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MCID: HRT011
MIFTS: 49

Heart Septal Defect

Categories: Cardiovascular diseases
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Aliases & Classifications for Heart Septal Defect

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MalaCards integrated aliases for Heart Septal Defect:

Name: Heart Septal Defect 11 14 75
Heart Septal Defects 43 71
Septal Defect 11 53
Congenital Septal Defect of Heart 11
Cardiac Septal Defects 11

Classifications:

MalaCards categories:
Anatomical: Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 31


External Ids:

Disease Ontology 11 DOID:1681
MeSH 43 D006343
NCIt 49 C84482
SNOMED-CT 68 204290008
ICD10 31 Q21.9
UMLS 71 C0018816
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Summaries for Heart Septal Defect

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MalaCards based summary: Heart Septal Defect, also known as heart septal defects, is related to atrial septal defect 2 and atrial septal defect 5. An important gene associated with Heart Septal Defect is NKX2-5 (NK2 Homeobox 5), and among its related pathways/superpathways are Human Embryonic Stem Cell Pluripotency and 22q11.2 copy number variation syndrome. The drugs Dexmedetomidine and Acetylsalicylic acid have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and endothelial, and related phenotypes are normal and muscle

Wikipedia: 75 Heart septal defect refers to a congenital heart defect of one of the septa of the... more...
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Related Diseases for Heart Septal Defect

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

(show top 50) (show all 1082)
# Related Disease Score Top Affiliating Genes
1 atrial septal defect 2 33.0 TBX5 TBX20 NKX2-5 GATA4
2 atrial septal defect 5 33.0 TBX5 TBX20 NKX2-5 CRELD1
3 atrial septal defect 9 32.9 PRODH CFAP47
4 congenital heart defects, multiple types, 4 32.9 GATA4 CRELD1
5 tetralogy of fallot 32.8 TBX5 TBX20 TBX1 PRODH NKX2-5 MYH6
6 right atrial isomerism 32.7 TBX5 TBX20 NKX2-5
7 double outlet right ventricle 32.6 TBX5 TBX20 TBX1 NKX2-5 MYH6 MEF2C
8 atrial heart septal defect 32.5 ZFHX3 TBX5 TBX20 TBX1 RNU4ATAC PRODH
9 hypoplastic right heart syndrome 32.5 TBX5 TBX20 NKX2-5 HAND2
10 subvalvular aortic stenosis 32.4 TBX20 NKX2-5
11 tricuspid atresia 32.4 TBX5 TBX20 TBX1 PRODH NKX2-5 MEF2C
12 atrioventricular block 32.0 TBX5 NKX2-5 MYH6 GATA4
13 third-degree atrioventricular block 32.0 TBX5 NKX2-5 MYH6
14 transposition of the great arteries, dextro-looped 32.0 TBX5 TBX20 TBX1 NKX2-5 MIR423 ISL1
15 atrioventricular septal defect 31.9 TBX5 TBX20 TBX1 PRODH NKX2-5 MYH6
16 hypoplastic left heart syndrome 31.9 TBX5 TBX20 TBX1 NKX2-5 MYH6 MEF2C
17 pulmonary valve stenosis 31.7 TBX5 NKX2-5 MIR499A GATA4
18 total anomalous pulmonary venous return 1 31.7 TBX5 NKX2-5 GATA4 CRELD1
19 ebstein anomaly 31.6 TBX5 TBX20 NKX2-5 MYH6 HAND2 GATA4
20 ventricular septal defect 31.5 ZFHX3 TBX5 TBX20 TBX1 PRODH NKX2-5
21 orthostatic intolerance 31.5 TBX5 TBX20 NKX2-5 MYH6 MIR423
22 myocardial infarction 31.4 MYH6 MIR499A MIR423 MIR199A1 MIR17 MEF2C
23 orofaciodigital syndrome viii 31.3 TBX5 NKX2-5 GATA4
24 cardiomyopathy, familial hypertrophic, 1 31.2 NKX2-5 MYH6 MEF2C GATA4
25 wolff-parkinson-white syndrome 31.1 TBX5 TBX20 NKX2-5 MYH6
26 left ventricular noncompaction 31.1 TBX5 TBX20 NKX2-5 MYH6 GATA4 CRELD1
27 chromosome 22q11.2 deletion syndrome, distal 31.1 TBX5 TBX20 TBX1 PRODH NKX2-5 GATA4
28 hypertrophic cardiomyopathy 31.0 TBX5 TBX20 NKX2-5 MYH6 MIR590 MIR499A
29 heart valve disease 30.9 NKX2-5 MYH6 MIR499A MIR423 MIR199A1 MIR17
30 patau syndrome 30.9 TBX5 TBX1 NKX2-5 GATA4
31 lipoprotein quantitative trait locus 30.9 TBX5 TBX20 NKX2-5 MYH6 MIR590 MIR499A
32 arteries, anomalies of 30.9 MIR590 MIR499A MIR423 MIR199A1 MIR17 MIR15B
33 noonan syndrome 1 30.9 TBX5 TBX20 TBX1 NKX2-5 MYH6 MIR499A
34 velocardiofacial syndrome 30.8 TBX5 TBX20 TBX1 PRODH NKX2-5 GATA4
35 aortic aneurysm, familial thoracic 1 30.7 TBX5 TBX20 NKX2-5 MYH6 GATA4
36 peripartum cardiomyopathy 30.7 MYH6 MIR423 MIR199A1
37 intermediate coronary syndrome 30.7 MIR499A MIR423 MIR17
38 retinal vascular disease 30.6 MIR499A MIR423 MIR199A1 MIR17
39 dilated cardiomyopathy 30.6 TBX5 TBX20 NKX2-5 MYH6 MIR590 MIR499A
40 brugada syndrome 30.6 TBX5 NKX2-5 MYH6 GATA4
41 interatrial communication 30.5 TBX5 NKX2-5
42 mitral valve insufficiency 30.5 TBX5 MYH6 MIR423
43 cerebrovascular disease 30.5 MIR499A MIR423 MIR199A1 MIR17
44 aortic valve disease 2 30.4 TBX5 NKX2-5 MYH6 MIR423 MIR199A1 MIR17
45 pulmonary valve disease 30.4 TBX5 NKX2-5 MIR499A GATA4
46 williams-beuren syndrome 30.3 TBX5 TBX20 TBX1 PRODH NKX2-5 MYH6
47 holt-oram syndrome 30.3 TBX5 TBX20 TBX1 PRODH NKX2-5 MYH6
48 jacobsen syndrome 30.3 TBX5 TBX20 NKX2-5 GATA4
49 patent foramen ovale 30.3 TBX5 TBX20 TBX1 NKX2-5 MYH6 HAND2
50 connective tissue disease 30.3 RNU4ATAC PRODH MIR590 MIR423 MIR199A1 MIR17

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



Diseases related to Heart Septal Defect
Sources

Symptoms & Phenotypes for Heart Septal Defect

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MGI Mouse Phenotypes related to Heart Septal Defect:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 10.02 GATA4 HAND2 ISL1 MEF2C MIR499A NKX2-5
2 muscle MP:0005369 9.96 GATA4 HAND2 ISL1 MEF2C MIR499A MYH6
3 limbs/digits/tail MP:0005371 9.7 GATA4 HAND2 ISL1 MEF2C PRODH TBX1
4 embryo MP:0005380 9.61 CRELD1 GATA4 HAND2 ISL1 MEF2C NKX2-5
5 craniofacial MP:0005382 9.17 CRELD1 HAND2 ISL1 MEF2C NKX2-5 TBX1
Sources

Drugs & Therapeutics for Heart Septal Defect

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

(show top 50) (show all 80)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexmedetomidine Approved, Experimental, Vet_approved Phase 4 86347-14-0, 113775-47-6 68602 5311068
2
Acetylsalicylic acid Approved, Vet_approved Phase 4 50-78-2 2244
3
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
4
Salbutamol Approved, Vet_approved Phase 4 18559-94-9 2083
5
Ketamine Approved, Vet_approved Phase 4 6740-88-1, 1867-66-9 3821
6
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
7
Racepinephrine Approved, Vet_approved Phase 4 51-43-4, 329-65-7 838 5816
8
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
9
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
10 Analgesics Phase 4
11 Adrenergic alpha-Agonists Phase 4
12 Adrenergic Agonists Phase 4
13 Adrenergic Agents Phase 4
14 Neurotransmitter Agents Phase 4
15 Anesthetics, Intravenous Phase 4
16 Anesthetics, General Phase 4
17 Hypnotics and Sedatives Phase 4
18 Analgesics, Non-Narcotic Phase 4
19 Purinergic P2Y Receptor Antagonists Phase 4
20 Platelet Aggregation Inhibitors Phase 4
21 Bronchodilator Agents Phase 4
22 Adrenergic beta-Agonists Phase 4
23 Anti-Asthmatic Agents Phase 4
24 Respiratory System Agents Phase 4
25 Tocolytic Agents Phase 4
26 Excitatory Amino Acid Antagonists Phase 4
27 Anesthetics, Dissociative Phase 4
28 Pharmaceutical Solutions Phase 4
29 Anesthetics Phase 4
30 Epinephryl borate Phase 4
31 Carticaine Phase 4
32 Anesthetics, Local Phase 4
33
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
34
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
35
Tannic acid Approved Phase 3 1401-55-4 16129878 16129778
36
Enalaprilat Approved Phase 3 76420-72-9 6917719 5462501
37
Enalapril Approved, Vet_approved Phase 3 75847-73-3 40466924 5388962 5362032
38 Endothelin Receptor Antagonists Phase 3
39 Plasma-lyte 148 Phase 3
40 Ophthalmic Solutions Phase 3
41 Antihypertensive Agents Phase 3
42 Angiotensin-Converting Enzyme Inhibitors Phase 3
43 HIV Protease Inhibitors Phase 3
44
protease inhibitors Phase 3
45
Sodium citrate Approved, Investigational Phase 2 68-04-2 23431961
46
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 2 437-38-7 3345
47
Lidocaine Approved, Vet_approved Phase 2 137-58-6 3676
48
Sildenafil Approved, Investigational Phase 1, Phase 2 139755-83-2, 171599-83-0 5212 135398744
49
Milrinone Approved Phase 1, Phase 2 78415-72-2 4197
50
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311

Interventional clinical trials:

(show top 50) (show all 108)
# 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 The Cardiopulmonary Effect of Inhaled Beta-2-agonists on Adult Ventrucular Septal Defect Patients With Persistant or Surgically Corrected Conditions - The VENTI Trial Completed NCT02914652 Phase 4 Salbutamol;Norflouran (Placebo Evohaler(R) )
4 Comparative Effects of Dexmedetomidine and Ketofol for Sedation in Out-patients Undergoing Diagnostic Trans-esophageal Echocardiography: A Randomized Controlled Trial Completed NCT02867930 Phase 4 Dexmedetomidine;Ketofol(ketamine+propofol)
5 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
6 Endoscopic Closure of Tracheoesophageal Fistulas With a Cardiac Septal Defect Occluder Terminated NCT01153061 Phase 4
7 A Randomized Controlled Trial of Minimally Invasive Transthoracic Device Closure in the Treatment of Patients With Perimembranous Ventricular Septal Defect Unknown status NCT02644330 Phase 2, Phase 3
8 Infant Heart Surgery: Central Nervous System Sequelae of Circulatory Arrest Completed NCT00000470 Phase 3
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 The Pharmacology of Dexmedetomidine in Children With Congenital Heart Disease Completed NCT00480740 Phase 3 Dexmedetomidine
11 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 Patients Undergoing Surgery for Congenital Heart Defects Recruiting NCT05253209 Phase 3 L-citrulline;Plasmalyte A
12 Trial of ACE Inhibition in Children With Mitral Regurgitation After Repair of AVSD Terminated NCT00113698 Phase 3 Enalapril
13 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.
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 Iatrogenic Atrial Septal Defect Study Withdrawn NCT04395027 Phase 3
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 Stress Response in Children Undergoing Cardiac Surgery: a Prospective Randomized Comparison Between Low Dose Fentanyl (LDF), Low Dose Fentanyl Plus Dexmedetomidine (LDF + Dex) and High Dose Fentanyl (HDF). Completed NCT00848393 Phase 2 Fentanyl (High Dose);Fentanyl (Low Dose);Fentanyl (Low Dose) + Dexmedetomidine
18 The Use of Hypertonic Saline Dextran in Cardiac Surgery Utilizing Cardio Pulmonary Bypass in Children Less Than 17 Weeks Old. Completed NCT00199771 Phase 2 7.5% NaCl in 6% dextran 70 solution
19 Use of Ketamine Prior to Cardiopulmonary Bypass in Children Completed NCT00556361 Phase 2 saline;ketamine
20 Comparison of Erector Spinae Plane Block and Pecto-Intercostal Facial Plane Block For Enhanced Recovery After Sternotomy in Adult Cardiac Surgery Completed NCT05475561 Phase 2 Bupivacain
21 Effects of Adding Oral Sildenafil to Intravenous Milrinone on Postoperative Pulmonary Hypertension in Pediatric Undergoing Repair of Ventricular Septal Defect Completed NCT02595541 Phase 1, Phase 2 milrinone;Sildenafil
22 Optical Tissue Identification for Myocardial Architecture (OPTIMA Study) Active, not recruiting NCT04017975 Phase 2 Fluorescite
23 Closure of Perimembranous Ventricular Septal Defects With The AMPLATZER® Membranous VSD OCCLUDER Completed NCT00578708 Phase 1
24 A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics Completed NCT01915277 Phase 1 Dexmedetomidine
25 Utilization of Confocal Microscopy During Cardiac Surgery Completed NCT03189134 Phase 1 Fluorescite
26 Phase 1 Study of the Safety and Pharmacokinetics of Perioperative IV L-carnitine Administration in Patients With Congenital Heart Disease With Increased Pulmonary Blood Flow Withdrawn NCT01825369 Phase 1 IV L-carnitine
27 A Randomized Multicenter Comparison Trial to Evaluate the Effectiveness and Safety of the Guidewire for Echo-guided Interventions in Treating ASD Unknown status NCT04096924
28 International Registry for Secundum Atrial Septal Defects Closure by Using the Occlutech®Flex II Device in More Than 2000 Patients Unknown status NCT02766569
29 Occluder Size Determination in Transcatheter Closure of Ostium Secundum Atrial Septal Defect Based on Three-Dimensional Echocardiography Assessment Unknown status NCT02601768
30 A Multicentre, Randomized Controlled Study of Blood Clotting After Transcatheter Atrial Septal Defect Closure Unknown status NCT01086046 Low molecular weight heparin
31 The Effect of the Iatrogenic Atrial Septal Defect After MitraClip Procedure on the Hemodynamic Outcome Unknown status NCT02453451
32 Suture Mediated Septal Defect Closure/Repair Evaluation of the NobleStitch EL System Unknown status NCT03373929
33 Aortic Regurgitation After Surgical Repair of Outlet-Type Ventricular Septal Defect Unknown status NCT00173186
34 Changes in Ventricular Remodeling and Exercise Cardiopulmonary Function After Transcatheter Closure of Ventricular Septal Defect Unknown status NCT03127748
35 Study of Energy Expenditure in Infants With Ventricular Septal Defects Unknown status NCT00006272
36 Chinese Academy of Medical Sciences, Fuwai Hospital Unknown status NCT03941691
37 InterSEPT: In-Tunnel SeptRx European PFO Trial: A Prospective, Multi-Center Study to Evaluate the Safety and Performance of the SeptRx IPO PFO Closure System Unknown status NCT01385670
38 "Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects" (CARDIoG) Unknown status NCT02503267
39 A Prospective, Multi-center Study to Evaluate the Safety and Performance of the Hyperionâ„¢ ASD and PDA Closure Systems. Unknown status NCT02220270
40 Prospective, Monocentric Study for the Evaluation of Latent Pulmonary Arterial Hypertension in Patients With Congenital Shunt Lesions Lost to Follow-up. Completed NCT02552485
41 Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease Completed NCT00005546
42 Molecular Genetic Epidemiology of Endocardial Cushion Defects - SCOR in Pediatric Cardiovascular Disease Completed NCT00005322
43 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
44 Ad Hoc Analysis for the Evaluation of Dynamic Pulmonary Vascular Resistance in Patients With a Closed Ventricular Septal Defect Completed NCT02648984
45 International Multicentre Clinical Device Investigation on Safety and Effectiveness of the Nit-Occlud® Lê VSD Spiral Coil System for VSD Occlusion Developed by Pfm AG, Cologne Completed NCT00390702
46 Closure of Atrial Septal Defects With the AMPLATZER Septal Occluder - Post Approval Study Completed NCT00650936
47 Cardiopulmonary Function in Adults Born With a Ventricular Septal Defect Completed NCT03684161
48 The Effect on Endothelial Progenitor Cells (EPCs) by Successful Cardiac Occlusion Device Implantation Completed NCT02957201
49 Cardiac Output During Exercise in Young Adults Operated for Ventricular Septal Defect as Children Completed NCT02138435
50 Imaging of Atrial Septal Defects by Velocity Encoded Cardiovascular Magnetic Resonance Completed NCT00498446

Search NIH Clinical Center for Heart Septal Defect

Cochrane evidence based reviews: heart septal defects

Sources

Genetic Tests for Heart Septal Defect

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Sources

Anatomical Context for Heart Septal Defect

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Organs/tissues related to Heart Septal Defect:

MalaCards : Heart, Lung, Endothelial, Brain, Liver, Atrioventricular Node, Smooth Muscle
Sources

Publications for Heart Septal Defect

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Articles related to Heart Septal Defect:

(show top 50) (show all 22223)
# Title Authors PMID Year
1
GATA4 mutations in Chinese patients with congenital cardiac septal defects. 53 62
19915893 2010
2
[Preliminary functional analysis of a novel mutation in GATA-4 gene in Chinese patients with congenital cardiac septal defects]. 53 62
19504439 2009
3
[Association between GATA-4 mutations and congenital cardiac septal defects in Han Chinese patients]. 53 62
19781215 2009
4
Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects. 53 62
18076106 2008
5
GATA4 sequence variants in patients with congenital heart disease. 53 62
18055909 2007
6
Spectrum of heart disease associated with murine and human GATA4 mutation. 53 62
17643447 2007
7
Screening and biochemical analysis of GATA4 sequence variations identified in patients with congenital heart disease. 53 62
17352393 2007
8
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. 53 62
12845333 2003
9
Detection rates of a national fetal anomaly screening programme: A national cohort study. 62
36054171 2023
10
Endovascular Repair of an Intrathoracic Subclavian Artery Aneurysm in a Patient With Dextrocardia. 62
35675973 2023
11
Outcomes of Gastrostomy Tubes in Newborns With Congenital Heart Disease and Comparison of Techniques. 62
36063624 2022
12
Monitoring of intraoperative femoral oxygenation predicts acute kidney injury after pediatric cardiac surgery. 62
36032034 2022
13
Intravascular ultrasound-guided transcaval approach for thoracic endovascular aneurysm repair. 62
36262916 2022
14
Effect of aortic arch surgery in newborns' cerebral and gastrointestinal hemodynamics: evaluation by Doppler ultrasonography. 62
33827365 2022
15
Transcatheter closure of large perimembranous ventricular septal defects with inlet to outlet extension with the Amplatzer Vascular Plug-II. 62
36468549 2022
16
Incidence, Clinical Features, and Association with Prognosis of Bloodstream Infection in Pediatric Patients After Percutaneous or Surgical Treatment for Ventricular Septal Defect or Atrial Septal Defect: A Retrospective Cohort Study. 62
36242740 2022
17
A fully degradable transcatheter ventricular septal defect occluder: Towards rapid occlusion and post-regeneration absorption. 62
36401954 2022
18
Ventricular septal defect and aortic hypoplasia in congenital cytomegalovirus infection: occasional finding or underdetected correlation? 62
33910458 2022
19
Severe Restriction of a VSD and Development of Pulmonary Atresia in a Patient with Transposition of the Great Arteries: Fetal Diagnosis. 62
35767020 2022
20
Contemporary outcomes of the double switch operation for congenitally corrected transposition of the great arteries. 62
35688715 2022
21
Aortic-to-Right Ventricle Shunting for Rare Cardiovascular Conditions. 62
35231433 2022
22
Predictors of pulmonary hypertension among children with atrial septal defects (ASD). 62
34813403 2022
23
Impact of liver dysfunction on outcomes in children with Alagille syndrome undergoing congenital heart surgery. 62
36458925 2022
24
Bilateral branch pulmonary arterial reconstruction in the Alagille syndrome: The technique and its pitfalls. 62
36458898 2022
25
Status of adult outpatients with congenital heart disease in Japan: The Japanese Network of Cardiovascular Departments for Adult Congenital Heart Disease Registry. 62
35995687 2022
26
Hypogenetic right lung with partial anomalous pulmonary venous return (PAPVR) and accessory diaphragm: a case of "Scimitar Lung". 62
36472398 2022
27
A rare case of isolated single coronary artery, Lipton's type LIIB diagnosed by computed tomography coronary angiography. 62
36204404 2022
28
A rare combination of pulmonary atresia with ventricular septal defect and congenital aortic stenosis with rheumatic mitral disease in an adolescent. 62
33840041 2022
29
Prenatal diagnosis of major aortopulmonary collateral arteries (MAPCA) in fetuses with pulmonary atresia with ventricular septal defect and agenesis of ductus arteriosus. 62
33525939 2022
30
Computed tomography in tetralogy of Fallot: pre- and postoperative imaging evaluation. 62
34427695 2022
31
Routine Perioperative Esmolol After Infant Tetralogy of Fallot Repair: Single-Center Retrospective Study of Hemodynamics. 62
36200768 2022
32
An exceptional survival in an unoperated tetralogy of Fallot in a 66-year-old man: A case report. 62
36281282 2022
33
Eisenmenger Syndrome Among Children with Unrepaired Congenital Heart Defects in Yunnan, China. 62
35522268 2022
34
Prenatal diagnosis of isolated perimembranous ventricular septal defects undergoing primary surgical repair in infancy. 62
34139939 2022
35
Impact of Hospital Volume on Outcomes of Septal Myectomy for Hypertrophic Cardiomyopathy. 62
35779600 2022
36
Current outcomes of live-born children with double outlet right ventricle in Norway. 62
36472441 2022
37
Prenatal Diagnosis and Postnatal Outcome of Eight Cases with Criss-Cross Heart - A Multicenter Case Series. 62
32674186 2022
38
A patient with mosaic USP9X gene variant. 62
36216272 2022
39
Contemporary Outcomes After Pulmonary Artery Banding in Complete Atrioventricular Septal Defect. 62
35405104 2022
40
A Case of Scrotoschisis with Exteriorization of Both Testes. 62
35037819 2022
41
Traumatic atrial septal defect diagnosed by bedside point-of-care ultrasound. 62
36193272 2022
42
A Novel Splicing Mutation c.335-1 G > A in the Cardiac Transcription Factor NKX2-5 Leads to Familial Atrial Septal Defect Through miR-19 and PYK2. 62
35778654 2022
43
Haemodynamic left-ventricular changes during dobutamine stress in patients with atrial septal defect assessed with magnetic resonance imaging-based pressure-volume loops. 62
35838181 2022
44
Novel technique for transcatheter closure of sinus venosus atrial septal defect: The temporary suture-holding technique. 62
36183408 2022
45
Cosmetic and shoulder functional outcomes in posterolateral minithoracotomy atrial septal defect closure: A retrospective study. 62
36335627 2022
46
Giant Right Coronary Artery Pseudoaneurysm Exclusion With Atrial Septal Defect Closure Device Following Coronary Rupture. 62
36423987 2022
47
Transcatheter versus surgical closure of atrial septal defect in adult patients with tricuspid regurgitation. 62
35906027 2022
48
Atrial septal defect with a rare occupying lesion in heart. 62
36371149 2022
49
Uncommon variant of total anomalous pulmonary venous drainage in an infant with sudden death: a case report and review of the literature. 62
36401781 2022
50
MeVisLab-OpenVR prototyping platform for virtual reality medical applications. 62
35674999 2022
Sources

Variations for Heart Septal Defect

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Copy number variations for Heart Septal Defect from CNVD:

6 (show all 28)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 161575 22 19405375 20797502 Deletion AIFM3 cardiac septal defect
2 161576 22 19405375 20797502 Deletion CCDC116 cardiac septal defect
3 161577 22 19405375 20797502 Deletion CRKL cardiac septal defect
4 161578 22 19405375 20797502 Deletion cardiac septal defect
5 161579 22 19405375 20797502 Deletion cardiac septal defect
6 161580 22 19405375 20797502 Deletion HIC2 cardiac septal defect
7 161581 22 19405375 20797502 Deletion cardiac septal defect
8 161582 22 19405375 20797502 Deletion cardiac septal defect
9 161583 22 19405375 20797502 Deletion cardiac septal defect
10 161584 22 19405375 20797502 Deletion LZTR1 cardiac septal defect
11 161585 22 19405375 20797502 Deletion MAPK1 cardiac septal defect
12 161586 22 19405375 20797502 Deletion cardiac septal defect
13 161587 22 19405375 20797502 Deletion P2RX6 cardiac septal defect
14 161588 22 19405375 20797502 Deletion cardiac septal defect
15 161589 22 19405375 20797502 Deletion PPIL2 cardiac septal defect
16 161590 22 19405375 20797502 Deletion PPM1F cardiac septal defect
17 161591 22 19405375 20797502 Deletion cardiac septal defect
18 161592 22 19405375 20797502 Deletion cardiac septal defect
19 161593 22 19405375 20797502 Deletion SDF2L1 cardiac septal defect
20 161594 22 19405375 20797502 Deletion SERPIND1 cardiac septal defect
21 161595 22 19405375 20797502 Deletion SLC7A4 cardiac septal defect
22 161596 22 19405375 20797502 Deletion SNAP29 cardiac septal defect
23 161597 22 19405375 20797502 Deletion THAP7 cardiac septal defect
24 161598 22 19405375 20797502 Deletion TOP3B cardiac septal defect
25 161599 22 19405375 20797502 Deletion UBE2L3 cardiac septal defect
26 161600 22 19405375 20797502 Deletion YPEL1 cardiac septal defect
27 161601 22 19405375 20797502 Deletion MIR130B cardiac septal defect
28 161602 22 19405375 20797502 Deletion MIR301B cardiac septal defect
Sources

Expression for Heart Septal Defect

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

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Human Embryonic Stem Cell Pluripotency 64
Show member pathways
 12.26 TBX5 NKX2-5 MEF2C GATA4
2
22q11.2 copy number variation syndrome 74
11.85 TBX1 PRODH NKX2-5 HAND2
3
Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers 65
11.68 TBX5 NKX2-5 MEF2C ISL1 GATA4
4
Mesenchymal Stem Cells and Lineage-specific Markers 65
11.65 TBX5 NKX2-5 MEF2C GATA4
5
Cell differentiation - expanded index 74
Show member pathways
 11.55 MIR199A1 MIR17 MEF2C
6
Transcriptional Regulatory Network in Embryonic Stem Cell 64
11.33 ZFHX3 MEF2C ISL1 GATA4
7
Cardiac progenitor differentiation 74
11.22 TBX5 TBX20 NKX2-5 MYH6 MEF2C ISL1
8
Heart development 74
10.9 TBX5 TBX20 TBX1 NKX2-5 MEF2C ISL1
9
Cardiomyocyte Differentiation through BMP Receptors 64
10.84 GATA4 MEF2C NKX2-5
10
YAP1- and WWTR1 (TAZ)-stimulated gene expression 66
10.61 TBX5 NKX2-5 GATA4
11
SRF and miRs in smooth muscle differentiation and proliferation 74
10.54 NKX2-5 MEF2C
12
HOP Signaling 64
10.23 NKX2-5 GATA4
Sources

GO Terms for Heart Septal Defect

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

# Name GO ID Score Top Affiliating Genes
1 RISC complex GO:0016442 9.93 MIR590 MIR499A MIR423 MIR199A1 MIR17 MIR15B
2 transcription regulator complex GO:0005667 9.61 ZFHX3 TBX5 NKX2-5 ISL1 HAND2
3 chromatin GO:0000785 9.58 ZFHX3 TBX5 TBX20 TBX1 NKX2-5 MEF2C

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

(show all 40)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.57 ZFHX3 TBX5 TBX20 TBX1 NKX2-5 MEF2C
2 miRNA-mediated gene silencing GO:0035195 10.46 MIR590 MIR499A MIR423 MIR199A1 MIR17 MIR15B
3 positive regulation of DNA-templated transcription GO:0045893 10.42 ZFHX3 TBX5 TBX20 TBX1 NKX2-5 MEF2C
4 regulation of DNA-templated transcription GO:0006355 10.35 GATA4 HAND2 ISL1 MEF2C NKX2-5 TBX1
5 cell fate specification GO:0001708 10.1 TBX1 TBX20 TBX5
6 aortic valve morphogenesis GO:0003180 10.09 TBX20 NKX2-5 GATA4
7 negative regulation of inflammatory response GO:0050728 10.04 MIR590 MIR199A1 MIR15B ISL1
8 pharyngeal system development GO:0060037 10.03 TBX1 NKX2-5 ISL1
9 heart development GO:0007507 10.03 GATA4 HAND2 ISL1 MEF2C NKX2-5 TBX1
10 heart looping GO:0001947 10.02 TBX20 NKX2-5 MEF2C HAND2 GATA4
11 cardiac right ventricle morphogenesis GO:0003215 9.99 GATA4 ISL1 TBX20
12 coronary artery morphogenesis GO:0060982 9.97 TBX1 HAND2
13 adult heart development GO:0007512 9.97 HAND2 MYH6 NKX2-5
14 outflow tract septum morphogenesis GO:0003148 9.97 TBX20 TBX1 NKX2-5 ISL1
15 atrioventricular node development GO:0003162 9.96 GATA4 NKX2-5
16 positive regulation of myoblast differentiation GO:0045663 9.96 ZFHX3 MIR199A1 MEF2C
17 cardiac ventricle formation GO:0003211 9.95 NKX2-5 MEF2C
18 heart morphogenesis GO:0003007 9.95 TBX1 NKX2-5 ISL1 HAND2
19 negative regulation of cardiac muscle cell apoptotic process GO:0010667 9.95 GATA4 HAND2 MIR199A1 NKX2-5
20 atrioventricular node cell development GO:0060928 9.94 TBX5 NKX2-5
21 regulation of secondary heart field cardioblast proliferation GO:0003266 9.93 ISL1 HAND2
22 bundle of His development GO:0003166 9.93 TBX5 NKX2-5
23 endocardial cushion development GO:0003197 9.93 TBX5 GATA4 CRELD1
24 apoptotic process involved in heart morphogenesis GO:0003278 9.91 HAND2 NKX2-5
25 positive regulation of cardioblast differentiation GO:0051891 9.91 TBX5 NKX2-5 GATA4
26 visceral motor neuron differentiation GO:0021524 9.9 ISL1 TBX20
27 cardiac muscle cell differentiation GO:0055007 9.89 TBX5 NKX2-5 GATA4
28 atrioventricular node cell fate commitment GO:0060929 9.88 TBX5 NKX2-5
29 cardiac ventricle morphogenesis GO:0003208 9.85 NKX2-5 GATA4
30 cell growth involved in cardiac muscle cell development GO:0061049 9.85 MIR199A1 GATA4
31 positive regulation of cardiac muscle cell differentiation GO:2000727 9.85 MIR499A MEF2C
32 regulation of cardiac muscle cell proliferation GO:0060043 9.83 MIR199A1 NKX2-5
33 miRNA-mediated gene silencing by inhibition of translation GO:0035278 9.83 MIR590 MIR499A MIR17 MIR15B
34 positive regulation of cardiac muscle cell proliferation GO:0060045 9.76 TBX5 TBX20 MIR590 MIR199A1 MEF2C
35 negative regulation of vascular endothelial growth factor production GO:1904046 9.72 MIR199A1 MIR17 MIR15B
36 positive regulation of connective tissue replacement GO:1905205 9.67 MIR199A1 MIR15B
37 positive regulation of cardiac muscle hypertrophy in response to stress GO:1903244 9.65 MIR199A1 MIR17
38 outflow tract morphogenesis GO:0003151 9.61 TBX20 TBX1 NKX2-5 MIR17 MEF2C ISL1
39 positive regulation of cardiac muscle tissue regeneration GO:1905180 9.54 MIR590 MIR199A1
40 atrial septum morphogenesis GO:0060413 9.32 TBX5 TBX20 NKX2-5 ISL1 GATA4

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 10.36 GATA4 HAND2 ISL1 MEF2C NKX2-5 TBX1
2 sequence-specific double-stranded DNA binding GO:1990837 10.17 GATA4 HAND2 ISL1 MEF2C NKX2-5 TBX1
3 sequence-specific DNA binding GO:0043565 10.07 TBX5 TBX1 NKX2-5 ISL1 HAND2 GATA4
4 DNA-binding transcription factor activity GO:0003700 10.07 ZFHX3 TBX5 TBX20 TBX1 NKX2-5 MEF2C
5 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 10 GATA4 HAND2 ISL1 MEF2C NKX2-5 TBX20
6 minor groove of adenine-thymine-rich DNA binding GO:0003680 9.76 MEF2C HAND2
7 mRNA 3'-UTR binding GO:0003730 9.73 MIR499A MIR199A1 MIR17 MIR15B
8 RNA polymerase II-specific DNA-binding transcription factor binding GO:0061629 9.47 TBX5 TBX20 NKX2-5 MEF2C ISL1 HAND2
9 mRNA base-pairing translational repressor activity GO:1903231 9.43 MIR590 MIR499A MIR423 MIR199A1 MIR17 MIR15B
Sources

Sources for Heart Septal Defect

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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