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 69524004 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 DREAM Repression and Dynorphin Expression. The drugs Aspirin and Clopidogrel 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 homeostasis/metabolism

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 576)
# Related Disease Score Top Affiliating Genes
1 patent foramen ovale 34.9 TBX5 TBX20 SERPINC1 NPPB NKX2-5 MYH6
2 atrial septal defect 2 34.5 TBX20 NKX2-5 GATA4
3 atrial septal defect 5 34.4 TBX5 TBX20 NKX2-5 ACTC1
4 atrial septal defect 9 34.4 PRODH GATA6 CFAP47
5 interatrial communication 34.3 RPL5 NKX2-5 DMD CREBBP
6 holt-oram syndrome 34.2 TBX5 TBX20 NKX2-5 MYH6 GATA4
7 tricuspid atresia 33.9 TBX5 TBX20 PRODH NKX2-5 GATA4
8 ventricular septal defect 33.7 ZFHX3 TBX5 TBX20 PRODH NPPB NKX2-5
9 atrioventricular septal defect 33.7 TBX5 TBX20 NKX2-5 MYH6 GATA6 GATA4
10 hypoplastic left heart syndrome 33.7 TBX5 TBX20 NPPB NKX2-5 MYH6 GATA6
11 hypoplastic right heart syndrome 33.6 TBX5 TBX20
12 mitral valve insufficiency 32.5 TBX5 NPPB MYH6
13 atrioventricular block 32.4 TBX5 NPPB NKX2-5 GATA4
14 mitral valve stenosis 32.3 SERPINC1 NPPB F2
15 patent ductus arteriosus 1 32.3 TBX5 TBX20 SOS1 PRODH NPPB NKX2-5
16 atrial fibrillation 32.2 ZFHX3 TBX5 SERPINC1 NPPB GATA6 F2
17 pulmonary valve stenosis 32.2 TBX5 SOS1 NKX2-5 GATA4
18 tetralogy of fallot 32.1 TBX5 TBX20 SOS1 PRODH NPPB NKX2-5
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 32.0 NPPB MYH6 GATA4 DMD ACTC1
22 pulmonary edema 31.9 SERPINC1 NPPB F2
23 eisenmenger syndrome 31.8 NKX2-5 GATA4
24 coronary artery anomaly 31.8 SERPINC1 NPPB NKX2-5 MYH6 GATA4 F2
25 hypertrophic cardiomyopathy 31.8 SOS1 MYH6 DMD ACTC1
26 total anomalous pulmonary venous return 1 31.7 TBX5 NKX2-5 GATA4
27 pulmonary embolism 31.7 SERPINC1 NPPB F2
28 aortic valve disease 1 31.7 TBX5 TBX20 SOS1 NKX2-5 MYH6 GATA6
29 wolff-parkinson-white syndrome 31.7 TBX5 TBX20 NPPB NKX2-5 MYH6
30 heart valve disease 31.7 NPPB NKX2-5 MYH6 GATA4 F2
31 heart disease 31.6 ZFHX3 TBX5 TBX20 SOS1 SERPINC1 PRODH
32 aortic valve disease 2 31.6 TBX5 NPPB NKX2-5 MYH6 GATA4
33 ebstein anomaly 31.5 TBX5 TBX20 NPPB NKX2-5 MYH6 GATA4
34 respiratory failure 31.5 NPPB GATA4 F2 DMD
35 dilated cardiomyopathy 31.5 TBX5 TBX20 SOS1 NPPB NKX2-5 MYH6
36 heart septal defect 31.4 ZFHX3 TBX5 TBX20 SOS1 PRODH NKX2-5
37 intracranial embolism 31.4 SERPINC1 F2
38 double outlet right ventricle 31.4 TBX5 TBX20 NKX2-5 GATA6 GATA4
39 partial atrioventricular canal 31.3 GATA6 GATA4
40 branch retinal artery occlusion 31.1 SERPINC1 F2
41 pulmonary valve disease 31.0 TBX5 SOS1 NPPB NKX2-5 GATA6 GATA4
42 left ventricular noncompaction 31.0 TBX5 TBX20 NKX2-5 MYH6 GATA4 DMD
43 intracranial hypertension 31.0 SERPINC1 NPPB F2
44 atrial septal defect 7 with or without atrioventricular conduction defects 13.0
45 atrial septal defect sinus venosus 12.8
46 atrial septal defect coronary sinus 12.8
47 atrial heart septal defect 7 12.7
48 atrial septal defect ostium primum 12.6
49 brachydactyly, type e, with atrial septal defect, type ii 12.5
50 pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities 12.5

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 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.31 ACTC1 CREBBP DMD F2 FOXC1 GATA4
2 homeostasis/metabolism MP:0005376 10.28 ACTC1 CREBBP DMD F2 FOXC1 GATA4
3 growth/size/body region MP:0005378 10.25 ACTC1 CREBBP DMD F2 FOXC1 GATA4
4 embryo MP:0005380 10.16 CREBBP F2 FOXC1 GATA4 GATA6 NKX2-5
5 mortality/aging MP:0010768 10.13 ACTC1 CREBBP DMD F2 FOXC1 GATA4
6 digestive/alimentary MP:0005381 10.02 CREBBP DMD F2 FOXC1 GATA4 NKX2-5
7 limbs/digits/tail MP:0005371 9.91 CREBBP DMD FOXC1 GATA4 GATA6 PRODH
8 muscle MP:0005369 9.9 ACTC1 CREBBP DMD FOXC1 GATA4 GATA6
9 liver/biliary system MP:0005370 9.87 CREBBP DMD FOXC1 GATA4 GATA6 MYH6
10 normal MP:0002873 9.7 ACTC1 CREBBP DMD F2 FOXC1 GATA4
11 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 78)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
2
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
3
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
4
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
5
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
6
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
7
Racepinephrine Approved Phase 4 329-65-7 838
8
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
9
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
10 Anti-Inflammatory Agents Phase 4
11 Fibrinolytic Agents Phase 4
12 Anti-Inflammatory Agents, Non-Steroidal Phase 4
13 Neurotransmitter Agents Phase 4
14 Platelet Aggregation Inhibitors Phase 4
15 Analgesics, Non-Narcotic Phase 4
16 Antipyretics Phase 4
17 Cyclooxygenase Inhibitors Phase 4
18 Antirheumatic Agents Phase 4
19 Purinergic P2Y Receptor Antagonists Phase 4
20 Analgesics Phase 4
21 Adrenergic alpha-2 Receptor Agonists Phase 4
22 Hypnotics and Sedatives Phase 4
23 Adrenergic Agonists Phase 4
24 Adrenergic Agents Phase 4
25 Anesthetics, General Phase 4
26 Anesthetics, Dissociative Phase 4
27 Anesthetics, Intravenous Phase 4
28 Excitatory Amino Acid Antagonists Phase 4
29 Excitatory Amino Acids Phase 4
30 Carticaine Phase 4
31 Epinephryl borate Phase 4
32 Pharmaceutical Solutions Phase 4
33
Acetaminophen Approved Phase 2, Phase 3 103-90-2 1983
34
Warfarin Approved Phase 2, Phase 3 81-81-2 6691 54678486
35
Ticagrelor Approved Phase 3 274693-27-5 9871419
36
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
37 Antihypertensive Agents Phase 3
38 Endothelin Receptor Antagonists Phase 3
39
Hydrocortisone acetate Approved, Vet_approved Phase 2 50-03-3
40
Hydrocortisone Approved, Vet_approved Phase 2 50-23-7 5754
41
Tadalafil Approved, Investigational Phase 2 171596-29-5 110635
42 Vasodilator Agents Phase 2
43 Phosphodiesterase Inhibitors Phase 2
44 Phosphodiesterase 5 Inhibitors Phase 2
45 Hydrocortisone hemisuccinate Phase 2
46 Hydrocortisone 17-butyrate 21-propionate Phase 2
47
Dalteparin Approved 9005-49-6
48
Enoxaparin Approved 9005-49-6 772
49
Heparin Approved, Investigational 9005-49-6 772 46507594
50
Sodium citrate Approved, Investigational 68-04-2

Interventional clinical trials:

(show top 50) (show all 83)
# 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)/Persistent Study Completed NCT00506493 Phase 3
11 Medtronic Concomitant Utilization of Radio Frequency Energy for Atrial Fibrillation (CURE-AF)/Permanent Study Completed NCT00431834 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 Active, not recruiting NCT02891837 Phase 3 L-citrulline
14 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
15 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.
16 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
17 When Are Parents Helpful? A Randomized Clinical Trial of the Efficacy of Maternal Sound for Pediatric Patients Undergoing Cardiac Surgery Completed NCT02674126 Phase 2
18 Clinical Efficacy of Phosphodiesterase-5 Inhibitor Tadalafil in Eisenmenger Syndrome - A Randomised, Placebo Controlled, Double Blind, Crossover Study Completed NCT01200732 Phase 2 Tadalafil, placebo
19 Compassionate Use of Catheter Thrombectomy (Aspirex 11F) in Patients With Massive Pulmonary Embolism Terminated NCT00314002 Phase 1, Phase 2
20 Utilization of Confocal Microscopy During Cardiac Surgery Completed NCT03189134 Phase 1 Fluorescite
21 Radiation-Free Heart Catheterization Using MRI Recruiting NCT02739087 Phase 1
22 A Prospective, Multi-center Study to Evaluate the Safety and Performance of the Hyperion™ ASD and PDA Closure Systems. Unknown status NCT02220270
23 International Registry for Secundum Atrial Septal Defects Closure by Using the Occlutech®Flex II Device in More Than 2000 Patients Unknown status NCT02766569
24 Occluder Size Determination in Transcatheter Closure of Ostium Secundum Atrial Septal Defect Based on Three-Dimensional Echocardiography Assessment Unknown status NCT02601768
25 The Effect of the Iatrogenic Atrial Septal Defect After MitraClip Procedure on the Hemodynamic Outcome Unknown status NCT02453451
26 A Multicentre, Randomized Controlled Study of Blood Clotting After Transcatheter Atrial Septal Defect Closure Unknown status NCT01086046 Low molecular weight heparin
27 Cardiac Murmurs in Children: Predictive Value of Cardiac Markers Unknown status NCT02746029
28 Molecular Basis of Congenital Heart Defects Unknown status NCT00579358
29 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
30 GORE® HELEX® Septal Occluder Post-Approval Study Completed NCT00581308
31 Closure of Atrial Septal Defects With the AMPLATZER Septal Occluder - Post Approval Study Completed NCT00650936
32 Imaging of Atrial Septal Defects by Velocity Encoded Cardiovascular Magnetic Resonance Completed NCT00498446
33 Integration of Three-dimensional Echocardiography and Fluoroscopy Imaging During the Percutaneous Closure of intAtrial Septal Defects in Children: CIA-3D-navigator. Completed NCT02529111
34 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
35 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
36 Prospective, Monocentric Study for the Evaluation of Latent Pulmonary Arterial Hypertension in Patients With Congenital Shunt Lesions Lost to Follow-up. Completed NCT02552485
37 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
38 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
39 Protein Distribution and Colloid Osmotic Pressure in Children With Volume and Pressure Loading Due to Congenital Heart Defects Completed NCT01757743
40 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
41 Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease Completed NCT00005546
42 The Effect on Endothelial Progenitor Cells (EPCs) by Successful Cardiac Occlusion Device Implantation Completed NCT02957201
43 Evaluation of the DC Devices IASD System in the Treatment of Patients With Heart Failure With Preserved Ejection Fraction Completed NCT01570517
44 Molecular Genetic Epidemiology of Endocardial Cushion Defects - SCOR in Pediatric Cardiovascular Disease Completed NCT00005322
45 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
46 Follow up of Adults With Congenitally Malformed Hearts With Focus on Computer-Based Education and Psychosocial Support Completed NCT01234753
47 Cardiac Troponin T After Transcatheter Closure of the Interatrial Septum Completed NCT03099967
48 Case Report: Resolution of Pulmonary Hypertension With Sildenafil and Bosentan in Patients With Trisomy 21 and Atrial Septal Defect Completed NCT00478296
49 Single-center Non-comparative, Prospective Interventional Clinical Investigation on the Procedural Success and Safety of the Nit-Occlud® PFO Closure Device and Its Application System. Completed NCT00968032
50 Genetic and Clinical Studies of Congenital Anomaly Syndromes Completed NCT00001404

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, Liver, Testes, Endothelial, Kidney

Publications for Atrial Heart Septal Defect

Articles related to Atrial Heart Septal Defect:

(show top 50) (show all 8450)
# 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
[Mutation of NKX2-5 gene in patients with atrial septal defect]. 54 61
20021795 2009
3
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
4
Familial atrial septal defect in the oval fossa with progressive prolongation of the atrioventricular conduction caused by mutations in the NKX2.5 gene. 54 61
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. 54 61
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. 54 61
15369714 2004
12
A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family. 54 61
15235040 2004
13
Quantitative evaluation of the changes in plasma concentrations of cardiac natriuretic peptide before and after transcatheter closure of atrial septal defect. 54 61
12162595 2002
14
Developmental paradigms in heart disease: insights from tinman. 54 61
12173684 2002
15
Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2-5. 54 61
11073884 2000
16
Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. 54 61
10587520 1999
17
Secretion patterns of brain natriuretic peptide and atrial natriuretic peptide in patients with or without pulmonary hypertension complicating atrial septal defect. 54 61
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
'Crochetage' sign of atrial septal defect. 61
31179495 2020
20
Resource utilisation in paediatric patients with secundum atrial septal defects. 61
32036805 2020
21
Data on the role of cardiac α-actin (ACTC1) gene mutations on SRF-signaling. 61
31921954 2020
22
Repair of Superior Sinus Venosus Atrial Septal Defect Using a Modified Two-Patch Technique. 61
31472131 2020
23
Robotic repair of partial anomalous pulmonary venous connection: the initial experience and technical details. 61
30828770 2020
24
Direct Cannulation in Minimally Invasive Cardiac Surgery With Limited Resources. 61
31336068 2020
25
Pulmonary valve infective endocarditis with atrial septal defect and pulmonary valve disease-too coincidental to be true? 61
32034668 2020
26
The influence of iatrogenic atrial septal defect on the prognosis of patients with atrial fibrillation between cryoablation and radiofrequency ablation. 61
31930391 2020
27
Transcatheter Atrial Septal Defect Closure in a 'Nonagenarian' with Intractable Heart Failure: A Case Report. 61
32009097 2020
28
Initial experiences with a novel biodegradable device for percutaneous closure of atrial septal defects: From preclinical study to first-in-human experience. 61
31714687 2020
29
Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan. 61
31837205 2020
30
Living With, and Caring for, Congenital Heart Disease in Australia: Insights From the Congenital Heart Alliance of Australia and New Zealand Online Survey. 61
30826267 2020
31
Risk factors and outcomes of intravenous tissue plasminogen activator and endovascular thrombectomy utilization amongst pediatrics acute ischemic stroke. 61
32009581 2020
32
Endoscopic closure of a bronchopleural fistula after pneumonectomy with the Amplatzer occluder: a step forward? 61
31603203 2020
33
Pulmonary hypertension after shunt closure in patients with simple congenital heart defects. 61
31926641 2020
34
Protein expression profile changes of lung tissue in patients with pulmonary hypertension. 61
32030316 2020
35
Reversible atrioventricular block after atrial septal defect closure with a Gore Cardioform Septal Occluder. 61
31996855 2020
36
Transcatheter closure of atrial septal defect in symptomatic children weighing ≤10 kg: Addressing unanswered issues from a decade of experience. 61
32030029 2020
37
Transcatheter Mitral Valve Implantation (TMVI) Using Edwards SAPIEN 3 Prostheses in Patients at Very High or Prohibitive Surgical Risk: A Single-Center Experience. 61
31992963 2020
38
Novel truncating variant of PPM1D penultimate exon in a Chinese patient with Jansen-de Vries syndrome. 61
31916397 2020
39
Cardiovascular Imaging for Guiding Interventional Therapy in Structural Heart Diseases. 61
32003311 2020
40
Global, regional, and national burden of congenital heart disease, 1990-2017: a systematic analysis for the Global Burden of Disease Study 2017. 61
31978374 2020
41
Haploinsufficiency of AKT3 gene causing microcephaly and psychomotor delay in a patient with 1q43q44 microdeletion. 61
31929334 2020
42
Clinical evaluation of percutaneous and intra-operative device closure of atrial septal defects under transesophageal echocardiographic guidance: one center experience and mid-term follow-up. 61
31937330 2020
43
Beyond atrial septal defect closure, it is time to start seriously considering closing ventricular septal defects with devices. 61
31652133 2020
44
[Congenital heart defects in the Valencian Community 2007-2014: The Population-Based Registry Of Congenital Anomalies]. 61
31122878 2020
45
Aberrant right subclavian artery with atrial septal defect: Simultaneous repair via median sternotomy. 61
32004900 2020
46
ASSURED clinical study: New GORE® CARDIOFORM ASD occluder for transcatheter closure of atrial septal defect. 61
31943749 2020
47
Transcatheter and intraoperative device closure of atrial septal defect in infants under three years of age. 61
31915066 2020
48
Impact of Transcatheter Device Closure of Atrial Septal Defect on Atrial Arrhythmias Propensity in Young Adults. 61
31673734 2020
49
A Long-Term Complication Occurred After Transcatheter Closure of Large Atrial Septal Defect. 61
31956133 2020
50
[Sinus septal defect closure with correction of partial anomalous pulmonary vein drainage through mini-thoracotomy]. 61
31994505 2020

Variations for Atrial Heart Septal Defect

ClinVar genetic disease variations for Atrial Heart Septal Defect:

6 (show top 50) (show all 225) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 46;XY;t(9;11)(q34;p11.2)dnTranslocation Pathogenic 267847
2 46;XY;inv(6)(p22q13)dninversion Pathogenic 267941
3 RPL5 NM_000969.5(RPL5):c.74-1G>CSNV Pathogenic 523383 rs1553284997 1:93299101-93299101 1:92833544-92833544
4 NKX2-5 NM_004387.4(NKX2-5):c.711C>A (p.Tyr237Ter)SNV Pathogenic 523473 rs1554093433 5:172659836-172659836 5:173232833-173232833
5 DMD NM_004006.2(DMD):c.93+1G>CSNV Pathogenic 523470 rs886042604 X:33038255-33038255 X:33020138-33020138
6 CREBBP NM_001079846.1(CREBBP):c.5489G>A (p.Arg1830Gln)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 CHD7 NM_017780.4(CHD7):c.2867C>A (p.Ser956Ter)SNV Likely pathogenic 523522 rs367557471 8:61734614-61734614 8:60822055-60822055
9 ABCC8 NM_001287174.2(ABCC8):c.1793G>A (p.Arg598Gln)SNV Likely pathogenic 523361 rs1344172059 11:17452385-17452385 11:17430838-17430838
10 SETBP1 NM_015559.3(SETBP1):c.2614G>A (p.Gly872Arg)SNV Likely pathogenic 523513 rs1555706928 18:42531919-42531919 18:44951954-44951954
11 HDAC8 NM_018486.3(HDAC8):c.584T>G (p.Val195Gly)SNV Likely pathogenic 523523 rs1556009247 X:71710823-71710823 X:72490973-72490973
12 ACTL6A NM_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp)SNV Likely pathogenic 549661 rs868064163 3:179304340-179304340 3:179586552-179586552
13 46;XY;t(2;14)(p22;q24.3)dnTranslocation Likely pathogenic 268037
14 46;XY;t(3;5)(q23;q13)dnTranslocation Likely pathogenic 267884
15 ABCC8 NM_001287174.2(ABCC8):c.3520G>A (p.Val1174Met)SNV Likely pathogenic 35609 rs141322087 11:17426099-17426099 11:17404552-17404552
16 MYH6 NM_002471.3(MYH6):c.5112G>A (p.Ala1704=)SNV Conflicting interpretations of pathogenicity 227592 rs150450178 14:23855188-23855188 14:23385979-23385979
17 MYH6 NM_002471.3(MYH6):c.4960-9G>ASNV Conflicting interpretations of pathogenicity 179576 rs557113705 14:23855349-23855349 14:23386140-23386140
18 MYH6 NM_002471.3(MYH6):c.4293G>A (p.Met1431Ile)SNV Conflicting interpretations of pathogenicity 179022 rs201016285 14:23857430-23857430 14:23388221-23388221
19 MYH6 NM_002471.3(MYH6):c.981C>T (p.Ser327=)SNV Conflicting interpretations of pathogenicity 178078 rs148407931 14:23871927-23871927 14:23402718-23402718
20 MYH6 NM_002471.3(MYH6):c.-5C>ASNV Conflicting interpretations of pathogenicity 164261 rs183611755 14:23876437-23876437 14:23407228-23407228
21 MYH6 NM_002471.3(MYH6):c.3979-17dupduplication Conflicting interpretations of pathogenicity 179575 rs193922652 14:23858271-23858272 14:23389062-23389063
22 MYH6 NM_002471.3(MYH6):c.2430-14C>TSNV Conflicting interpretations of pathogenicity 178070 rs190342289 14:23863546-23863546 14:23394337-23394337
23 MYH6 NM_002471.3(MYH6):c.2097C>T (p.Gly699=)SNV Conflicting interpretations of pathogenicity 178071 rs149734381 14:23866243-23866243 14:23397034-23397034
24 MYH6 NM_002471.3(MYH6):c.1410C>T (p.Asp470=)SNV Conflicting interpretations of pathogenicity 178073 rs139886074 14:23869918-23869918 14:23400709-23400709
25 MYH6 NM_002471.3(MYH6):c.1122G>A (p.Ala374=)SNV Conflicting interpretations of pathogenicity 178076 rs148091079 14:23871692-23871692 14:23402483-23402483
26 MYH6 NM_002471.3(MYH6):c.831G>T (p.Gln277His)SNV Conflicting interpretations of pathogenicity 177985 rs140660481 14:23872624-23872624 14:23403415-23403415
27 MYH6 NM_002471.3(MYH6):c.86G>A (p.Arg29Gln)SNV Conflicting interpretations of pathogenicity 164258 rs150574114 14:23876347-23876347 14:23407138-23407138
28 MYH6 NM_002471.3(MYH6):c.36G>A (p.Ala12=)SNV Conflicting interpretations of pathogenicity 164259 rs141014719 14:23876397-23876397 14:23407188-23407188
29 MYH6 NM_002471.3(MYH6):c.3979-8deldeletion Conflicting interpretations of pathogenicity 36628 rs193922652 14:23858272-23858272 14:23389063-23389063
30 MYH6 NM_002471.3(MYH6):c.4651-12A>CSNV Conflicting interpretations of pathogenicity 36630 rs193922653 14:23855844-23855844 14:23386635-23386635
31 MYH6 NM_002471.3(MYH6):c.4959+13G>ASNV Conflicting interpretations of pathogenicity 36631 rs28730765 14:23855511-23855511 14:23386302-23386302
32 MYH6 NM_002471.3(MYH6):c.1071C>T (p.Ile357=)SNV Conflicting interpretations of pathogenicity 44446 rs58131640 14:23871743-23871743 14:23402534-23402534
33 MYH6 NM_002471.3(MYH6):c.1809C>T (p.Asn603=)SNV Conflicting interpretations of pathogenicity 44457 rs186134696 14:23868019-23868019 14:23398810-23398810
34 MYH6 NM_002471.3(MYH6):c.2928+5G>ASNV Conflicting interpretations of pathogenicity 44473 rs28730772 14:23862870-23862870 14:23393661-23393661
35 MYH6 NM_002471.3(MYH6):c.3199A>G (p.Ser1067Gly)SNV Conflicting interpretations of pathogenicity 44477 rs145508517 14:23862173-23862173 14:23392964-23392964
36 MYH6 NM_002471.3(MYH6):c.330G>A (p.Ala110=)SNV Conflicting interpretations of pathogenicity 44481 rs77679218 14:23874851-23874851 14:23405642-23405642
37 ACTC1 NM_005159.5(ACTC1):c.28C>A (p.Leu10Met)SNV Conflicting interpretations of pathogenicity 50936 rs397517057 15:35086982-35086982 15:34794781-34794781
38 MYH6 NM_002471.3(MYH6):c.1244G>C (p.Gly415Ala)SNV Conflicting interpretations of pathogenicity 239163 rs759520932 14:23870084-23870084 14:23400875-23400875
39 MYH6 NM_002471.3(MYH6):c.2685+14A>TSNV Conflicting interpretations of pathogenicity 312868 rs765118655 14:23863263-23863263 14:23394054-23394054
40 MYH6 NM_002471.3(MYH6):c.3978+8C>TSNV Conflicting interpretations of pathogenicity 44496 rs367866050 14:23858594-23858594 14:23389385-23389385
41 MYH6 NM_002471.3(MYH6):c.4320T>A (p.Ala1440=)SNV Conflicting interpretations of pathogenicity 44509 rs145566711 14:23857403-23857403 14:23388194-23388194
42 MYH6 NM_002471.3(MYH6):c.4906C>T (p.Arg1636Cys)SNV Conflicting interpretations of pathogenicity 44525 rs149460065 14:23855577-23855577 14:23386368-23386368
43 MYH6 NM_002471.3(MYH6):c.4959+12C>TSNV Conflicting interpretations of pathogenicity 44527 rs371661383 14:23855512-23855512 14:23386303-23386303
44 MYH6 NM_002471.3(MYH6):c.5439G>A (p.Gln1813=)SNV Conflicting interpretations of pathogenicity 44536 rs200854143 14:23853777-23853777 14:23384568-23384568
45 MYH6 NM_002471.3(MYH6):c.5652C>T (p.Ala1884=)SNV Conflicting interpretations of pathogenicity 312839 rs200662317 14:23852443-23852443 14:23383234-23383234
46 MYH6 NM_002471.3(MYH6):c.5566-7C>TSNV Conflicting interpretations of pathogenicity 312841 rs200509899 14:23852536-23852536 14:23383327-23383327
47 MYH6 NM_002471.3(MYH6):c.5410C>A (p.Gln1804Lys)SNV Conflicting interpretations of pathogenicity 312843 rs144571463 14:23853806-23853806 14:23384597-23384597
48 MYH6 NM_002471.3(MYH6):c.3979-14C>ASNV Conflicting interpretations of pathogenicity 312859 rs372226248 14:23858278-23858278 14:23389069-23389069
49 ACTC1 NM_005159.5(ACTC1):c.1053G>C (p.Leu351=)SNV Conflicting interpretations of pathogenicity 315702 rs151321743 15:35082694-35082694 15:34790493-34790493
50 ACTC1 NM_005159.5(ACTC1):c.809-58TG[21]short repeat Conflicting interpretations of pathogenicity 315708 rs59431308 15:35083509-35083512 15:34791308-34791311

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 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.6 TBX5 NKX2-5 MYH6 GATA4 DMD
2
Show member pathways
12.43 NKX2-5 GATA6 GATA4 DMD CREBBP
3
Show member pathways
12.24 TBX5 NPPB NKX2-5 GATA4
4
Show member pathways
11.96 TBX5 NKX2-5 GATA4 CREBBP
5 11.49 MYH6 DMD ACTC1
6 11.25 ZFHX3 GATA6 GATA4 FOXC1
7 11.23 GATA6 GATA4 CREBBP
8 11.16 TBX5 TBX20 NKX2-5 MYH6 GATA4 ACTC1
9 10.78 NPPB NKX2-5 GATA4
10 10.76 TBX5 TBX20 NKX2-5 GATA6 GATA4 FOXC1
11 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 9.23 ZFHX3 TBX5 TBX20 NKX2-5 GATA6 GATA4

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.11 ZFHX3 TBX5 TBX20 NKX2-5 GATA6 GATA4
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.08 ZFHX3 TBX5 TBX20 NKX2-5 GATA6 GATA4
3 negative regulation of transcription by RNA polymerase II GO:0000122 10.05 ZFHX3 TBX5 TBX20 NKX2-5 GATA6 FOXC1
4 blood coagulation GO:0007596 9.87 SERPINC1 GATA6 GATA4 F2
5 positive regulation of transcription, DNA-templated GO:0045893 9.86 ZFHX3 TBX5 TBX20 NKX2-5 GATA6 GATA4
6 heart looping GO:0001947 9.75 TBX20 NKX2-5 GATA4
7 heart morphogenesis GO:0003007 9.73 SOS1 NKX2-5 FOXC1
8 positive regulation of cardiac muscle cell proliferation GO:0060045 9.72 TBX5 TBX20 GATA6
9 muscle filament sliding GO:0030049 9.71 MYH6 DMD ACTC1
10 outflow tract septum morphogenesis GO:0003148 9.67 TBX20 NKX2-5 GATA6
11 heart contraction GO:0060047 9.64 NKX2-5 ACTC1
12 cardiac muscle hypertrophy in response to stress GO:0014898 9.63 MYH6 GATA6
13 adult heart development GO:0007512 9.63 NKX2-5 MYH6
14 cardiac right ventricle morphogenesis GO:0003215 9.62 TBX20 GATA4
15 cardiac muscle cell proliferation GO:0060038 9.62 NKX2-5 FOXC1
16 cardiac muscle contraction GO:0060048 9.62 NKX2-5 MYH6 DMD ACTC1
17 regulation of blood coagulation GO:0030193 9.61 SERPINC1 F2
18 endocardial cushion development GO:0003197 9.61 TBX5 GATA4
19 cardiac muscle tissue development GO:0048738 9.61 NKX2-5 GATA6 GATA4
20 cardiac ventricle morphogenesis GO:0003208 9.6 NKX2-5 GATA4
21 intestinal epithelial cell differentiation GO:0060575 9.59 GATA6 GATA4
22 pericardium morphogenesis GO:0003344 9.58 TBX20 SOS1
23 embryonic heart tube development GO:0035050 9.58 TBX20 NKX2-5 FOXC1
24 cardiac muscle tissue morphogenesis GO:0055008 9.54 TBX20 NKX2-5 ACTC1
25 bundle of His development GO:0003166 9.52 TBX5 NKX2-5
26 cardiac muscle cell differentiation GO:0055007 9.46 TBX5 NKX2-5 GATA6 GATA4
27 atrial septum morphogenesis GO:0060413 9.26 TBX5 TBX20 NKX2-5 GATA4
28 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 sequence-specific DNA binding GO:0043565 9.88 ZFHX3 TBX5 NKX2-5 GATA6 GATA4 FOXC1
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.87 ZFHX3 TBX5 TBX20 NKX2-5 GATA6 GATA4
3 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.85 TBX5 TBX20 NKX2-5 GATA4 FOXC1
4 DNA-binding transcription factor activity GO:0003700 9.8 ZFHX3 TBX5 TBX20 NKX2-5 GATA6 GATA4
5 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.63 ZFHX3 TBX5 TBX20 NKX2-5 GATA6 GATA4
6 RNA polymerase II transcription factor binding GO:0001085 9.61 TBX20 GATA4 CREBBP
7 RNA polymerase II activating transcription factor binding GO:0001102 9.54 TBX5 TBX20 CREBBP
8 transcription regulatory region DNA binding GO:0044212 9.35 ZFHX3 NKX2-5 GATA6 GATA4 FOXC1
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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