MCID: HRT011
MIFTS: 49

Heart Septal Defect

Categories: Cardiovascular diseases

Aliases & Classifications for Heart Septal Defect

MalaCards integrated aliases for Heart Septal Defect:

Name: Heart Septal Defect 12 15
Heart Septal Defects 44 70
Septal Defect 12 54
Congenital Septal Defect of Heart 12
Cardiac Septal Defects 12

Classifications:



External Ids:

Disease Ontology 12 DOID:1681
MeSH 44 D006343
NCIt 50 C84482
SNOMED-CT 67 204290008
ICD10 32 Q21.9
UMLS 70 C0018816

Summaries for Heart Septal Defect

MalaCards based summary : Heart Septal Defect, also known as heart septal defects, is related to atrial septal defect 2 and congenital heart defects, multiple types, 4. An important gene associated with Heart Septal Defect is NKX2-5 (NK2 Homeobox 5), and among its related pathways/superpathways are MicroRNAs in cancer and Human Embryonic Stem Cell Pluripotency. The drugs Clopidogrel and Aspirin have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and liver, and related phenotypes are cardiovascular system and embryo

Related Diseases for Heart Septal Defect

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

(show top 50) (show all 836)
# Related Disease Score Top Affiliating Genes
1 atrial septal defect 2 33.0 TBX5 TBX20 NKX2-5 GATA4
2 congenital heart defects, multiple types, 4 33.0 GATA4 CRELD1
3 atrial septal defect 9 32.9 PRODH CFAP47
4 right atrial isomerism 32.5 TBX5 TBX20 NKX2-5 GJA5
5 partial atrioventricular canal 32.5 GATA4 CRELD1
6 interatrial communication 32.4 TBX5 TBX20 NKX2-5 MYH6 GATA4
7 tricuspid atresia 32.4 ZFPM2 TBX5 TBX20 TBX1 PRODH NKX2-5
8 conotruncal heart malformations 32.4 ZFPM2 TBX1 NKX2-5
9 hypoplastic right heart syndrome 32.3 TBX5 TBX20 NKX2-5 HAND2
10 tetralogy of fallot 32.3 ZFPM2 TBX5 TBX20 TBX1 PRODH NKX2-5
11 atrial heart septal defect 32.2 ZFPM2 TBX5 TBX20 TBX1 RNU4ATAC PRODH
12 ventricular septal defect 32.2 ZFPM2 TBX5 NKX2-5 ISL1 HAND2 GATA4
13 double outlet right ventricle 32.0 ZFPM2 TBX5 TBX20 TBX1 NKX2-5 MYH6
14 dextro-looped transposition of the great arteries 32.0 TBX5 TBX1 NKX2-5 GATA4 CRELD1
15 mitral valve insufficiency 32.0 TBX5 MYH6 MIR423
16 atrioventricular block 32.0 TBX5 NKX2-5 GJA5 GATA4
17 pulmonary valve stenosis 31.6 TBX5 TBX20 NKX2-5 GATA4
18 atrioventricular septal defect 31.6 ZFPM2 TBX5 TBX20 TBX1 NKX2-5 MYH6
19 hypoplastic left heart syndrome 31.6 ZFPM2 TBX5 TBX20 TBX1 NKX2-5 MYH6
20 myocardial infarction 31.4 MYH6 MIR499A MIR423 MIR199A1 MIR17 MEF2C
21 sick sinus syndrome 31.4 MYH6 MIR423 GJA5
22 sinoatrial node disease 31.2 TBX5 NKX2-5 MYH6 GJA5
23 total anomalous pulmonary venous return 1 31.1 TBX5 NKX2-5 GATA4 CRELD1
24 hypertrophic cardiomyopathy 31.1 NKX2-5 MYH6 MIR499A MEF2C GJA5 GATA4
25 aortic valve disease 2 31.1 TBX5 NKX2-5 MYH6 MIR423 MIR199A1 MIR17
26 arteries, anomalies of 31.0 MIR499A MIR423 MIR199A1 MIR17
27 wolff-parkinson-white syndrome 31.0 TBX20 NKX2-5 MYH6
28 left ventricular noncompaction 30.8 TBX5 TBX20 NKX2-5 MYH6 GJA5 GATA4
29 heart valve disease 30.8 NKX2-5 MYH6 MIR499A MIR423 MIR199A1 MIR17
30 ebstein anomaly 30.7 ZFPM2 TBX5 TBX20 TBX1 NKX2-5 MYH6
31 diaphragmatic hernia, congenital 30.6 ZFPM2 TBX5 GATA4
32 aortic valve disease 1 30.5 TBX5 TBX20 TBX1 NKX2-5 MYH6 MIR199A1
33 digeorge syndrome 30.5 TBX5 TBX20 TBX1 PRODH NKX2-5 MIR423
34 velocardiofacial syndrome 30.5 TBX5 TBX20 TBX1 PRODH NKX2-5 GATA4
35 dilated cardiomyopathy 30.5 TBX5 TBX20 NKX2-5 MYH6 MIR499A MIR199A1
36 lipoprotein quantitative trait locus 30.4 ZFPM2 TBX5 TBX20 NKX2-5 MYH6 MIR499A
37 pulmonary valve disease 30.4 TBX5 NKX2-5 GATA4
38 speech disorder 30.3 PRODH NKX2-5 CFAP47
39 alcohol use disorder 30.2 PRODH MIR199A1 GATA4
40 chromosomal disease 30.2 TBX1 PRODH MIR17 DGCR5 CFAP47
41 brugada syndrome 30.2 TBX5 NKX2-5 MYH6 GJA5
42 connective tissue disease 30.1 RNU4ATAC PRODH MIR423 MIR199A1 MIR17
43 holt-oram syndrome 30.1 TBX5 TBX20 TBX1 NKX2-5 MYH6 MEF2C
44 patent ductus arteriosus 1 30.0 ZFPM2 TBX5 TBX20 TBX1 PRODH NKX2-5
45 patent foramen ovale 30.0 ZFPM2 TBX5 TBX20 TBX1 NKX2-5 MYH6
46 disease of mental health 29.8 TBX1 RNU4ATAC PRODH MIR423 MIR199A1 MIR17
47 heart disease 29.7 TBX5 TBX20 TBX1 PRODH NKX2-5 MYH6
48 pulmonary atresia with ventricular septal defect 11.7
49 tarp syndrome 11.7
50 atrioventricular septal defect 2 11.7

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



Diseases related to Heart Septal Defect

Symptoms & Phenotypes for Heart Septal Defect

MGI Mouse Phenotypes related to Heart Septal Defect:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.23 CRELD1 GATA4 GJA5 HAND2 ISL1 MEF2C
2 embryo MP:0005380 10.02 CRELD1 GATA4 HAND2 ISL1 MEF2C NKX2-5
3 muscle MP:0005369 10 GATA4 GJA5 HAND2 ISL1 MEF2C MYH6
4 craniofacial MP:0005382 9.98 CRELD1 HAND2 ISL1 MEF2C NKX2-5 TBX1
5 digestive/alimentary MP:0005381 9.95 GATA4 GJA5 HAND2 ISL1 MEF2C NKX2-5
6 limbs/digits/tail MP:0005371 9.87 GATA4 HAND2 ISL1 MEF2C PRODH TBX1
7 no phenotypic analysis MP:0003012 9.7 GATA4 GJA5 HAND2 ISL1 NKX2-5 TBX20
8 normal MP:0002873 9.65 GATA4 GJA5 HAND2 ISL1 MEF2C NKX2-5
9 respiratory system MP:0005388 9.23 GATA4 GJA5 MEF2C MYH6 NKX2-5 PRODH

Drugs & Therapeutics for Heart Septal Defect

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

(show top 50) (show all 76)
# 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
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
4
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
5
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
6
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
7
Racepinephrine Approved Phase 4 329-65-7 838
8
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
9
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
10 Analgesics Phase 4
11 Anesthetics, Intravenous Phase 4
12 Anesthetics, General Phase 4
13 Adrenergic beta-Agonists Phase 4
14 Anti-Asthmatic Agents Phase 4
15 Respiratory System Agents Phase 4
16 Neurotransmitter Agents Phase 4
17 Adrenergic Agents Phase 4
18 Albuterol Phase 4
19 Tocolytic Agents Phase 4
20 Bronchodilator Agents Phase 4
21 Adrenergic Agonists Phase 4
22 Purinergic P2Y Receptor Antagonists Phase 4
23 Platelet Aggregation Inhibitors Phase 4
24 Excitatory Amino Acid Antagonists Phase 4
25 Anesthetics, Dissociative Phase 4
26 Adrenergic alpha-Agonists Phase 4
27 Hypnotics and Sedatives Phase 4
28 Analgesics, Non-Narcotic Phase 4
29 Anesthetics Phase 4
30 Pharmaceutical Solutions Phase 4
31 Epinephryl borate Phase 4
32 Carticaine Phase 4
33 Anesthetics, Local Phase 4
34
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
35
Enalaprilat Approved Phase 3 76420-72-9 6917719
36
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
37 Endothelin Receptor Antagonists Phase 3
38 Antihypertensive Agents Phase 3
39 Angiotensin-Converting Enzyme Inhibitors Phase 3
40
protease inhibitors Phase 3
41 HIV Protease Inhibitors Phase 3
42
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 2 437-38-7 3345
43
Sodium citrate Approved, Investigational Phase 2 68-04-2
44
Milrinone Approved Phase 1, Phase 2 78415-72-2 4197
45
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
46 Narcotics Phase 2
47 Analgesics, Opioid Phase 2
48 Anticoagulants Phase 2
49 Dextrans Phase 2
50 Plasma Substitutes Phase 2

Interventional clinical trials:

(show top 50) (show all 102)
# 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 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) )
3 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
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 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
9 Infant Heart Surgery: Central Nervous System Sequelae of Circulatory Arrest Completed NCT00000470 Phase 3
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 The Pharmacology of Dexmedetomidine in Children With Congenital Heart Disease Completed NCT00480740 Phase 3 Dexmedetomidine
13 Iatrogenic Atrial Septal Defect Study Recruiting NCT04395027 Phase 3
14 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.
15 Trial of ACE Inhibition in Children With Mitral Regurgitation After Repair of AVSD Terminated NCT00113698 Phase 3 Enalapril
16 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
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 Use of Ketamine Prior to Cardiopulmonary Bypass in Children Completed NCT00556361 Phase 2 saline;ketamine
19 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
20 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
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) Recruiting NCT04017975 Phase 2 Fluorescite
23 Closure of Perimembranous Ventricular Septal Defects With The AMPLATZER® Membranous VSD OCCLUDER Completed NCT00578708 Phase 1
24 Utilization of Confocal Microscopy During Cardiac Surgery Completed NCT03189134 Phase 1 Fluorescite
25 A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics Completed NCT01915277 Phase 1 Dexmedetomidine
26 Radiation-Free Heart Catheterization Using MRI Recruiting NCT02739087 Phase 1
27 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
28 Aortic Regurgitation After Surgical Repair of Outlet-Type Ventricular Septal Defect Unknown status NCT00173186
29 Study of Energy Expenditure in Infants With Ventricular Septal Defects Unknown status NCT00006272
30 International Registry for Secundum Atrial Septal Defects Closure by Using the Occlutech®Flex II Device in More Than 2000 Patients Unknown status NCT02766569
31 Changes in Ventricular Remodeling and Exercise Cardiopulmonary Function After Transcatheter Closure of Ventricular Septal Defect Unknown status NCT03127748
32 The Effect of the Iatrogenic Atrial Septal Defect After MitraClip Procedure on the Hemodynamic Outcome Unknown status NCT02453451
33 Occluder Size Determination in Transcatheter Closure of Ostium Secundum Atrial Septal Defect Based on Three-Dimensional Echocardiography Assessment Unknown status NCT02601768
34 A Multicentre, Randomized Controlled Study of Blood Clotting After Transcatheter Atrial Septal Defect Closure Unknown status NCT01086046 Low molecular weight heparin
35 A Prospective, Multi-center Study to Evaluate the Safety and Performance of the Hyperion™ ASD and PDA Closure Systems. Unknown status NCT02220270
36 Random, Controlled, Single-blinded, Multi-center and Non-inferiority Clinical Study to Evaluate Safety and Effectiveness of XenoSure Biological Patch in the Application of Cardiac Repair Unknown status NCT03176225
37 "Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects" (CARDIoG) Unknown status NCT02503267
38 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
39 Shunt Quantification in Atrial Septal Defect Using Inert Gas Rebreathing and Thoracic Bioimpedance: Comparison With the Gold Standard Method Unknown status NCT03437148
40 TEE-guided Perventricular Device Closure Through Minithoracotomy vs Traditional Surgery Repair Via CBP in Treatment of Infundibular Ventricular Septal Defect:A Two-center Clinical Randomized Controlled Trial Completed NCT02361008
41 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
42 Closure of Muscular Ventricular Septal Defects With The AMPLATZER™ Muscular VSD Occluder Completed NCT00583791
43 Genes Causing Congenital Ebstein's Anomaly Completed NCT00497705
44 Prospective, Monocentric Study for the Evaluation of Latent Pulmonary Arterial Hypertension in Patients With Congenital Shunt Lesions Lost to Follow-up. Completed NCT02552485
45 Precision Assessment of Perioperative Effectiveness and Safety of Transthoracic Minimally Invasive Hybrid Closure for Pediatric Ventricular Septal Defects Completed NCT02794584 sufentanil anesthesia
46 Femoral Allogenic Vein Valved Conduit for Palliative Repair of Pulmonary Atresia With Ventricular Septal Defect Completed NCT02861963
47 Imaging of Atrial Septal Defects by Velocity Encoded Cardiovascular Magnetic Resonance Completed NCT00498446
48 Atrial Septal Defect - Exercise Capacity and Pulmonary Hypertension Completed NCT03565471
49 Cardiopulmonary Function in Adults Born With a Ventricular Septal Defect Completed NCT03684161
50 GORE® HELEX® Septal Occluder Post-Approval Study Completed NCT00581308

Search NIH Clinical Center for Heart Septal Defect

Cochrane evidence based reviews: heart septal defects

Genetic Tests for Heart Septal Defect

Anatomical Context for Heart Septal Defect

MalaCards organs/tissues related to Heart Septal Defect:

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

Publications for Heart Septal Defect

Articles related to Heart Septal Defect:

(show top 50) (show all 20723)
# Title Authors PMID Year
1
GATA4 sequence variants in patients with congenital heart disease. 54 61
18055909 2007
2
Spectrum of heart disease associated with murine and human GATA4 mutation. 54 61
17643447 2007
3
A novel closure device for atrial septal defect: Much more to learn and experience. 61
33529667 2021
4
Potential Impact of Right Atrial Pressure on Acute Predominant Right-to-Left Shunt Across an Iatrogenic Atrial Septal Defect After MitraClip Procedure. 61
32493664 2021
5
Prenatal diagnosis of aortic arch anomalies: Echocardiography, 3D-ultrasonography, and computed tomography angiogram findings. A case-report. 61
33037630 2021
6
Pulmonary artery banding in patients with functional single ventricle associated with pulmonary hypertension. 61
33541150 2021
7
Hirudotherapy for neonatal limb ischemia during ECMO support: A word of caution. 61
33811665 2021
8
Feasibility of robotic-assisted atrial septal defect repair in a 6-year-old patient. 61
33085979 2021
9
Technical Performance Score's Association With Arterial Switch Operation Outcomes. 61
32603709 2021
10
Cardiac erosion causing an aortic dissection after a catheter closure of an atrial septal defect: first late erosion case with the Figulla Flex II septal occluder. 61
32248357 2021
11
Multimodality Evaluation of a Septal Cystic Cavity and Ventricular Septal Defect in the Setting of Neurocysticercosis and Endocarditis. 61
33794648 2021
12
Transthoracic Device Closure, Transcatheter Device Closure, and Surgical Repair via Right Submammary Thoracotomy for Restrictive Ventricular Septal Defect, a Respective Comparative Study. 61
31366250 2021
13
Assessment of long-term cardiac adaptation in adult patients with type II atrial septal defect : A cardiovascular magnetic resonance (CMR) study. 61
33037912 2021
14
Remifentanil-based fast-track cardiac anesthesia combined with the postoperative serratus anterior plane block for transthoracic device closure of atrial septal defect in pediatric patients. 61
33811664 2021
15
Percutaneous closure of residual atrial septal defect after surgical closure. 61
32406034 2021
16
Long-Term Survival and Causes of Death in Children with Trisomy 21 After Congenital Heart Surgery. 61
33359302 2021
17
Supravalvar aortic stenosis: Imaging characteristics and associations on multidetector computed tomography angiography. 61
33590497 2021
18
A Case Report of Donnai-Barrow Syndrome. 61
32657950 2021
19
Automated interpretation of congenital heart disease from multi-view echocardiograms. 61
33418465 2021
20
Upper mini sternotomy approach for pulmonary artery banding: A single centre experience. 61
33797797 2021
21
Edge to edge repair using a MitraClip for severe tricuspid valve regurgitation after a Mustard operation. 61
33793055 2021
22
Use of a cutting stapler to excise a left atrial appendage in minimally invasive cardiac surgery. 61
32770364 2021
23
Exposure to air pollutants and risk of congenital anomalies: A systematic review and metaanalysis. 61
33183823 2021
24
Preoperative level of neutrophil-lymphocyte ratio: Comparison between cyanotic and acyanotic congenital heart disease. 61
33567123 2021
25
Trans-ventricular catheter device-based closure of postmyocardial infarction ventricular septal defect following coronary artery bypass grafting: A staged hybrid approach. 61
33502796 2021
26
Erysipelothrix rhusiopathiae Endocarditis in a Patient With Severe Unicuspid Aortic Valve Damage Complicated With Acquired Ventricular Septal Defect. 61
32920167 2021
27
Percutaneous pulmonary artery debanding. 61
33279375 2021
28
The prevalence of non-syndromic orofacial clefts and associated congenital heart diseases of a tertiary hospital in Riyadh, Saudi Arabia. 61
33679106 2021
29
Tricuspid valve detachment for ventricular septal defect closure in infants <5 kg: should we be hesitant? 61
33787866 2021
30
Comparison of half-turned truncal switch and conventional operations. 61
33667315 2021
31
Procedural and short-term outcomes of transcatheter closure of ventricular septal defect using lifetech multifunctional occluder: initial experience. 61
33292894 2021
32
Minimally invasive closure of transthoracic ventricular septal defect: postoperative complications and risk factors. 61
33741014 2021
33
Use of Mullins sheath to prevent prolapse of Gore Cardioform ASD Occluder in a child with severe scoliosis. 61
33261692 2021
34
Percutaneous closure of iatrogenic VSD and paravalvular leak: Two complications of TAVR. 61
33773926 2021
35
Hybrid Subxiphoid Perventricular Approach as an Alternative Access in Neonates and Small Children Undergoing Complex Congenital Heart Interventions. 61
33263794 2021
36
Abnormal Left-Hemispheric Sulcal Patterns in Adults With Simple Congenital Heart Defects Repaired in Childhood. 61
33745293 2021
37
Pitfalls in surgical repair of Fallot's tetralogy: The "ventricular subaortic pouch". 61
33682967 2021
38
Spectrum of postmortem autopsy findings in native and surgically corrected hearts with congenital malformations: a 10-year single-center experience. 61
33189923 2021
39
Long-term results of tricuspid reconstruction with pericardium in an infant. 61
32926389 2021
40
Development of a biventricular conversion program: A new paradigm. 61
33783014 2021
41
Prenatal Diagnosis of Double Aortic Arch: Associated Findings and Postnatal Clinical Outcomes. 61
33656187 2021
42
Single collateral artery from descending thoracic aorta supplying pulmonary circulation-Computed tomography and echocardiographic images. 61
33599343 2021
43
3D/4D spatiotemporal image correlation (STIC) fetal echocardiography provides incremental benefit over 2D fetal echocardiography in predicting postnatal surgical approach in double-outlet right ventricle. 61
32022380 2021
44
Postinfarction posterobasal ventricular septal defect closure with a triple-layer patch. 61
33691048 2021
45
De novo c.2455C>T mutation of NPR2 gene in a fetus with shortened long bones and a ventricular septal defect conceived by a mother with a fragile site at 16q22.1 and a father with a rare heterochromatic variant of chromosome 4 from Vietnam. 61
33713577 2021
46
The Application and Teaching Value of a Ventricular Septal Defect Canine Model Established by Transcatheter Puncture. 61
33731523 2021
47
The effect of music therapy on chronic pain, quality of life and quality of sleep in adolescents after transthoracic occlusion of ventricular septal defect. 61
33798055 2021
48
Apical muscular ventricular septal defect closure via hybrid approach using a right ventricular stay suture. 61
33197132 2021
49
Half-Turned Truncal Switch Surgery for Dextro-Transposition of Great Arteries With Ventricular Septal Defect and Pulmonary Stenosis: Role of Intraoperative Echocardiography. 61
33684088 2021
50
Prenatal diagnosis of partial absence of the tricuspid valve with perimembranous ventricular septal defect-The utility of prenatal 4-dimensional spatiotemporal image correlation rendering. 61
33619790 2021

Variations for Heart Septal Defect

Copy number variations for Heart Septal Defect from CNVD:

7 (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

Expression for Heart Septal Defect

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

Pathways for Heart Septal Defect

GO Terms for Heart Septal Defect

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

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.28 ZFPM2 TBX5 TBX20 TBX1 NKX2-5 MEF2C

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

(show all 39)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.24 ZFPM2 TBX5 TBX20 TBX1 NKX2-5 MEF2C
2 regulation of transcription, DNA-templated GO:0006355 10.22 TBX5 TBX20 TBX1 NKX2-5 MEF2C ISL1
3 multicellular organism development GO:0007275 10.17 TBX5 TBX20 TBX1 NKX2-5 MEF2C ISL1
4 positive regulation of transcription by RNA polymerase II GO:0045944 10.13 ZFPM2 TBX5 TBX20 TBX1 NKX2-5 MEF2C
5 positive regulation of transcription, DNA-templated GO:0045893 10.06 ZFPM2 TBX5 TBX20 TBX1 NKX2-5 MEF2C
6 vasculogenesis GO:0001570 9.81 ZFPM2 TBX20 NKX2-5
7 heart morphogenesis GO:0003007 9.81 TBX1 NKX2-5 ISL1 HAND2
8 ventricular septum development GO:0003281 9.79 TBX5 GJA5 GATA4
9 cell fate specification GO:0001708 9.78 TBX5 TBX20 TBX1
10 aortic valve morphogenesis GO:0003180 9.77 TBX20 NKX2-5 GATA4
11 heart looping GO:0001947 9.77 TBX20 NKX2-5 MEF2C HAND2 GATA4
12 heart development GO:0007507 9.76 ZFPM2 TBX5 TBX1 NKX2-5 MEF2C ISL1
13 cardiac muscle cell differentiation GO:0055007 9.73 TBX5 NKX2-5 GATA4
14 negative regulation of cardiac muscle cell apoptotic process GO:0010667 9.73 NKX2-5 MIR199A1 HAND2 GATA4
15 pharyngeal system development GO:0060037 9.72 TBX1 NKX2-5 ISL1
16 positive regulation of cardiac muscle cell proliferation GO:0060045 9.72 ZFPM2 TBX5 TBX20 MIR199A1 MEF2C
17 cardiac right ventricle morphogenesis GO:0003215 9.71 TBX20 ISL1 GATA4
18 adult heart development GO:0007512 9.7 NKX2-5 MYH6 HAND2
19 endocardial cushion morphogenesis GO:0003203 9.68 TBX20 ISL1
20 embryonic heart tube development GO:0035050 9.68 TBX20 NKX2-5
21 negative regulation of low-density lipoprotein particle clearance GO:0010989 9.67 MIR199A1 MIR17
22 cell growth involved in cardiac muscle cell development GO:0061049 9.67 MIR199A1 GATA4
23 cardiac septum development GO:0003279 9.67 TBX20 CRELD1
24 endocardial cushion development GO:0003197 9.67 TBX5 GATA4 CRELD1
25 positive regulation of cardiac muscle cell differentiation GO:2000727 9.66 MIR499A MEF2C
26 positive regulation of cardiac muscle hypertrophy in response to stress GO:1903244 9.66 MIR199A1 MIR17
27 cardiac muscle tissue morphogenesis GO:0055008 9.65 TBX20 NKX2-5
28 peripheral nervous system neuron development GO:0048935 9.65 ISL1 HAND2
29 secondary heart field specification GO:0003139 9.65 MEF2C ISL1
30 outflow tract septum morphogenesis GO:0003148 9.65 ZFPM2 TBX20 TBX1 NKX2-5 ISL1
31 atrial septum development GO:0003283 9.64 TBX5 GJA5
32 coronary artery morphogenesis GO:0060982 9.64 TBX1 HAND2
33 regulation of secondary heart field cardioblast proliferation GO:0003266 9.62 ISL1 HAND2
34 visceral motor neuron differentiation GO:0021524 9.6 TBX20 ISL1
35 right ventricular cardiac muscle tissue morphogenesis GO:0003221 9.58 ZFPM2 NKX2-5
36 positive regulation of cardioblast differentiation GO:0051891 9.58 TBX5 NKX2-5 GATA4
37 pulmonary valve formation GO:0003193 9.57 TBX20 GJA5
38 outflow tract morphogenesis GO:0003151 9.43 TBX20 TBX1 MIR17 MEF2C ISL1 GJA5
39 atrial septum morphogenesis GO:0060413 9.02 TBX5 TBX20 NKX2-5 ISL1 GATA4

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.13 ZFPM2 TBX5 TBX20 TBX1 NKX2-5 MEF2C
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 10.04 TBX5 TBX20 TBX1 NKX2-5 MEF2C ISL1
3 DNA-binding transcription factor activity GO:0003700 9.88 TBX5 TBX20 TBX1 NKX2-5 MEF2C GATA4
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.86 TBX5 TBX20 TBX1 NKX2-5 MEF2C ISL1
5 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.85 MIR499A MIR423 MIR199A1 MIR17
6 transcription regulatory region sequence-specific DNA binding GO:0000976 9.83 NKX2-5 MEF2C HAND2 GATA4
7 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.83 TBX5 TBX20 MEF2C HAND2 GATA4
8 transcription factor binding GO:0008134 9.77 ZFPM2 TBX5 NKX2-5 HAND2 GATA4
9 RNA polymerase II transcription factor binding GO:0001085 9.63 ZFPM2 TBX20 GATA4
10 sequence-specific DNA binding GO:0043565 9.63 TBX5 TBX1 NKX2-5 ISL1 HAND2 GATA4
11 bacterial-type RNA polymerase transcriptional activator activity, sequence-specific DNA binding GO:0001216 9.54 NKX2-5 GATA4
12 AT DNA binding GO:0003680 9.51 MEF2C HAND2
13 activating transcription factor binding GO:0033613 9.5 MEF2C HAND2 GATA4
14 sequence-specific double-stranded DNA binding GO:1990837 9.5 TBX20 TBX1 NKX2-5 MEF2C ISL1 HAND2
15 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.17 TBX5 TBX20 NKX2-5 MEF2C ISL1 HAND2

Sources for Heart Septal Defect

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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