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 43 71
Septal Defect 12 54
Congenital Septal Defect of Heart 12
Cardiac Septal Defects 12


External Ids:

Disease Ontology 12 DOID:1681
MeSH 43 D006343
NCIt 49 C84482
SNOMED-CT 67 396351009
ICD10 32 Q21.9
UMLS 71 C0018816

Summaries for Heart Septal Defect

MalaCards based summary : Heart Septal Defect, also known as heart septal defects, is related to complete atrioventricular septal defect with ventricular hypoplasia and complete atrioventricular septal defect-tetralogy of fallot. 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 Ketamine and Dexmedetomidine have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and brain, 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 904)
# Related Disease Score Top Affiliating Genes
1 complete atrioventricular septal defect with ventricular hypoplasia 34.8 GATA4 CRELD1
2 complete atrioventricular septal defect-tetralogy of fallot 34.6 GATA4 CRELD1
3 atrial heart septal defect 34.0 ZFPM2 TBX5 TBX20 TBX1 RNU4ATAC PRODH
4 atrial septal defect 2 34.0 TBX20 NKX2-5 GATA4
5 partial atrioventricular canal 33.9 GATA4 CRELD1
6 ventricular septal defect 33.8 ZFPM2 TBX5 PRODH NKX2-5 MIR499A MIR17
7 atrial septal defect 9 33.8 PRODH CFAP47
8 right atrial isomerism 33.4 TBX5 TBX20 NKX2-5 GJA5
9 tricuspid atresia 33.3 ZFPM2 TBX5 TBX20 PRODH NKX2-5 HAND2
10 hypoplastic right heart syndrome 33.2 TBX5 TBX20 NKX2-5 HAND2
11 conotruncal heart malformations 33.2 ZFPM2 TBX1 NKX2-5
12 eisenmenger syndrome 33.1 NKX2-5 GATA4
13 holt-oram syndrome 33.1 TBX5 TBX20 TBX1 NKX2-5 MYH6 MEF2C
14 double outlet right ventricle 32.8 ZFPM2 TBX5 TBX20 TBX1 NKX2-5 MYH6
15 dextro-looped transposition of the great arteries 32.3 TBX5 NKX2-5 GATA4 CRELD1
16 hypoplastic left heart syndrome 32.3 ZFPM2 TBX5 TBX20 TBX1 NKX2-5 MYH6
17 atrioventricular block 32.3 TBX5 NKX2-5 GJA5 GATA4
18 atrioventricular septal defect 32.0 ZFPM2 TBX5 TBX20 TBX1 NKX2-5 MEF2C
19 pulmonary valve stenosis 31.9 TBX5 NKX2-5 GATA4
20 sick sinus syndrome 31.6 MYH6 MIR423 GJA5
21 atrial standstill 1 31.5 MYH6 GJA5 GATA4
22 sinoatrial node disease 31.5 TBX5 NKX2-5 MYH6 GJA5
23 myocardial infarction 31.4 MYH6 MIR499A MIR423 MIR17 MEF2C GATA4
24 total anomalous pulmonary venous return 1 31.3 TBX5 NKX2-5 GATA4 CRELD1
25 aortic valve disease 1 31.2 TBX5 TBX20 TBX1 NKX2-5 MYH6 MIR199A1
26 lipoprotein quantitative trait locus 31.2 TBX1 NKX2-5 MYH6 MIR199A1 GATA4
27 aortic valve disease 2 31.2 TBX5 NKX2-5 MYH6 MIR423 MIR199A1 MIR17
28 hypertrophic cardiomyopathy 31.1 NKX2-5 MYH6 MEF2C GJA5 GATA4
29 arteries, anomalies of 31.1 MIR499A MIR423 MIR199A1 MIR17
30 wolff-parkinson-white syndrome 31.1 TBX5 TBX20 NKX2-5 MYH6 GJA5
31 heart valve disease 31.0 NKX2-5 MYH6 MIR499A MIR423 MIR199A1 MIR17
32 left ventricular noncompaction 31.0 TBX5 TBX20 NKX2-5 MYH6 GJA5 GATA4
33 ebstein anomaly 30.9 ZFPM2 TBX5 TBX20 NKX2-5 MYH6 GJA5
34 mitral valve insufficiency 30.7 TBX5 MYH6 MIR423
35 velocardiofacial syndrome 30.7 TBX1 PRODH DGCR5
36 diaphragmatic hernia, congenital 30.7 ZFPM2 TBX5 GATA4
37 dilated cardiomyopathy 30.6 TBX5 TBX20 NKX2-5 MYH6 MIR499A MIR199A1
38 pulmonary valve disease 30.6 TBX5 NKX2-5 GATA4
39 heart disease 30.5 TBX5 TBX20 TBX1 PRODH NKX2-5 MYH6
40 char syndrome 30.5 TBX5 TBX20 CRELD1
41 jacobsen syndrome 30.5 TBX5 TBX20 NKX2-5 GATA4
42 digeorge syndrome 30.5 TBX5 TBX20 TBX1 PRODH NKX2-5 MIR423
43 ulnar-mammary syndrome 30.5 TBX5 TBX20 TBX1 NKX2-5
44 patent ductus arteriosus 1 30.4 TBX5 TBX20 TBX1 PRODH NKX2-5 MYH6
45 disease of mental health 30.4 RNU4ATAC PRODH MIR199A1 MIR17
46 chromosomal disease 30.3 TBX1 PRODH MIR17 DGCR5 CRELD1
47 connective tissue disease 30.3 RNU4ATAC PRODH MIR423 MIR199A1 MIR17
48 brugada syndrome 30.2 TBX5 NKX2-5 MYH6 GJA5
49 patent foramen ovale 30.1 TBX5 TBX20 TBX1 NKX2-5 MYH6 HAND2
50 tetralogy of fallot 29.8 ZFPM2 TBX5 TBX20 TBX1 PRODH NKX2-5

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:

# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.21 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 digestive/alimentary MP:0005381 9.95 GATA4 GJA5 HAND2 ISL1 MEF2C NKX2-5
5 limbs/digits/tail MP:0005371 9.87 GATA4 HAND2 ISL1 MEF2C PRODH TBX1
6 no phenotypic analysis MP:0003012 9.7 GATA4 GJA5 HAND2 ISL1 NKX2-5 TBX20
7 normal MP:0002873 9.65 GATA4 GJA5 HAND2 ISL1 MEF2C NKX2-5
8 respiratory system MP:0005388 9.17 GATA4 GJA5 MEF2C MYH6 NKX2-5 TBX1

Drugs & Therapeutics for Heart Septal Defect

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

(show top 50) (show all 105)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
Clopidogrel Approved Phase 4 113665-84-2, 120202-66-6 60606
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
Racepinephrine Approved Phase 4 329-65-7 838
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
9 Excitatory Amino Acid Antagonists Phase 4
10 Anesthetics, General Phase 4
11 Anesthetics, Dissociative Phase 4
12 Anesthetics, Intravenous Phase 4
13 Adrenergic alpha-Agonists Phase 4
14 Hypnotics and Sedatives Phase 4
15 Respiratory System Agents Phase 4
16 Albuterol Phase 4
17 Anti-Asthmatic Agents Phase 4
18 Bronchodilator Agents Phase 4
19 Tocolytic Agents Phase 4
20 Purinergic P2Y Receptor Antagonists Phase 4
21 Pharmaceutical Solutions Phase 4
22 Carticaine Phase 4
23 Epinephryl borate Phase 4
Warfarin Approved Phase 2, Phase 3 81-81-2 6691 54678486
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
Streptokinase Approved, Investigational Phase 3 9002-01-1
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
Titanium dioxide Approved Phase 3 13463-67-7
Povidone Approved Phase 3 9003-39-8
Enalapril Approved, Vet_approved Phase 3 75847-73-3 40466924 5362032
Enalaprilat Approved Phase 3 76420-72-9 6917719
Dobutamine Approved Phase 3 34368-04-2 36811
33 Endothelin Receptor Antagonists Phase 3
34 Analgesics Phase 3
35 Fibrinolytic Agents Phase 3
36 Analgesics, Non-Narcotic Phase 3
37 Platelet Aggregation Inhibitors Phase 3
38 Antipyretics Phase 3
39 Cyclooxygenase Inhibitors Phase 3
40 Anti-Inflammatory Agents Phase 3
Triacetin Phase 3 102-76-1 5541
Ethyl cellulose Phase 3 9004-57-3 24832091
43 Antirheumatic Agents Phase 3
44 Anti-Inflammatory Agents, Non-Steroidal Phase 3
45 Neurotransmitter Agents Phase 3
46 Antihypertensive Agents Phase 3
protease inhibitors Phase 3
48 Angiotensin-Converting Enzyme Inhibitors Phase 3
49 HIV Protease Inhibitors Phase 3
50 Adrenergic Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 153)
# 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 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
9 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
10 The Pharmacology of Dexmedetomidine in Children With Congenital Heart Disease Completed NCT00480740 Phase 3 Dexmedetomidine
11 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
12 Infant Heart Surgery: Central Nervous System Sequelae of Circulatory Arrest Completed NCT00000470 Phase 3
13 Medtronic Concomitant Utilization of Radio Frequency Energy for Atrial Fibrillation (CURE-AF)/Permanent Study Completed NCT00431834 Phase 3
14 Medtronic Concomitant Utilization of Radio Frequency Energy for Atrial Fibrillation (CURE-AF)/Persistent Study Completed NCT00506493 Phase 3
15 A Phase III Double-Blind, Randomized, Placebo Controlled, Multi-Center Clinical Study to Evaluate the Efficacy and Safety of Intravenous L-citrulline for the Prevention of Clinical Sequelae of Acute Lung Injury Induced by Cardiopulmonary Bypass in Pediatric Subjects Undergoing Surgery for Congenital Heart Defects Completed NCT02891837 Phase 3 L-citrulline
16 A Phase III Single-Blind, Randomized, Placebo Controlled, Clinical Trial to Determine the Safety and Efficacy of Intravenous L-Citrulline Versus Placebo in Children Undergoing Cardiopulmonary Bypass Completed NCT00335244 Phase 3 L-citrulline;Placebo of intravenous L-citrulline
17 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
18 A Prospective Phase III Parallel, Randomised Controlled Trial Using Double-bolus Recombinant Staphylokinase (THR-100) vs Streptokinase in Patients With Acute Myocardial Infarction Completed NCT01305226 Phase 3 THR-100;Streptokinase
19 Iatrogenic Atrial Septal Defect Study Recruiting NCT04395027 Phase 3
20 Investigating the Role of Early Low-dose Aspirin in Diabetes: A Phase III Multicentre Double-blinded Placebo-controlled Randomised Trial of Low-dose Aspirin Initiated in the First Trimester of Diabetes Pregnancy Not yet recruiting NCT03574909 Phase 3 Aspirin;Placebos
21 Trial of ACE Inhibition in Children With Mitral Regurgitation After Repair of AVSD Terminated NCT00113698 Phase 3 Enalapril
22 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
23 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.
24 Cardiac Imaging Under Exercise Stress Test for Early Assessment of Right Ventricular Function in Patients With Tetralogy of Fallot and Pulmonary Regurgitation Terminated NCT00564993 Phase 3 Dobutamin
25 Use of Ketamine Prior to Cardiopulmonary Bypass in Children Completed NCT00556361 Phase 2 saline;ketamine
26 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
27 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
28 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
29 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
30 Phase I/II Clinical Trial to Determine the Pharmacokinetics and Safety Profile of Citrulline in Children Undergoing Cardiopulmonary Bypass Completed NCT00201214 Phase 1, Phase 2 Citrulline
31 When Are Parents Helpful? A Randomized Clinical Trial of the Efficacy of Maternal Sound for Pediatric Patients Undergoing Cardiac Surgery Completed NCT02674126 Phase 2
32 Clinical Efficacy of Phosphodiesterase-5 Inhibitor Tadalafil in Eisenmenger Syndrome - A Randomised, Placebo Controlled, Double Blind, Crossover Study Completed NCT01200732 Phase 2 Tadalafil, placebo
33 Optical Tissue Identification for Myocardial Architecture (OPTIMA Study) Recruiting NCT04017975 Phase 2 Fluorescite
34 Compassionate Use of Catheter Thrombectomy (Aspirex 11F) in Patients With Massive Pulmonary Embolism Terminated NCT00314002 Phase 1, Phase 2
35 Closure of Perimembranous Ventricular Septal Defects With The AMPLATZER® Membranous VSD OCCLUDER Completed NCT00578708 Phase 1
36 Utilization of Confocal Microscopy During Cardiac Surgery Completed NCT03189134 Phase 1 Fluorescite
37 A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics Completed NCT01915277 Phase 1 Dexmedetomidine
38 Radiation-Free Heart Catheterization Using MRI Recruiting NCT02739087 Phase 1
39 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
40 Occluder Size Determination in Transcatheter Closure of Ostium Secundum Atrial Septal Defect Based on Three-Dimensional Echocardiography Assessment Unknown status NCT02601768
41 The Effect of the Iatrogenic Atrial Septal Defect After MitraClip Procedure on the Hemodynamic Outcome Unknown status NCT02453451
42 Aortic Regurgitation After Surgical Repair of Outlet-Type Ventricular Septal Defect Unknown status NCT00173186
43 A Multicentre, Randomized Controlled Study of Blood Clotting After Transcatheter Atrial Septal Defect Closure Unknown status NCT01086046 Low molecular weight heparin
44 International Registry for Secundum Atrial Septal Defects Closure by Using the Occlutech®Flex II Device in More Than 2000 Patients Unknown status NCT02766569
45 "Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects" (CARDIoG) Unknown status NCT02503267
46 Changes in Ventricular Remodeling and Exercise Cardiopulmonary Function After Transcatheter Closure of Ventricular Septal Defect Unknown status NCT03127748
47 A Prospective, Multi-center Study to Evaluate the Safety and Performance of the Hyperion™ ASD and PDA Closure Systems. Unknown status NCT02220270
48 Study of Energy Expenditure in Infants With Ventricular Septal Defects Unknown status NCT00006272
49 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
50 Multicenter Registry Study of Surgery and Transcatheter Intervention for Structural Heart Diseases Unknown status NCT02917980

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:

Heart, Lung, Brain, Testes, Liver, Endothelial, Kidney

Publications for Heart Septal Defect

Articles related to Heart Septal Defect:

(show top 50) (show all 20048)
# Title Authors PMID Year
GATA4 sequence variants in patients with congenital heart disease. 61 54
18055909 2007
Spectrum of heart disease associated with murine and human GATA4 mutation. 61 54
17643447 2007
Prenatal Atrioventricular Septal Defect (AVSD) as a planned congenital heart disease with different outcome depending on the presence of the coexisting extracardiac abnormalities (ECA) and/or malformations (ECM). 61
30514144 2020
Novel Endoscopic Management of a Chronic Gastro-Gastric Fistula Using a Cardiac Septal Defect Occluder. 61
32323064 2020
Transseptal occluder migration after transcatheter atrial septal aneurysm and double secondary septal defect correction: A case report. 61
32566068 2020
Twenty Years of Repair of Ventricular Septal Defects in Ghana. 61
32476123 2020
The Pediatric Heart Network Residual Lesion Score Study: Design and objectives. 61
31870553 2020
Severe regurgitation of a double-orifice left atrioventricular valve in a patient with repaired atrioventricular septal defect: added value of 3D echocardiography. 61
32025710 2020
Repair of Chronic Ventricular Septal Defect. 61
31926155 2020
Twenty-Three-Year Experience With the Arterial Switch Operation: Expectations and Long-Term Outcomes. 61
31958553 2020
First Successful Open-Heart Surgery Utilizing Cross-Circulation in 1954. 61
31958424 2020
Is a Fetal Echocardiography Necessary in IVF-ICSI Pregnancies After Anatomic Survey? 61
32343439 2020
Congenital heart disease with pulmonary artery hypertension in an Asian cohort-initial report from TACHYON (TAiwan congenital heart disease associated with pulmonarY arterial hypertension) registry. 61
32522677 2020
Not all septal defects are equal. Outcomes of Bilateral Lung Transplant with Cardiac Defect Repair vs. Combined Heart-Lung Transplant in Patients with Eisenmenger's Syndrome in the United States. 61
32565271 2020
Primary repair of transposition of the great arteries with an interrupted aortic arch: a case report and literature review. 61
32527284 2020
Biventricular repair of double-outlet right ventricle with noncommitted ventricular septal defect using intraventricular conduit. 61
31564538 2020
Prevalence and outcome of increased nuchal translucency in usmanu danfodiyo university teaching hospital, Sokoto, Nigeria: A cohort study. 61
32525124 2020
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling. 61
32413283 2020
Decreased Pulmonary Arterial Compliance is a Predictor for Poor Outcomes in Infants with Isolated Atrial Septal Defect and Pulmonary Hypertension. 61
32556489 2020
Right ventricular outflow tract obstruction caused by a right coronary cusp prolapse: An unusual finding. 61
32574403 2020
Safety and efficacy of Catheter Ablation for Atrial Fibrillation in Patients with Percutaneous Atrial Septal Closure Device. Electrophysiology Collaborative Consortium for Metaanalysis - ELECTRAM Investigators. 61
32530528 2020
Isolated left subclavian artery in a right aortic arch: a rare association with distal arch hypoplasia, coarctation and ventricular septal defect. 61
32539563 2020
Commentary: Intraventricular conduit repair for double-outlet right ventricle with noncommitted ventricular septal defect-How bright is the light at the end of the tunnel? 61
31669028 2020
Effect of End-Tidal Carbon Dioxide on Cerebral Dynamics in Infants With Ventricular Septal Defect: A Comparison Between Sevoflurane and Intravenous Anesthetics. 61
32139343 2020
Successful staged repair of pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries in an extremely low birth weight infant. 61
31147961 2020
Percutaneous Puncture Closure of Postoperative Residual Ventricular Septal Defects Without Radiation. 61
32035048 2020
Neuropsychological Status and Structural Brain Imaging in Adults With Simple Congenital Heart Defects Closed in Childhood. 61
32427039 2020
What have we learned from 691 prenatal chromosomal microarrays for ventricular septal defects? 61
31424084 2020
Late failure of atrial septal defect occluder device. 61
32552510 2020
Iatrogenic Atrial Septal Defect Causing Position-Dependent Hypoxemia. 61
32535003 2020
Congenital heart disease combined with Arrhythmogenic Right Ventricular Cardiomyopathy: A CARE compliant case report and literature review. 61
32569162 2020
Outcomes of aortic coarctation surgical repair in adolescents and adults. 61
32221581 2020
Pacemaker and conduction disturbances in patients with atrial septal defect. 61
32498739 2020
Adult Congenital Heart Disease Outpatient Clinic. Descriptive Analysis of A 12-Year Experience in Brazil. 61
32549096 2020
Late Period Rastelli Take-Down and Arterial Switch Operation After Rastelli Operation: An Adult Case. 61
32504598 2020
Acquired ventricular septal defect following surgery for aortic valve endocarditis. 61
32554449 2020
Pregnancy outcomes in patients with multiple sclerosis treated with teriflunomide: Clinical study data and 5 years of post-marketing experience. 61
30968734 2020
Robotic-assisted cardiac surgery without lung isolation utilizing single-lumen endotracheal tube intubation. 61
32353922 2020
Absent right superior vena cava with left superior vena cava draining into unroofed coronary sinus with common atrium in a child with an atrioventricular septal defect. 61
32485051 2020
Stenotic double-orifice mitral valve after surgical repaired partial atrioventricular septal defect. 61
32535933 2020
Cor triatriatum with Raghib complex in partial atrioventricular septal defect and common atrium: a rare combination. 61
31250204 2020
Ventricular Septal Defect Pulmonary Atresia: Provisional Bifurcation Strategy for Confluence Stenosis During Patent Ductus Arteriosis Stenting. 61
32416064 2020
Collateral damage of COVID-19 pandemic: Delayed medical care. 61
32419177 2020
Comparative Study between Surgical Repair of Atrial Septal Defect via Median Sternotomy, Right Submammary Thoracotomy, and Right Vertical Infra-Axillary Thoracotomy. 61
32549099 2020
A case of AndraStent® fracture in a patient with aortic coarctation: a review of the literature. 61
32513327 2020
Why are congenital heart defects being missed? 61
31131945 2020
Identification of a possible association of JAK2 in development of microphthalmia, anophthalmia, and coloboma (MAC) complex in a child with 9p deletion and duplication. 61
32506980 2020
Survival, Morbidities, and Developmental Outcomes among Low Birth Weight Infants with Congenital Heart Defects. 61
32485756 2020
Epicardial blebs and septal hematoma after ventricular septal defect closure. 61
32539424 2020
Pulmonary Function in Older Patients With Ventricular Septal Defect. 61
32291090 2020

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 FLJ42953 cardiac septal defect
5 161579 22 19405375 20797502 Deletion GGT-2 cardiac septal defect
6 161580 22 19405375 20797502 Deletion HIC2 cardiac septal defect
7 161581 22 19405375 20797502 Deletion LOC150223 cardiac septal defect
8 161582 22 19405375 20797502 Deletion LOC220686 cardiac septal defect
9 161583 22 19405375 20797502 Deletion LOC400891 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 MGC16703 cardiac septal defect
13 161587 22 19405375 20797502 Deletion P2RXL1 cardiac septal defect
14 161588 22 19405375 20797502 Deletion PIKA4CA 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 RBP3.2 cardiac septal defect
18 161592 22 19405375 20797502 Deletion RBP3.3 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 mir-130b cardiac septal defect
28 161602 22 19405375 20797502 Deletion mir-301b 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 nuclear chromatin GO:0000790 9.28 ZFPM2 TBX5 TBX20 TBX1 NKX2-5 MEF2C

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

(show top 50) (show all 51)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.26 TBX5 TBX20 TBX1 NKX2-5 MEF2C ISL1
2 multicellular organism development GO:0007275 10.22 TBX5 TBX20 TBX1 NKX2-5 MEF2C ISL1
3 positive regulation of transcription by RNA polymerase II GO:0045944 10.16 ZFPM2 TBX5 TBX20 TBX1 NKX2-5 MEF2C
4 negative regulation of transcription by RNA polymerase II GO:0000122 10.15 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 9.85 ZFPM2 TBX20 NKX2-5
7 blood vessel development GO:0001568 9.84 TBX1 MEF2C GJA5
8 ventricular septum morphogenesis GO:0060412 9.81 ZFPM2 NKX2-5 GJA5
9 ventricular septum development GO:0003281 9.81 TBX5 GJA5 GATA4
10 cell fate specification GO:0001708 9.8 TBX5 TBX20 TBX1
11 heart morphogenesis GO:0003007 9.8 TBX1 NKX2-5 ISL1 HAND2
12 negative regulation of cardiac muscle cell apoptotic process GO:0010667 9.78 NKX2-5 MIR199A1 HAND2 GATA4
13 positive regulation of cardiac muscle cell proliferation GO:0060045 9.77 ZFPM2 TBX5 TBX20 MIR199A1 MEF2C
14 heart development GO:0007507 9.76 ZFPM2 TBX5 TBX1 NKX2-5 MEF2C ISL1
15 cardiac muscle tissue development GO:0048738 9.75 ZFPM2 NKX2-5 GATA4
16 embryonic heart tube development GO:0035050 9.74 TBX20 NKX2-5 GJA5
17 pharyngeal system development GO:0060037 9.73 TBX1 NKX2-5 ISL1
18 heart looping GO:0001947 9.73 TBX20 TBX1 NKX2-5 MEF2C HAND2 GATA4
19 adult heart development GO:0007512 9.72 NKX2-5 MYH6 HAND2
20 outflow tract septum morphogenesis GO:0003148 9.72 ZFPM2 TBX20 TBX1 NKX2-5 ISL1
21 endocardial cushion morphogenesis GO:0003203 9.71 TBX20 ISL1
22 cell growth involved in cardiac muscle cell development GO:0061049 9.71 MIR199A1 GATA4
23 negative regulation of low-density lipoprotein particle clearance GO:0010989 9.71 MIR199A1 MIR17
24 cardiac right ventricle morphogenesis GO:0003215 9.71 TBX20 ISL1 GATA4
25 cardiac muscle cell differentiation GO:0055007 9.71 TBX5 NKX2-5 MEF2C GATA4
26 cardiac muscle tissue morphogenesis GO:0055008 9.7 TBX20 NKX2-5
27 cardiac septum development GO:0003279 9.7 TBX20 CRELD1
28 cardiac muscle hypertrophy in response to stress GO:0014898 9.7 MYH6 MEF2C
29 positive regulation of cardiac muscle cell differentiation GO:2000727 9.7 MIR499A MEF2C
30 endocardial cushion development GO:0003197 9.7 TBX5 GATA4 CRELD1
31 positive regulation of cardiac muscle hypertrophy in response to stress GO:1903244 9.69 MIR199A1 MIR17
32 peripheral nervous system neuron development GO:0048935 9.69 ISL1 HAND2
33 embryonic viscerocranium morphogenesis GO:0048703 9.69 TBX1 MEF2C
34 secondary heart field specification GO:0003139 9.68 MEF2C ISL1
35 cardiac ventricle morphogenesis GO:0003208 9.68 NKX2-5 GATA4
36 coronary artery morphogenesis GO:0060982 9.68 TBX1 HAND2
37 atrial septum development GO:0003283 9.68 TBX5 GJA5
38 cartilage morphogenesis GO:0060536 9.66 MEF2C HAND2
39 regulation of cardiac muscle cell proliferation GO:0060043 9.66 NKX2-5 MIR199A1
40 cardiac ventricle formation GO:0003211 9.65 NKX2-5 MEF2C
41 cardiac conduction system development GO:0003161 9.65 NKX2-5 GJA5
42 regulation of secondary heart field cardioblast proliferation GO:0003266 9.64 ISL1 HAND2
43 visceral motor neuron differentiation GO:0021524 9.62 TBX20 ISL1
44 apoptotic process involved in heart morphogenesis GO:0003278 9.62 NKX2-5 HAND2
45 bundle of His development GO:0003166 9.61 TBX5 NKX2-5
46 positive regulation of cardioblast differentiation GO:0051891 9.61 TBX5 NKX2-5 GATA4
47 foramen ovale closure GO:0035922 9.6 TBX20 GJA5
48 right ventricular cardiac muscle tissue morphogenesis GO:0003221 9.59 ZFPM2 NKX2-5
49 pulmonary valve formation GO:0003193 9.58 TBX20 GJA5
50 outflow tract morphogenesis GO:0003151 9.5 TBX20 TBX1 NKX2-5 MIR17 MEF2C ISL1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.13 ZFPM2 TBX5 TBX20 TBX1 NKX2-5 MEF2C
2 DNA-binding transcription factor activity GO:0003700 10.02 TBX5 TBX20 TBX1 NKX2-5 MEF2C GATA4
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.91 TBX5 TBX20 NKX2-5 MEF2C ISL1 GATA4
4 sequence-specific DNA binding GO:0043565 9.91 TBX5 TBX1 NKX2-5 MEF2C ISL1 HAND2
5 transcription regulatory region sequence-specific DNA binding GO:0000976 9.86 NKX2-5 MEF2C HAND2 GATA4
6 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.84 MIR499A MIR423 MIR199A1 MIR17
7 transcription regulatory region DNA binding GO:0044212 9.83 NKX2-5 MEF2C HAND2 GATA4
8 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.8 TBX5 TBX20 TBX1 MEF2C HAND2 GATA4
9 transcription factor binding GO:0008134 9.73 ZFPM2 TBX5 NKX2-5 MEF2C HAND2 GATA4
10 proximal promoter sequence-specific DNA binding GO:0000987 9.69 MEF2C ISL1 GATA4
11 RNA polymerase II transcription factor binding GO:0001085 9.63 ZFPM2 TBX20 GATA4
12 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.61 ZFPM2 TBX5 TBX20 TBX1 NKX2-5 MEF2C
13 activating transcription factor binding GO:0033613 9.58 MEF2C HAND2 GATA4
14 AT DNA binding GO:0003680 9.49 MEF2C HAND2
15 RNA polymerase II activating transcription factor binding GO:0001102 9.46 TBX5 TBX20 TBX1 ISL1
16 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.23 TBX5 TBX20 TBX1 NKX2-5 MEF2C ISL1

Sources for Heart Septal Defect

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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