MCID: HRT011
MIFTS: 50

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

Classifications:



External Ids:

Disease Ontology 12 DOID:1681
MeSH 43 D006343
NCIt 49 C84482
SNOMED-CT 67 59494005 8352002
ICD10 32 Q21 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 atrial septal defect 5 and atrial septal defect 2. 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 BMAL1-CLOCK,NPAS2 activates circadian gene expression. 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 homeostasis/metabolism

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 877)
# Related Disease Score Top Affiliating Genes
1 atrial septal defect 5 33.9 TBX5 TBX20 NKX2-5
2 atrial septal defect 2 33.9 TBX20 NKX2-5 GATA4
3 atrial septal defect 9 33.9 PRODH GATA6 CFAP47
4 atrial heart septal defect 33.6 ZFPM2 ZFHX3 TBX5 TBX20 TBX1 PRODH
5 partial atrioventricular canal 33.6 GATA6 GATA4 CRELD1
6 atrial septal defect 4 33.5 TBX20 NKX2-5
7 ventricular septal defect 33.4 ZFPM2 ZFHX3 TBX5 TBX20 PRODH NKX2-5
8 right atrial isomerism 33.4 TBX5 TBX20 NKX2-5 CFC1
9 hypoplastic right heart syndrome 33.2 TBX5 TBX20 HAND2
10 conotruncal heart malformations 33.1 ZFPM2 TBX1 NKX2-5 GATA6
11 tricuspid atresia 33.0 ZFPM2 TBX5 TBX20 TBX1 PRODH NKX2-5
12 eisenmenger syndrome 33.0 NKX2-5 GATA4
13 holt-oram syndrome 32.7 TBX5 TBX20 TBX1 NKX2-5 MYH6 MEF2C
14 double outlet right ventricle 32.5 ZFPM2 TBX5 TBX20 TBX1 NKX2-5 MEF2C
15 atrioventricular block 32.2 TBX5 NKX2-5 GJA5 GATA4
16 dextro-looped transposition of the great arteries 32.1 TBX5 NKX2-5 GATA4 CRELD1 CFC1
17 hypoplastic left heart syndrome 31.9 TBX5 TBX20 TBX1 NKX2-5 MYH6 MEF2C
18 pulmonary valve stenosis 31.7 TBX5 NKX2-5 GATA4 CFC1
19 atrioventricular septal defect 31.6 ZFPM2 TBX5 TBX20 TBX1 NKX2-5 MYH6
20 atrial fibrillation 31.6 ZFHX3 TBX5 MIR199A1 GJA5 GATA6
21 sick sinus syndrome 31.5 MYH6 MIR423 GJA5
22 atrial standstill 1 31.4 MYH6 GJA5 GATA4
23 orthostatic intolerance 31.4 TBX5 TBX20 MIR423
24 sinoatrial node disease 31.4 TBX5 NKX2-5 MYH6 GJA5
25 complete atrioventricular canal-left heart obstruction syndrome 31.4 GATA4 CRELD1
26 complete atrioventricular canal-tetralogy of fallot syndrome 31.4 GATA4 CRELD1
27 complete atrioventricular canal-ventricle hypoplasia syndrome 31.4 GATA6 GATA4 CRELD1
28 total anomalous pulmonary venous return 1 31.2 TBX5 NKX2-5 GATA4 CRELD1
29 coronary artery anomaly 31.2 TBX1 NKX2-5 MYH6 MIR199A1 GATA4
30 aortic valve disease 2 31.2 TBX5 NKX2-5 MYH6 MIR423 MIR199A1 GATA4
31 aortic valve disease 1 31.1 TBX5 TBX20 TBX1 NKX2-5 MYH6 ISL1
32 wolff-parkinson-white syndrome 31.0 TBX5 TBX20 NKX2-5 MYH6 GJA5
33 heart valve disease 31.0 NKX2-5 MYH6 MIR423 MIR199A1 GATA4
34 left ventricular noncompaction 30.9 TBX5 TBX20 NKX2-5 MYH6 GJA5 GATA4
35 ebstein anomaly 30.8 ZFPM2 TBX5 TBX20 NKX2-5 MYH6 HAND2
36 mitral valve insufficiency 30.6 TBX5 MYH6 MIR423
37 diaphragmatic hernia, congenital 30.6 ZFPM2 GATA6 GATA4
38 digeorge syndrome 30.6 TBX5 TBX20 TBX1 PRODH NKX2-5 MIR423
39 inguinal hernia 30.5 TBX1 GATA6 GATA4
40 dilated cardiomyopathy 30.5 TBX5 TBX20 NKX2-5 MYH6 MIR199A1 MEF2C
41 char syndrome 30.4 TBX5 TBX20 NKX2-5 CRELD1
42 ulnar-mammary syndrome 30.4 TBX5 TBX20 TBX1 NKX2-5
43 pulmonary valve disease 30.3 TBX5 NKX2-5 GATA6 GATA4 CFC1
44 brugada syndrome 30.2 TBX5 NKX2-5 MYH6 GJA5
45 heart disease 30.2 ZFHX3 TBX5 TBX20 TBX1 PRODH NKX2-5
46 patent ductus arteriosus 1 30.1 TBX5 TBX20 TBX1 PRODH NKX2-5 MYH6
47 chromosomal disease 30.0 TBX1 PRODH CRELD1
48 patent foramen ovale 29.8 TBX5 TBX20 TBX1 NKX2-5 MYH6 HAND2
49 tetralogy of fallot 29.3 ZFPM2 TBX5 TBX20 TBX1 PRODH NKX2-5
50 atrial septal defect 7 with or without atrioventricular conduction defects 12.8

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:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.37 CRELD1 GATA4 GATA5 GATA6 GJA5 HAND2
2 homeostasis/metabolism MP:0005376 10.31 GATA4 GATA5 GATA6 GJA5 HAND2 ISL1
3 cellular MP:0005384 10.29 CRELD1 GATA4 GATA5 GATA6 HAND2 ISL1
4 mortality/aging MP:0010768 10.2 CRELD1 GATA4 GATA5 GATA6 GJA5 HAND2
5 embryo MP:0005380 10.18 CRELD1 GATA4 GATA6 HAND2 ISL1 MEF2C
6 endocrine/exocrine gland MP:0005379 10.11 GATA4 GATA5 GJA5 HAND2 ISL1 NKX2-5
7 digestive/alimentary MP:0005381 10.1 GATA4 GATA5 GJA5 HAND2 ISL1 MEF2C
8 muscle MP:0005369 10.07 GATA4 GATA5 GATA6 GJA5 HAND2 ISL1
9 integument MP:0010771 10.01 GATA4 GATA5 ISL1 MEF2C NKX2-5 PRODH
10 limbs/digits/tail MP:0005371 9.97 GATA4 GATA6 HAND2 ISL1 MEF2C PRODH
11 normal MP:0002873 9.73 GATA4 GATA6 GJA5 HAND2 ISL1 MEF2C
12 no phenotypic analysis MP:0003012 9.7 GATA4 GJA5 HAND2 ISL1 NKX2-5 TBX20
13 respiratory system MP:0005388 9.23 GATA4 GATA6 GJA5 MEF2C MYH6 NKX2-5

Drugs & Therapeutics for Heart Septal Defect

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

(show top 50) (show all 113)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
2
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
3
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
4
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
5
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
6
Racepinephrine Approved Phase 4 329-65-7 838
7
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
8
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
9 Anesthetics, Dissociative Phase 4
10 Excitatory Amino Acids Phase 4
11 Anesthetics, General Phase 4
12 Anesthetics, Intravenous Phase 4
13 Excitatory Amino Acid Antagonists Phase 4
14 Adrenergic alpha-2 Receptor Agonists Phase 4
15 Hypnotics and Sedatives Phase 4
16 Tocolytic Agents Phase 4
17 Anti-Asthmatic Agents Phase 4
18 Respiratory System Agents Phase 4
19 Bronchodilator Agents Phase 4
20 Albuterol Phase 4
21 Purinergic P2Y Receptor Antagonists Phase 4
22 Pharmaceutical Solutions Phase 4
23 Carticaine Phase 4
24 Epinephryl borate Phase 4
25
Warfarin Approved Phase 2, Phase 3 81-81-2 6691 54678486
26
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
27
Streptokinase Approved, Investigational Phase 3 9002-01-1
28
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
29
Titanium dioxide Approved Phase 3 13463-67-7
30
Povidone Approved Phase 3 9003-39-8
31
Enalaprilat Approved Phase 3 76420-72-9 6917719
32
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
33
Dobutamine Approved Phase 3 34368-04-2 36811
34 Endothelin Receptor Antagonists Phase 3
35 Analgesics Phase 3
36 Fibrinolytic Agents Phase 3
37 Analgesics, Non-Narcotic Phase 3
38 Anti-Inflammatory Agents Phase 3
39 Anti-Inflammatory Agents, Non-Steroidal Phase 3
40 Platelet Aggregation Inhibitors Phase 3
41 Antipyretics Phase 3
42 Cyclooxygenase Inhibitors Phase 3
43 Antirheumatic Agents Phase 3
44
Ethyl cellulose Phase 3 9004-57-3 24832091
45
Triacetin Phase 3 102-76-1 5541
46 Neurotransmitter Agents Phase 3
47
protease inhibitors Phase 3
48 Antihypertensive Agents Phase 3
49 HIV Protease Inhibitors Phase 3
50 Angiotensin-Converting Enzyme Inhibitors Phase 3

Interventional clinical trials:

(show top 50) (show all 147)
# 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)/Persistent Study Completed NCT00506493 Phase 3
14 Medtronic Concomitant Utilization of Radio Frequency Energy for Atrial Fibrillation (CURE-AF)/Permanent Study Completed NCT00431834 Phase 3
15 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
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 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
18 A Phase III Double-Blind, Randomized, Placebo Controlled, Multi-Center Clinical Study to Evaluate the Efficacy and Safety of Intravenous L-citrulline for the Prevention of Clinical Sequelae of Acute Lung Injury Induced by Cardiopulmonary Bypass in Pediatric Subjects Undergoing Surgery for Congenital Heart Defects Active, not recruiting NCT02891837 Phase 3 L-citrulline
19 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
20 Trial of ACE Inhibition in Children With Mitral Regurgitation After Repair of AVSD Terminated NCT00113698 Phase 3 Enalapril
21 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
22 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.
23 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
24 Use of Ketamine Prior to Cardiopulmonary Bypass in Children Completed NCT00556361 Phase 2 saline;ketamine
25 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
26 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
27 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
28 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
29 When Are Parents Helpful? A Randomized Clinical Trial of the Efficacy of Maternal Sound for Pediatric Patients Undergoing Cardiac Surgery Completed NCT02674126 Phase 2
30 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
31 Clinical Efficacy of Phosphodiesterase-5 Inhibitor Tadalafil in Eisenmenger Syndrome - A Randomised, Placebo Controlled, Double Blind, Crossover Study Completed NCT01200732 Phase 2 Tadalafil, placebo
32 Optical Tissue Identification for Myocardial Architecture (OPTIMA Study) Recruiting NCT04017975 Phase 2 Fluorescite
33 Compassionate Use of Catheter Thrombectomy (Aspirex 11F) in Patients With Massive Pulmonary Embolism Terminated NCT00314002 Phase 1, Phase 2
34 Closure of Perimembranous Ventricular Septal Defects With The AMPLATZER® Membranous VSD OCCLUDER Completed NCT00578708 Phase 1
35 Utilization of Confocal Microscopy During Cardiac Surgery Completed NCT03189134 Phase 1 Fluorescite
36 A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics Completed NCT01915277 Phase 1 Dexmedetomidine
37 Radiation-Free Heart Catheterization Using MRI Recruiting NCT02739087 Phase 1
38 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 Active, not recruiting NCT01825369 Phase 1 IV L-carnitine
39 Occluder Size Determination in Transcatheter Closure of Ostium Secundum Atrial Septal Defect Based on Three-Dimensional Echocardiography Assessment Unknown status NCT02601768
40 The Effect of the Iatrogenic Atrial Septal Defect After MitraClip Procedure on the Hemodynamic Outcome Unknown status NCT02453451
41 Aortic Regurgitation After Surgical Repair of Outlet-Type Ventricular Septal Defect Unknown status NCT00173186
42 A Multicentre, Randomized Controlled Study of Blood Clotting After Transcatheter Atrial Septal Defect Closure Unknown status NCT01086046 Low molecular weight heparin
43 International Registry for Secundum Atrial Septal Defects Closure by Using the Occlutech®Flex II Device in More Than 2000 Patients Unknown status NCT02766569
44 "Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects" (CARDIoG) Unknown status NCT02503267
45 Changes in Ventricular Remodeling and Exercise Cardiopulmonary Function After Transcatheter Closure of Ventricular Septal Defect Unknown status NCT03127748
46 A Prospective, Multi-center Study to Evaluate the Safety and Performance of the Hyperion™ ASD and PDA Closure Systems. Unknown status NCT02220270
47 Study of Energy Expenditure in Infants With Ventricular Septal Defects Unknown status NCT00006272
48 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
49 Cardiac Murmurs in Children: Predictive Value of Cardiac Markers Unknown status NCT02746029
50 Prospective, Monocentric Pilot Study for the Identification of Known or Novel Genes Associated With Development of Pulmonary Arterial Hypertension in Patients With Congenital Shunt Lesions Unknown status NCT02691689

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

Publications for Heart Septal Defect

Articles related to Heart Septal Defect:

(show top 50) (show all 19771)
# 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
Restrictive ventricular septal defect resulting in systemic outflow obstruction in adults with Fontan circulation: challenging diagnosis of a serious and potentially fatal complication. 61
31789717 2020
4
'Crochetage' sign of atrial septal defect. 61
31179495 2020
5
Specific birth defects in pregnancies of women with diabetes: National Birth Defects Prevention Study, 1997-2011. 61
31454511 2020
6
Risk factors and outcomes of intravenous tissue plasminogen activator and endovascular thrombectomy utilization amongst pediatrics acute ischemic stroke. 61
32009581 2020
7
Resource utilisation in paediatric patients with secundum atrial septal defects. 61
32036805 2020
8
Undiagnosed Pulmonary Sequestration Causing Systemic Circulation Hypoperfusion During Ventricular Septal Defect Repair in an Infant. 61
31345720 2020
9
Measuring Cerebral Carbon Dioxide Reactivity With Transcranial Doppler and Near-Infrared Spectroscopy in Children With Ventricular Septal Defect. 61
31351875 2020
10
Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan. 61
31837205 2020
11
Repair of Complex Transposition of Great Arteries: Up to 30 Years of Follow-up. 61
31715151 2020
12
Percutaneous puncture closure of postoperative residual ventricular septal defects without radiation. 61
32035048 2020
13
Does Echocardiography Have a Role in the Cardiologist's Diagnosis of Innocent Murmurs in Childhood? 61
30876810 2020
14
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
15
Endoscopic closure of a bronchopleural fistula after pneumonectomy with the Amplatzer occluder: a step forward? 61
31603203 2020
16
Pulmonary valve infective endocarditis with atrial septal defect and pulmonary valve disease-too coincidental to be true? 61
32034668 2020
17
The influence of iatrogenic atrial septal defect on the prognosis of patients with atrial fibrillation between cryoablation and radiofrequency ablation. 61
31930391 2020
18
Congenitally corrected transposition of the great arteries: is it really a transposition? An anatomical study of the right ventricular septal surface. 61
31657020 2020
19
A unique indication for the senning procedure: Atrioventricular discordance with ventriculoarterial concordance. 61
31793037 2020
20
Living With, and Caring for, Congenital Heart Disease in Australia: Insights From the Congenital Heart Alliance of Australia and New Zealand Online Survey. 61
30826267 2020
21
Vacuum-Assisted Closure for the Treatment of Deep Sternal Wound Infection After Pediatric Cardiac Surgery. 61
31568260 2020
22
Initial experiences with a novel biodegradable device for percutaneous closure of atrial septal defects: From preclinical study to first-in-human experience. 61
31714687 2020
23
Systemic-to-pulmonary shunt vs right ventricle to pulmonary artery connection in the treatment of pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries. 61
31778584 2020
24
Three-dimensional echocardiography and proximal isovelocity surface area method for the assessment of ventricular septal defect size: implications for transcatheter closure. 61
31377767 2020
25
Transcatheter Atrial Septal Defect Closure in a 'Nonagenarian' with Intractable Heart Failure: A Case Report. 61
32009097 2020
26
Data on the role of cardiac α-actin (ACTC1) gene mutations on SRF-signaling. 61
31921954 2020
27
Surgical treatment results of secondary tunnel-like subaortic stenosis after congenital heart disease operations: A 7-year, single-center experience in 25 patients. 61
31765039 2020
28
Repair of Superior Sinus Venosus Atrial Septal Defect Using a Modified Two-Patch Technique. 61
31472131 2020
29
Robotic repair of partial anomalous pulmonary venous connection: the initial experience and technical details. 61
30828770 2020
30
Direct Cannulation in Minimally Invasive Cardiac Surgery With Limited Resources. 61
31336068 2020
31
Tricuspid valve infective endocarditis associated with aseptic meningitis: a rare presentation in a child. 61
31984703 2020
32
Beyond atrial septal defect closure, it is time to start seriously considering closing ventricular septal defects with devices. 61
31652133 2020
33
Aberrant right subclavian artery with atrial septal defect: Simultaneous repair via median sternotomy. 61
32004900 2020
34
ASSURED clinical study: New GORE® CARDIOFORM ASD occluder for transcatheter closure of atrial septal defect. 61
31943749 2020
35
Transcatheter and intraoperative device closure of atrial septal defect in infants under three years of age. 61
31915066 2020
36
Impact of Transcatheter Device Closure of Atrial Septal Defect on Atrial Arrhythmias Propensity in Young Adults. 61
31673734 2020
37
A Long-Term Complication Occurred After Transcatheter Closure of Large Atrial Septal Defect. 61
31956133 2020
38
[Sinus septal defect closure with correction of partial anomalous pulmonary vein drainage through mini-thoracotomy]. 61
31994505 2020
39
The Future of Open Heart Surgery in the Era of Robotic and Minimal Surgical Interventions. 61
31253547 2020
40
Clinical evaluation of percutaneous and intra-operative device closure of atrial septal defects under transesophageal echocardiographic guidance: one center experience and mid-term follow-up. 61
31937330 2020
41
A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrum. 61
31978614 2020
42
Failure of Cellularization of Ventriculotomy Patch Leading to Right Ventricular Pseudoaneurysm. 61
31755355 2020
43
Effects of relative low minute ventilation on cerebral haemodynamics in infants undergoing ventricular septal defect repair. 61
31937383 2020
44
Iatrogenic aortic regurgitation following primary closure of ventricular septal defect: Role of transesophageal echocardiography. 61
31929261 2020
45
Residual Shunts Following Isolated Surgical Ventricular Septal Defect Closure: Risk Factors and Spontaneous Closure. 61
31650215 2020
46
First-in-Human Experience With a Novel Fully Bioabsorbable Occluder for Ventricular Septal Defect. 61
31954669 2020
47
Light anti-thrombotic regimen for prevention of device thrombosis and/or thrombotic complications after interatrial shunts device-based closure. 61
31902564 2020
48
Percutaneous closure for iatrogenic atrial septal defect composed of a hole with slit fenestration and patent foramen ovale after pulmonary vein isolation. 61
30963465 2020
49
[Congenital heart defects in the Valencian Community 2007-2014: The Population-Based Registry Of Congenital Anomalies]. 61
31122878 2020
50
Repair Of Chronic Ventricular Septal Defect. 61
31926155 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 9.4 ZFPM2 ZFHX3 TBX5 TBX20 TBX1 NKX2-5
2 transcription factor complex GO:0005667 9.26 ZFHX3 NKX2-5 HAND2 GATA6

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

(show top 50) (show all 55)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.25 ZFHX3 TBX5 TBX20 TBX1 NKX2-5 MEF2C
2 multicellular organism development GO:0007275 10.23 TBX5 TBX20 TBX1 NKX2-5 MEF2C ISL1
3 negative regulation of transcription by RNA polymerase II GO:0000122 10.18 ZFPM2 ZFHX3 TBX5 TBX20 TBX1 NKX2-5
4 positive regulation of transcription by RNA polymerase II GO:0045944 10.18 ZFPM2 ZFHX3 TBX5 TBX20 TBX1 NKX2-5
5 in utero embryonic development GO:0001701 10 ZFPM2 MYH6 HAND2 GATA6
6 positive regulation of transcription, DNA-templated GO:0045893 10 ZFPM2 ZFHX3 TBX5 TBX20 TBX1 NKX2-5
7 blood coagulation GO:0007596 9.99 ZFPM2 GATA6 GATA5 GATA4
8 positive regulation of angiogenesis GO:0045766 9.97 MIR199A1 ISL1 GATA6 GATA4
9 heart looping GO:0001947 9.93 TBX20 TBX1 NKX2-5 MEF2C HAND2 GATA4
10 muscle organ development GO:0007517 9.89 ZFHX3 TBX1 MEF2C
11 cardiac muscle cell differentiation GO:0055007 9.88 TBX5 NKX2-5 MEF2C GATA6 GATA4
12 vasculogenesis GO:0001570 9.87 ZFPM2 TBX20 NKX2-5
13 heart morphogenesis GO:0003007 9.86 TBX1 NKX2-5 ISL1 HAND2
14 blood vessel development GO:0001568 9.85 TBX1 MEF2C GJA5
15 outflow tract morphogenesis GO:0003151 9.85 TBX20 TBX1 NKX2-5 MEF2C ISL1 GJA5
16 negative regulation of cardiac muscle cell apoptotic process GO:0010667 9.84 NKX2-5 MIR199A1 HAND2 GATA4
17 ventricular septum morphogenesis GO:0060412 9.83 ZFPM2 NKX2-5 GJA5
18 cell fate specification GO:0001708 9.83 TBX5 TBX20 TBX1
19 ventricular septum development GO:0003281 9.83 TBX5 GJA5 GATA4
20 cardiac muscle tissue development GO:0048738 9.83 ZFPM2 NKX2-5 GATA6 GATA5 GATA4
21 aortic valve morphogenesis GO:0003180 9.81 TBX20 GATA5 GATA4
22 heart development GO:0007507 9.81 ZFPM2 TBX5 TBX1 NKX2-5 MEF2C ISL1
23 positive regulation of cardioblast differentiation GO:0051891 9.8 TBX5 NKX2-5 GATA6 GATA4
24 positive regulation of cardiac muscle cell proliferation GO:0060045 9.8 ZFPM2 TBX5 TBX20 MIR199A1 MEF2C GATA6
25 embryonic heart tube development GO:0035050 9.78 TBX20 NKX2-5 GJA5
26 pharyngeal system development GO:0060037 9.77 TBX1 NKX2-5 ISL1
27 cardiac muscle hypertrophy in response to stress GO:0014898 9.77 MYH6 MEF2C GATA6
28 adult heart development GO:0007512 9.76 NKX2-5 MYH6 HAND2
29 cardiac right ventricle morphogenesis GO:0003215 9.75 TBX20 ISL1 GATA4
30 endocardial cushion development GO:0003197 9.74 TBX5 GATA4 CRELD1
31 endocardial cushion morphogenesis GO:0003203 9.72 TBX20 ISL1
32 intestinal epithelial cell differentiation GO:0060575 9.72 GATA6 GATA5 GATA4
33 cell growth involved in cardiac muscle cell development GO:0061049 9.71 MIR199A1 GATA4
34 cardiac septum development GO:0003279 9.71 TBX20 CRELD1
35 cardiac muscle tissue morphogenesis GO:0055008 9.71 TBX20 NKX2-5
36 smooth muscle cell differentiation GO:0051145 9.71 MEF2C GATA6
37 peripheral nervous system neuron development GO:0048935 9.71 ISL1 HAND2
38 embryonic viscerocranium morphogenesis GO:0048703 9.7 TBX1 MEF2C
39 cardiac ventricle morphogenesis GO:0003208 9.7 NKX2-5 GATA4
40 coronary artery morphogenesis GO:0060982 9.7 TBX1 HAND2
41 secondary heart field specification GO:0003139 9.69 MEF2C ISL1
42 cartilage morphogenesis GO:0060536 9.68 MEF2C HAND2
43 regulation of cardiac muscle cell proliferation GO:0060043 9.68 NKX2-5 MIR199A1
44 atrial septum development GO:0003283 9.68 TBX5 GJA5
45 cardiac ventricle formation GO:0003211 9.67 NKX2-5 MEF2C
46 cardiac conduction system development GO:0003161 9.67 NKX2-5 GJA5
47 regulation of secondary heart field cardioblast proliferation GO:0003266 9.66 ISL1 HAND2
48 visceral motor neuron differentiation GO:0021524 9.65 TBX20 ISL1
49 apoptotic process involved in heart morphogenesis GO:0003278 9.64 NKX2-5 HAND2
50 bundle of His development GO:0003166 9.64 TBX5 NKX2-5

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.21 ZFPM2 ZFHX3 TBX5 TBX20 TBX1 NKX2-5
2 DNA-binding transcription factor activity GO:0003700 10.06 ZFHX3 TBX5 TBX20 TBX1 NKX2-5 MEF2C
3 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.95 TBX5 TBX20 TBX1 MEF2C HAND2 GATA4
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.92 TBX5 TBX20 TBX1 NKX2-5 MEF2C ISL1
5 transcription factor binding GO:0008134 9.91 ZFPM2 TBX5 NKX2-5 MEF2C HAND2 GATA6
6 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.81 ZFHX3 TBX5 TBX20 NKX2-5 MEF2C ISL1
7 transcription regulatory region DNA binding GO:0044212 9.8 ZFHX3 NKX2-5 MEF2C HAND2 GATA6 GATA5
8 RNA polymerase II activating transcription factor binding GO:0001102 9.76 TBX5 TBX20 TBX1 ISL1
9 RNA polymerase II transcription factor binding GO:0001085 9.7 ZFPM2 TBX20 GATA4
10 activating transcription factor binding GO:0033613 9.69 MEF2C HAND2 GATA4
11 enhancer sequence-specific DNA binding GO:0001158 9.67 ISL1 GATA5 GATA4
12 sequence-specific DNA binding GO:0043565 9.65 ZFHX3 TBX5 TBX1 NKX2-5 MEF2C ISL1
13 AT DNA binding GO:0003680 9.54 MEF2C HAND2
14 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.4 ZFPM2 ZFHX3 TBX5 TBX20 TBX1 NKX2-5

Sources for Heart Septal Defect

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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