 4
18 Analgesics Phase 4
19 Excitatory Amino Acid Antagonists Phase 4
20 Anesthetics, General Phase 4
21 Anesthetics, Dissociative Phase 4
22 Anesthetics, Intravenous Phase 4
23 Carticaine Phase 4
24 Pharmaceutical Solutions Phase 4
25 Epinephryl borate Phase 4
26
Warfarin Approved Phase 2, Phase 3 81-81-2 6691 54678486
27
Ticagrelor Approved Phase 3 274693-27-5 9871419
28
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
29 Fibrinolytic Agents Phase 3
30 Cyclooxygenase Inhibitors Phase 3
31 Antipyretics Phase 3
32 Anti-Inflammatory Agents Phase 3
33 Antirheumatic Agents Phase 3
34 Anti-Inflammatory Agents, Non-Steroidal Phase 3
35 Antihypertensive Agents Phase 3
36 Endothelin Receptor Antagonists Phase 3
37
Hydrocortisone Approved, Vet_approved Phase 2 50-23-7 5754
38
Hydrocortisone acetate Approved, Vet_approved Phase 2 50-03-3
39
Tadalafil Approved, Investigational Phase 2 171596-29-5 110635
40 Hydrocortisone 17-butyrate 21-propionate Phase 2
41 Hydrocortisone hemisuccinate Phase 2
42 Phosphodiesterase 5 Inhibitors Phase 2
43 Phosphodiesterase Inhibitors Phase 2
44 Vasodilator Agents Phase 2
45
Enoxaparin Approved 9005-49-6 772
46
Tinzaparin Approved 9041-08-1, 9005-49-6 25244225
47
Dalteparin Approved 9005-49-6
48
Heparin Approved, Investigational 9005-49-6 46507594 772
49
tannic acid Approved 1401-55-4
50
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337

Interventional clinical trials:

(show top 50) (show all 88)
# Name Status NCT ID Phase Drugs
1 Randomized Clinical Trial Comparing the Efficacy of Percutaneous Closure of Patent Foramen Ovale (PFO) With Medical Treatment in Patients With Cryptogenic Embolism Unknown status NCT00166257 Phase 4 Medical antitrhombotic treatment
2 Clopidogrel On Top of Aspirin For the Prevention of New Onset Migraine Headache Occurrence Following Transcatheter Closure of Atrial Septal Defects: A Prospective Randomized Trial (the CANOA Study) Completed NCT00799045 Phase 4 Clopidogrel
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 Comparison of Periosteal and Subcutaneous Infusions of Articaine and Bupivacaine in Treatment of Acute Pain After Sternotomy Suspended NCT01536717 Phase 4 Articaine hydrochloride 2% solution;Sodium Chloride
5 A Prospective, Multicenter, Randomized Controlled Trial to Evaluate the Safety and Efficacy of the STARFlex® Septal Closure System Versus Best Medical Therapy in Patients With a Stroke and/or Transient Ischemic Attack Due to Presumed Paradoxical Embolism Through a Patent Foramen Ovale Unknown status NCT00201461 Phase 2, Phase 3 Best medical therapy
6 A Prospective, Multi-Center, Double-Blinded, Placebo-Controlled Trial to Evaluate the Effectiveness of Patent Foramen Ovale Closure With the BioSTAR Septal Repair Implant to Reduce Refractory Migraine Headache With Aura. Unknown status NCT00283738 Phase 2, Phase 3
7 A Prospective, Multicentre, Randomized, Open Label, Blinded Endpoint, Phase 3 Trial to Assess the Safety and Efficacy of Prophylactic TicagrelOr With Acetylsalicylic Acid Versus CLopidogrel With Acetylsalicylic Acid in the Development of Cerebrovascular EMbolic Events During Transcatheter Aortic Valve Implantation (TAVI) OperationS - the PTOLEMAIOS Study. Unknown status NCT02989558 Phase 3 Ticagrelor plus ASA;Clopidogrel plus ASA
8 The Pharmacology of Dexmedetomidine in Children With Congenital Heart Disease Completed NCT00480740 Phase 3 Dexmedetomidine
9 BOsentan for Mild Pulmonary Vascular Disease in Asd Patients (the BOMPA Trial): a Double-blind, Randomized Controlled, Pilot Trial Completed NCT01218607 Phase 3 Bosentan;Placebo
10 Medtronic Concomitant Utilization of Radio Frequency Energy for Atrial Fibrillation (CURE-AF)/Permanent Study Completed NCT00431834 Phase 3
11 Medtronic Concomitant Utilization of Radio Frequency Energy for Atrial Fibrillation (CURE-AF)/Persistent Study Completed NCT00506493 Phase 3
12 Effect of Catheter Ablation on the Prevalence, Clinical Manifestation and MRI Findings of Migraine in AF Patients With or Without a Previous History of Migraine Completed NCT01391091 Phase 3
13 A Phase III Double-Blind, Randomized, Placebo Controlled, Multi-Center Clinical Study to Evaluate the Efficacy and Safety of Intravenous L-citrulline for the Prevention of Clinical Sequelae of Acute Lung Injury Induced by Cardiopulmonary Bypass in Pediatric Subjects Undergoing Surgery for Congenital Heart Defects Completed NCT02891837 Phase 3 L-citrulline
14 Iatrogenic Atrial Septal Defect Study Recruiting NCT04395027 Phase 3
15 A With-in Subject, Controlled Study to Determine the Sensitivity and Specificity of the Cardiox Flow Detection System for the Detection of Right-to-Left Cardiac Shunts Compared to Transesophageal Echocardiography and Transcranial Doppler Ultrasound Terminated NCT01773252 Phase 3
16 Effect of Septal Closure of Atrial PFO on Events of Migraine With Premere: ESCAPE Migraine Trial Terminated NCT00267371 Phase 3 Medical management/current medications per standard of care by personal physician.
17 Phase IB Double Blind, Randomized, Placebo Controlled Clinical Trial to Determine the Pharmacokinetics and Safety of a Revised Protocol of Intravenous L-Citrulline (Citrupress®) Versus Placebo in Children Undergoing Cardiopulmonary Bypass Completed NCT01120964 Phase 1, Phase 2 Intravenous L-Citrulline;Placebo of Intravenous L-Citrulline
18 When Are Parents Helpful? A Randomized Clinical Trial of the Efficacy of Maternal Sound for Pediatric Patients Undergoing Cardiac Surgery Completed NCT02674126 Phase 2
19 Clinical Efficacy of Phosphodiesterase-5 Inhibitor Tadalafil in Eisenmenger Syndrome - A Randomised, Placebo Controlled, Double Blind, Crossover Study Completed NCT01200732 Phase 2 Tadalafil, placebo
20 Compassionate Use of Catheter Thrombectomy (Aspirex 11F) in Patients With Massive Pulmonary Embolism Terminated NCT00314002 Phase 1, Phase 2
21 Utilization of Confocal Microscopy During Cardiac Surgery Completed NCT03189134 Phase 1 Fluorescite
22 Radiation-Free Heart Catheterization Using MRI Recruiting NCT02739087 Phase 1
23 A Prospective, Multi-center Study to Evaluate the Safety and Performance of the Hyperion™ ASD and PDA Closure Systems. Unknown status NCT02220270
24 International Registry for Secundum Atrial Septal Defects Closure by Using the Occlutech®Flex II Device in More Than 2000 Patients Unknown status NCT02766569
25 Occluder Size Determination in Transcatheter Closure of Ostium Secundum Atrial Septal Defect Based on Three-Dimensional Echocardiography Assessment Unknown status NCT02601768
26 The Effect of the Iatrogenic Atrial Septal Defect After MitraClip Procedure on the Hemodynamic Outcome Unknown status NCT02453451
27 A Multicentre, Randomized Controlled Study of Blood Clotting After Transcatheter Atrial Septal Defect Closure Unknown status NCT01086046 Low molecular weight heparin
28 Cardiac Catheterization in the Management of Pediatric Cardiac Patients at Assiut University Children Hospital ( A Descriptive Study) Unknown status NCT03398187
29 Cardiac Murmurs in Children: Predictive Value of Cardiac Markers Unknown status NCT02746029
30 Multicenter Registry Study of Surgery and Transcatheter Intervention for Structural Heart Diseases Unknown status NCT02917980
31 Molecular Basis of Congenital Heart Defects Unknown status NCT00579358
32 Prospective, Monocentric Pilot Study for the Identification of Known or Novel Genes Associated With Development of Pulmonary Arterial Hypertension in Patients With Congenital Shunt Lesions Unknown status NCT02691689
33 GORE® HELEX® Septal Occluder Post-Approval Study Completed NCT00581308
34 Closure of Atrial Septal Defects With the AMPLATZER Septal Occluder - Post Approval Study Completed NCT00650936
35 Imaging of Atrial Septal Defects by Velocity Encoded Cardiovascular Magnetic Resonance Completed NCT00498446
36 Integration of Three-dimensional Echocardiography and Fluoroscopy Imaging During the Percutaneous Closure of intAtrial Septal Defects in Children: CIA-3D-navigator. Completed NCT02529111
37 Prospective Mono-center Clinical Study to Evaluate the Safety and Effectiveness of an Intracardiac Septal Closure Device in Patients With Atrial Septum Defect (ASD) Completed NCT00353509
38 GORE® Septal Occluder Clinical Study: A Study to Evaluate Safety and Efficacy in the Treatment of Transcatheter Closure of Ostium Secundum Atrial Septal Defects (ASDs) Completed NCT01711983
39 Prospective, Monocentric Study for the Evaluation of Latent Pulmonary Arterial Hypertension in Patients With Congenital Shunt Lesions Lost to Follow-up. Completed NCT02552485
40 Prospective Single Center Pilot Clinical Study to Evaluate the Safety and Effectiveness of an Intracardiac Septal Closure Device With Biodegradable Framework in Patients With Clinically Significant Atrial Septum Defect (ASD) or Patent Foramen Ovale (PFO) Completed NCT01960491
41 Prospective Multicenter Clinical Study to Evaluate the Safety and Effectiveness of an Intracardiac Septal Closure Device in Patients With Atrial Septum Defect (ASD) and Patent Foramen Ovale (PFO) Completed NCT00207376
42 Protein Distribution and Colloid Osmotic Pressure in Children With Volume and Pressure Loading Due to Congenital Heart Defects Completed NCT01757743
43 Atrial Septal Defect - Exercise Capacity and Pulmonary Hypertension Completed NCT03565471
44 Cardiac Magnet Resonance Imaging to Evaluate of Dynamic T2 Preparation Puls by Patient With Shunt or Patients With Chronic Obstructive Pulmonary Disease (COPD) Completed NCT02449083
45 Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease Completed NCT00005546
46 The Effect on Endothelial Progenitor Cells (EPCs) by Successful Cardiac Occlusion Device Implantation Completed NCT02957201
47 Evaluation of the DC Devices IASD System in the Treatment of Patients With Heart Failure With Preserved Ejection Fraction Completed NCT01570517
48 Molecular Genetic Epidemiology of Endocardial Cushion Defects - SCOR in Pediatric Cardiovascular Disease Completed NCT00005322
49 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
50 Follow up of Adults With Congenitally Malformed Hearts With Focus on Computer-Based Education and Psychosocial Support Completed NCT01234753

Search NIH Clinical Center for Atrial Heart Septal Defect

Cochrane evidence based reviews: heart septal defects, atrial

Genetic Tests for Atrial Heart Septal Defect

Genetic tests related to Atrial Heart Septal Defect:

# Genetic test Affiliating Genes
1 Atrial Septal Defect 29

Anatomical Context for Atrial Heart Septal Defect

The Foundational Model of Anatomy Ontology organs/tissues related to Atrial Heart Septal Defect:

19
In The Septum

MalaCards organs/tissues related to Atrial Heart Septal Defect:

40
Heart, Lung, Brain, Testes, Liver, Endothelial, Breast

Publications for Atrial Heart Septal Defect

Articles related to Atrial Heart Septal Defect:

(show top 50) (show all 8585)
# Title Authors PMID Year
1
Usefulness of early diastolic mitral annular velocity to predict plasma levels of brain natriuretic peptide and transient heart failure development after device closure of atrial septal defect. 54 61
19962485 2009
2
Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects. 54 61
19678963 2009
3
[Mutation of NKX2-5 gene in patients with atrial septal defect]. 54 61
20021795 2009
4
Familial atrial septal defect in the oval fossa with progressive prolongation of the atrioventricular conduction caused by mutations in the NKX2.5 gene. 61 54
19049681 2009
5
Isolation, characterization and genetic analysis of canine GATA4 gene in a family of Doberman Pinschers with an atrial septal defect. 54 61
18305343 2007
6
Novel point mutation in the NKX2-5 gene in a Moroccan family with atrioventricular conduction disturbance and an atrial septal defect in the oval fossa. 54 61
17184575 2007
7
Genetics of congenital heart diseases in syndromic and non-syndromic patients: new advances and clinical implications. 61 54
17255809 2007
8
A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype? 54 61
16896344 2006
9
Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. 54 61
15810002 2005
10
Mutation in myosin heavy chain 6 causes atrial septal defect. 54 61
15735645 2005
11
The natriuretic peptides and their role in disorders of right heart dysfunction and pulmonary hypertension. 61 54
15369714 2004
12
A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family. 61 54
15235040 2004
13
Developmental paradigms in heart disease: insights from tinman. 61 54
12173684 2002
14
Quantitative evaluation of the changes in plasma concentrations of cardiac natriuretic peptide before and after transcatheter closure of atrial septal defect. 61 54
12162595 2002
15
Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2-5. 61 54
11073884 2000
16
Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. 61 54
10587520 1999
17
Secretion patterns of brain natriuretic peptide and atrial natriuretic peptide in patients with or without pulmonary hypertension complicating atrial septal defect. 61 54
9704693 1998
18
Plasma brain natriuretic peptide levels increase in proportion to the extent of right ventricular dysfunction in pulmonary hypertension. 54 61
9426041 1998
19
Transseptal occluder migration after transcatheter atrial septal aneurysm and double secondary septal defect correction: A case report. 61
32566068 2020
20
Adult Congenital Heart Disease Outpatient Clinic. Descriptive Analysis of A 12-Year Experience in Brazil. 61
32549096 2020
21
Decreased Pulmonary Arterial Compliance is a Predictor for Poor Outcomes in Infants with Isolated Atrial Septal Defect and Pulmonary Hypertension. 61
32556489 2020
22
Not all septal defects are equal. Outcomes of Bilateral Lung Transplant with Cardiac Defect Repair vs. Combined Heart-Lung Transplant in Patients with Eisenmenger's Syndrome in the United States. 61
32565271 2020
23
Standing on the ledge: atrial fibrillation ablation in patients with atrial septal closure devices. 61
32530537 2020
24
Robotic-assisted cardiac surgery without lung isolation utilizing single-lumen endotracheal tube intubation. 61
32353922 2020
25
Not just another large atrial septal defect: complex anatomy, challenging procedure, and an unusual complication. 61
32539899 2020
26
Transthoracic echocardiography monitoring during ASD closure using an artificial hand system. 61
32552906 2020
27
From Other Journals: A Review of Recent Articles in Pediatric Cardiology. 61
32572547 2020
28
Safety and efficacy of Catheter Ablation for Atrial Fibrillation in Patients with Percutaneous Atrial Septal Closure Device. Electrophysiology Collaborative Consortium for Metaanalysis - ELECTRAM Investigators. 61
32530528 2020
29
The Effect of Transcatheter Atrial Septal Defect Closure on Left Heart Function in Pediatric Patients. 61
32519981 2020
30
Preoperative Threshold for Normalizing Right Ventricular Volume After Transcatheter Closure of Adult Atrial Septal Defect. 61
32554952 2020
31
Atrial septal defect and haemodynamic consequences of continuous positive airway pressure treatment. 61
32534648 2020
32
Cryoballoon ablation from above, through a prosthetic patch atrial septal defect repair. 61
32577395 2020
33
HYDIN loss-of-function inhibits GATA4 expression and enhances atrial septal defect risk. 61
32376282 2020
34
Current practice in atrial septal defect occlusion in children and adults. 61
32441165 2020
35
ASSURED clinical study: New GORE® CARDIOFORM ASD occluder for transcatheter closure of atrial septal defect. 61
31943749 2020
36
Pulmonary hypertension after shunt closure in patients with simple congenital heart defects. 61
31926641 2020
37
Cor triatriatum with Raghib complex in partial atrioventricular septal defect and common atrium: a rare combination. 61
31250204 2020
38
Transseptal puncture versus patent foramen ovale or atrial septal defect access for left atrial appendage closure. 61
31449043 2020
39
Personalized Perioperative Multi-scale, Multi-physics Heart Simulation of Double Outlet Right Ventricle. 61
32152800 2020
40
Neuropsychological Status and Structural Brain Imaging in Adults With Simple Congenital Heart Defects Closed in Childhood. 61
32427039 2020
41
Late failure of atrial septal defect occluder device. 61
32552510 2020
42
Iatrogenic Atrial Septal Defect Causing Position-Dependent Hypoxemia. 61
32535003 2020
43
Congenital heart disease combined with Arrhythmogenic Right Ventricular Cardiomyopathy: A CARE compliant case report and literature review. 61
32569162 2020
44
Outcomes of aortic coarctation surgical repair in adolescents and adults. 61
32221581 2020
45
Pacemaker and conduction disturbances in patients with atrial septal defect. 61
32498739 2020
46
Identification of a possible association of JAK2 in development of microphthalmia, anophthalmia, and coloboma (MAC) complex in a child with 9p deletion and duplication. 61
32506980 2020
47
Survival, Morbidities, and Developmental Outcomes among Low Birth Weight Infants with Congenital Heart Defects. 61
32485756 2020
48
Congenital heart disease with pulmonary artery hypertension in an Asian cohort-initial report from TACHYON (TAiwan congenital heart disease associated with pulmonarY arterial hypertension) registry. 61
32522677 2020
49
Liver stiffness value obtained by point shear wave elastography is significantly related with atrial septal defect size. 61
32558650 2020
50
Comparative Study between Surgical Repair of Atrial Septal Defect via Median Sternotomy, Right Submammary Thoracotomy, and Right Vertical Infra-Axillary Thoracotomy. 61
32549099 2020

Variations for Atrial Heart Septal Defect

ClinVar genetic disease variations for Atrial Heart Septal Defect:

6 (show top 50) (show all 226) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RPL5 NM_000969.5(RPL5):c.74-1G>CSNV Pathogenic 523383 rs1553284997 1:93299101-93299101 1:92833544-92833544
2 NKX2-5 NM_004387.4(NKX2-5):c.711C>A (p.Tyr237Ter)SNV Pathogenic 523473 rs1554093433 5:172659836-172659836 5:173232833-173232833
3 DMD NM_004006.2(DMD):c.93+1G>CSNV Pathogenic 523470 rs886042604 X:33038255-33038255 X:33020138-33020138
4 46;XY;t(9;11)(q34;p11.2)dnTranslocation Pathogenic 267847
5 46;XY;inv(6)(p22q13)dninversion Pathogenic 267941
6 CREBBP NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln)SNV Pathogenic/Likely pathogenic 598959 rs1567263168 16:3779445-3779445 16:3729444-3729444
7 TBX5 NM_000192.3(TBX5):c.253C>A (p.Pro85Thr)SNV Likely pathogenic 626359 12:114837427-114837427 12:114399622-114399622
8 ABCC8 NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met)SNV Likely pathogenic 35609 rs141322087 11:17426099-17426099 11:17404552-17404552
9 CHD7 NM_017780.4(CHD7):c.2867C>A (p.Ser956Ter)SNV Likely pathogenic 523522 rs367557471 8:61734614-61734614 8:60822055-60822055
10 ABCC8 NM_000352.6(ABCC8):c.1793G>A (p.Arg598Gln)SNV Likely pathogenic 523361 rs1344172059 11:17452385-17452385 11:17430838-17430838
11 SETBP1 NM_015559.3(SETBP1):c.2614G>A (p.Gly872Arg)SNV Likely pathogenic 523513 rs1555706928 18:42531919-42531919 18:44951954-44951954
12 HDAC8 NM_018486.3(HDAC8):c.584T>G (p.Val195Gly)SNV Likely pathogenic 523523 rs1556009247 X:71710823-71710823 X:72490973-72490973
13 ACTL6A NM_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp)SNV Likely pathogenic 549661 rs868064163 3:179304340-179304340 3:179586552-179586552
14 46;XY;t(2;14)(p22;q24.3)dnTranslocation Likely pathogenic 268037
15 46;XY;t(3;5)(q23;q13)dnTranslocation Likely pathogenic 267884
16 MYH6 NM_002471.4(MYH6):c.5112G>A (p.Ala1704=)SNV Conflicting interpretations of pathogenicity 227592 rs150450178 14:23855188-23855188 14:23385979-23385979
17 MYH6 NM_002471.4(MYH6):c.1131C>T (p.Asp377=)SNV Conflicting interpretations of pathogenicity 227584 rs61742472 14:23871683-23871683 14:23402474-23402474
18 MYH6 NM_002471.3(MYH6):c.1244G>C (p.Gly415Ala)SNV Conflicting interpretations of pathogenicity 239163 rs759520932 14:23870084-23870084 14:23400875-23400875
19 MYH6 NM_002471.3(MYH6):c.2685+14A>TSNV Conflicting interpretations of pathogenicity 312868 rs765118655 14:23863263-23863263 14:23394054-23394054
20 MYH6 NM_002471.3(MYH6):c.5652C>T (p.Ala1884=)SNV Conflicting interpretations of pathogenicity 312839 rs200662317 14:23852443-23852443 14:23383234-23383234
21 MYH6 NM_002471.3(MYH6):c.5566-7C>TSNV Conflicting interpretations of pathogenicity 312841 rs200509899 14:23852536-23852536 14:23383327-23383327
22 MYH6 NM_002471.3(MYH6):c.5410C>A (p.Gln1804Lys)SNV Conflicting interpretations of pathogenicity 312843 rs144571463 14:23853806-23853806 14:23384597-23384597
23 ACTC1 NM_005159.4(ACTC1):c.*518A>GSNV Conflicting interpretations of pathogenicity 315690 rs115295911 15:35082095-35082095 15:34789894-34789894
24 ACTC1 NM_005159.5(ACTC1):c.1053G>C (p.Leu351=)SNV Conflicting interpretations of pathogenicity 315702 rs151321743 15:35082694-35082694 15:34790493-34790493
25 ACTC1 NM_005159.5(ACTC1):c.809-58TG[21]short repeat Conflicting interpretations of pathogenicity 315708 rs59431308 15:35083509-35083512 15:34791308-34791311
26 MYH6 NM_002471.3(MYH6):c.4695A>G (p.Leu1565=)SNV Conflicting interpretations of pathogenicity 312850 rs374702183 14:23855788-23855788 14:23386579-23386579
27 MYH6 NM_002471.3(MYH6):c.3979-10C>GSNV Conflicting interpretations of pathogenicity 312855 rs28730768 14:23858274-23858274 14:23389065-23389065
28 MYH6 NM_002471.3(MYH6):c.3979-14C>ASNV Conflicting interpretations of pathogenicity 312859 rs372226248 14:23858278-23858278 14:23389069-23389069
29 ACTC1 NM_005159.4(ACTC1):c.*846G>ASNV Conflicting interpretations of pathogenicity 315676 rs78596978 15:35081767-35081767 15:34789566-34789566
30 ACTC1 NM_005159.4(ACTC1):c.*757G>ASNV Conflicting interpretations of pathogenicity 315679 rs78727649 15:35081856-35081856 15:34789655-34789655
31 ACTC1 NM_005159.5(ACTC1):c.809-58TG[17]short repeat Conflicting interpretations of pathogenicity 315709 rs59431308 15:35083509-35083520 15:34791308-34791319
32 MYH6 NM_002471.3(MYH6):c.5403G>A (p.Glu1801=)SNV Conflicting interpretations of pathogenicity 312844 rs762151922 14:23853813-23853813 14:23384604-23384604
33 MYH6 NM_002471.3(MYH6):c.3979-8deldeletion Conflicting interpretations of pathogenicity 36628 rs193922652 14:23858272-23858272 14:23389063-23389063
34 MYH6 NM_002471.4(MYH6):c.4651-12A>CSNV Conflicting interpretations of pathogenicity 36630 rs193922653 14:23855844-23855844 14:23386635-23386635
35 MYH6 NM_002471.4(MYH6):c.4959+13G>ASNV Conflicting interpretations of pathogenicity 36631 rs28730765 14:23855511-23855511 14:23386302-23386302
36 MYH6 NM_002471.4(MYH6):c.1071C>T (p.Ile357=)SNV Conflicting interpretations of pathogenicity 44446 rs58131640 14:23871743-23871743 14:23402534-23402534
37 MYH6 NM_002471.4(MYH6):c.1809C>T (p.Asn603=)SNV Conflicting interpretations of pathogenicity 44457 rs186134696 14:23868019-23868019 14:23398810-23398810
38 MYH6 NM_002471.4(MYH6):c.2928+5G>ASNV Conflicting interpretations of pathogenicity 44473 rs28730772 14:23862870-23862870 14:23393661-23393661
39 MYH6 NM_002471.4(MYH6):c.3199A>G (p.Ser1067Gly)SNV Conflicting interpretations of pathogenicity 44477 rs145508517 14:23862173-23862173 14:23392964-23392964
40 MYH6 NM_002471.4(MYH6):c.330G>A (p.Ala110=)SNV Conflicting interpretations of pathogenicity 44481 rs77679218 14:23874851-23874851 14:23405642-23405642
41 MYH6 NM_002471.4(MYH6):c.3978+8C>TSNV Conflicting interpretations of pathogenicity 44496 rs367866050 14:23858594-23858594 14:23389385-23389385
42 MYH6 NM_002471.4(MYH6):c.4320T>A (p.Ala1440=)SNV Conflicting interpretations of pathogenicity 44509 rs145566711 14:23857403-23857403 14:23388194-23388194
43 MYH6 NM_002471.4(MYH6):c.4906C>T (p.Arg1636Cys)SNV Conflicting interpretations of pathogenicity 44525 rs149460065 14:23855577-23855577 14:23386368-23386368
44 MYH6 NM_002471.4(MYH6):c.4959+12C>TSNV Conflicting interpretations of pathogenicity 44527 rs371661383 14:23855512-23855512 14:23386303-23386303
45 MYH6 NM_002471.4(MYH6):c.5439G>A (p.Gln1813=)SNV Conflicting interpretations of pathogenicity 44536 rs200854143 14:23853777-23853777 14:23384568-23384568
46 MYH6 NM_002471.4(MYH6):c.-5C>ASNV Conflicting interpretations of pathogenicity 164261 rs183611755 14:23876437-23876437 14:23407228-23407228
47 MYH6 NM_002471.3(MYH6):c.3979-17dupduplication Conflicting interpretations of pathogenicity 179575 rs193922652 14:23858271-23858272 14:23389062-23389063
48 MYH6 NM_002471.4(MYH6):c.2430-14C>TSNV Conflicting interpretations of pathogenicity 178070 rs190342289 14:23863546-23863546 14:23394337-23394337
49 MYH6 NM_002471.4(MYH6):c.2097C>T (p.Gly699=)SNV Conflicting interpretations of pathogenicity 178071 rs149734381 14:23866243-23866243 14:23397034-23397034
50 MYH6 NM_002471.4(MYH6):c.1410C>T (p.Asp470=)SNV Conflicting interpretations of pathogenicity 178073 rs139886074 14:23869918-23869918 14:23400709-23400709

Expression for Atrial Heart Septal Defect

Search GEO for disease gene expression data for Atrial Heart Septal Defect.

Pathways for Atrial Heart Septal Defect

Pathways related to Atrial Heart Septal Defect according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.58 TBX5 NKX2-5 MYH6 GATA4 DMD
2
Show member pathways
12.4 NKX2-5 GATA6 GATA4 DMD CREBBP
3
Show member pathways
12.31 NPPB MYH6 GATA4 ACTC1
4
Show member pathways
12.24 TBX5 NPPB NKX2-5 GATA4
5
Show member pathways
11.92 TBX5 NKX2-5 GATA4 CREBBP
6 11.78 MYH6 GATA4 CREBBP
7 11.63 TBX5 NKX2-5 GATA4
8 11.47 MYH6 DMD ACTC1
9 11.18 GATA6 GATA4 CREBBP
10 11.16 TBX5 TBX20 NKX2-5 MYH6 GATA4 ACTC1
11 10.78 NPPB NKX2-5 GATA4
12 10.76 TBX5 TBX20 NKX2-5 GATA6 GATA4 FOXC1
13 10.11 NKX2-5 GATA4 ACTC1

GO Terms for Atrial Heart Septal Defect

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

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.43 TBX5 RPL5 NPPB NKX2-5 DMD CLNK
2 nuclear chromatin GO:0000790 9.17 TBX5 TBX20 NKX2-5 GATA6 GATA4 FOXC1

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.14 TBX5 TBX20 NKX2-5 GATA6 GATA4 FOXC1
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.08 TBX5 TBX20 PAGR1 NKX2-5 GATA6 GATA4
3 negative regulation of transcription by RNA polymerase II GO:0000122 10.05 TBX5 TBX20 NKX2-5 GATA6 FOXC1 CREBBP
4 positive regulation of transcription, DNA-templated GO:0045893 9.91 TBX5 TBX20 NKX2-5 GATA6 GATA4 FOXC1
5 heart looping GO:0001947 9.72 TBX20 NKX2-5 GATA4
6 positive regulation of cardiac muscle cell proliferation GO:0060045 9.7 TBX5 TBX20 GATA6
7 muscle filament sliding GO:0030049 9.69 MYH6 DMD ACTC1
8 outflow tract septum morphogenesis GO:0003148 9.63 TBX20 NKX2-5 GATA6
9 actin filament-based movement GO:0030048 9.62 MYH6 ACTC1
10 heart contraction GO:0060047 9.62 NKX2-5 ACTC1
11 cardiac muscle cell proliferation GO:0060038 9.61 NKX2-5 FOXC1
12 cardiac muscle hypertrophy in response to stress GO:0014898 9.61 MYH6 GATA6
13 cardiac muscle tissue development GO:0048738 9.61 NKX2-5 GATA6 GATA4
14 adult heart development GO:0007512 9.6 NKX2-5 MYH6
15 cardiac right ventricle morphogenesis GO:0003215 9.59 TBX20 GATA4
16 endocardial cushion development GO:0003197 9.58 TBX5 GATA4
17 embryonic heart tube development GO:0035050 9.58 TBX20 NKX2-5 FOXC1
18 cardiac ventricle morphogenesis GO:0003208 9.57 NKX2-5 GATA4
19 intestinal epithelial cell differentiation GO:0060575 9.56 GATA6 GATA4
20 cardiac muscle contraction GO:0060048 9.56 NKX2-5 MYH6 DMD ACTC1
21 cardiac muscle tissue morphogenesis GO:0055008 9.5 TBX20 NKX2-5 ACTC1
22 bundle of His development GO:0003166 9.49 TBX5 NKX2-5
23 cardiac muscle cell differentiation GO:0055007 9.46 TBX5 NKX2-5 GATA6 GATA4
24 atrial septum morphogenesis GO:0060413 9.26 TBX5 TBX20 NKX2-5 GATA4
25 positive regulation of cardioblast differentiation GO:0051891 8.92 TBX5 NKX2-5 GATA6 GATA4

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.88 TBX5 TBX20 NKX2-5 GATA6 GATA4 FOXC1
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.85 TBX5 TBX20 NKX2-5 GATA6 GATA4
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.85 TBX5 TBX20 NKX2-5 GATA6 GATA4 FOXC1
4 transcription regulatory region sequence-specific DNA binding GO:0000976 9.73 NKX2-5 GATA6 GATA4 FOXC1
5 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.65 TBX5 TBX20 NKX2-5 GATA4 FOXC1
6 transcription regulatory region DNA binding GO:0044212 9.62 NKX2-5 GATA6 GATA4 FOXC1
7 RNA polymerase II transcription factor binding GO:0001085 9.33 TBX20 GATA4 CREBBP
8 RNA polymerase II activating transcription factor binding GO:0001102 9.13 TBX5 TBX20 CREBBP
9 transcription factor binding GO:0008134 9.1 TBX5 NKX2-5 GATA6 GATA4 FOXC1 CREBBP

Sources for Atrial Heart Septal Defect

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
45 MGI
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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