MCID: HRT011
MIFTS: 51

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 870)
# 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 hypoplastic left heart syndrome 32.2 TBX5 TBX20 TBX1 NKX2-5 MYH6 ISL1
16 atrioventricular block 32.1 TBX5 NKX2-5 GJA5 GATA4
17 dextro-looped transposition of the great arteries 32.1 TBX5 NKX2-5 GATA4 CRELD1 CFC1
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 wolff-parkinson-white syndrome 31.0 TBX5 TBX20 NKX2-5 MYH6 GJA5
32 heart valve disease 31.0 NKX2-5 MYH6 MIR423 MIR199A1 GATA4
33 left ventricular noncompaction 30.9 TBX5 TBX20 NKX2-5 MYH6 GJA5 GATA4
34 ebstein anomaly 30.8 ZFPM2 TBX5 TBX20 NKX2-5 MYH6 HAND2
35 aortic valve disease 1 30.8 TBX5 TBX20 TBX1 NKX2-5 MYH6 MIR423
36 diaphragmatic hernia, congenital 30.6 ZFPM2 GATA6 GATA4
37 mitral valve insufficiency 30.6 TBX5 MYH6 MIR423
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 brugada syndrome 30.2 TBX5 NKX2-5 MYH6 GJA5
44 heart disease 30.1 ZFHX3 TBX5 TBX20 TBX1 PRODH NKX2-5
45 patent ductus arteriosus 1 30.1 TBX5 TBX20 TBX1 PRODH NKX2-5 MYH6
46 chromosomal disease 30.0 TBX1 PRODH CRELD1
47 patent foramen ovale 29.8 TBX5 TBX20 TBX1 NKX2-5 MYH6 HAND2
48 tetralogy of fallot 29.3 ZFPM2 TBX5 TBX20 TBX1 PRODH NKX2-5
49 atrial septal defect 7 with or without atrioventricular conduction defects 12.8
50 atrioventricular septal defect 4 12.7

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:

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 5311068 68602
3
Clopidogrel Approved Phase 4 113665-84-2, 120202-66-6 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
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
8
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
9 Excitatory Amino Acid Antagonists Phase 4
10 Excitatory Amino Acids Phase 4
11 Anesthetics, General Phase 4
12 Anesthetics, Intravenous Phase 4
13 Anesthetics, Dissociative 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 Epinephryl borate Phase 4
24 Carticaine 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
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
32
Enalaprilat Approved Phase 3 76420-72-9 6917719
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 Platelet Aggregation Inhibitors Phase 3
40 Antipyretics Phase 3
41 Anti-Inflammatory Agents, Non-Steroidal 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 HIV Protease Inhibitors Phase 3
48
protease inhibitors Phase 3
49 Angiotensin-Converting Enzyme Inhibitors Phase 3
50 Antihypertensive Agents 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)/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 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
16 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
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 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 When Are Parents Helpful? A Randomized Clinical Trial of the Efficacy of Maternal Sound for Pediatric Patients Undergoing Cardiac Surgery Completed NCT02674126 Phase 2
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, Endothelial, Kidney

Publications for Heart Septal Defect

Articles related to Heart Septal Defect:

(show top 50) (show all 19691)
# Title Authors PMID Year
1
GATA4 sequence variants in patients with congenital heart disease. 61 54
18055909 2007
2
Spectrum of heart disease associated with murine and human GATA4 mutation. 54 61
17643447 2007
3
Using the Arm for Structural Interventions: Case Selection or Wave of the Future. 61
31733742 2020
4
Beyond atrial septal defect closure, it is time to start seriously considering closing ventricular septal defects with devices. 61
31652133 2020
5
Impact of facilities accredited by both adult and pediatric cardiology societies on the outcome of patients with adult congenital heart disease. 61
31421934 2020
6
Failure of Cellularization of Ventriculotomy Patch Leading to Right Ventricular Pseudoaneurysm. 61
31755355 2020
7
Outcomes of Multistage Palliation of Infants With Single Ventricle and Atrioventricular Septal Defect. 61
31835983 2020
8
Rare Association Between Atrioventricular Septal Defect and Partial Anomalous Pulmonary Venous Connection. 61
31364828 2020
9
Diagnostic Reference Levels, Deterministic and Stochastic Risks in Pediatric Interventional Cardiology Procedures. 61
31764423 2020
10
Undiagnosed inferior vena cava type of sinus venosus atrial septal defect in a middle-aged woman: A rare case report. 61
31364173 2020
11
Progression of Aortic Regurgitation After Subarterial Ventricular Septal Defect Repair: Optimal Timing of the Operation. 61
31520096 2019
12
Risk factors for adverse events within one year after atrial septal closure in children: a retrospective follow-up study. 61
31847927 2019
13
Surgical experience with cor triatriatum repair beyond infancy. 61
31478235 2019
14
The Organ-Protective Effect of Higher Partial Pressure of Arterial Carbon Dioxide in the Normal Range for Infant Patients Undergoing Ventricular Septal Defect Repair. 61
31844927 2019
15
A unique indication for the senning procedure: Atrioventricular discordance with ventriculoarterial concordance. 61
31793037 2019
16
Screening for congenital heart disease in a Singapore neonatal unit. 61
31820009 2019
17
Pericardial tamponade due to erosion of a Figulla Flex II device after closure of an atrial septal defect. 61
31194277 2019
18
Torque device suture technique to achieve hemostasis in large-bore venous access. 61
31854083 2019
19
Steps Forward in Minimally Invasive Cardiac Surgery: 10-Year Experience. 61
31233725 2019
20
Novel JAG1 Deletion Variant in Patient with Atypical Alagille Syndrome. 61
31835735 2019
21
Results of a phase 1 multicentre investigation of dexmedetomidine bolus and infusion in corrective infant cardiac surgery. 61
31623840 2019
22
Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability. 61
31687266 2019
23
Pseudoaneurysm of the aortic arch early after coarctation repair in the neonatal period. 61
31840633 2019
24
Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan. 61
31837205 2019
25
Clinical and postmortem findings of pentalogy of Fallot in an 18-month-old Holstein heifer. 61
31582644 2019
26
Schizencephaly accompanied by occipital encephalocele and deletion of chromosome 22q13.32: a case report. 61
31130048 2019
27
Double Orifice Mitral Valve in Tricuspid Atresia: A Rare Association. 61
31506732 2019
28
Left bundle branch pacing, the only feasible physiological pacing modality for a patient with complete atrioventricular septal defect after surgical correction. 61
31670426 2019
29
[Para valvular leak closure in TAVI]. 61
31733689 2019
30
Intrahepatic persistent fetal right umbilical vein: a retrospective study. 61
31842642 2019
31
Uric acid and sphingomyelin enhance autophagy in iPS cell-originated cardiomyocytes through lncRNA MEG3/miR-7-5p/EGFR axis. 61
31559872 2019
32
Double-chambered Right Ventricle in Children. 61
31839094 2019
33
A 31-year-old pericardial textiloma. 61
31815276 2019
34
The Prevalence of the Double-Barrel View with Prominent Eustachian Valve in Patients with Atrial Septal Defect. 61
31619370 2019
35
P wave dispersion in assessment of dysrhythmia risk in patients with secundum type atrial septal defect and the effect of transcatheter or surgical closure. 61
31854289 2019
36
Transcatheter repair of superior sinus venosus atrial septal defect with partial anomalous pulmonary venous drainage with the chimney double stent technique. 61
31495775 2019
37
Juvenile Central Retinal Artery Occlusion Associated With Atrial Septal Defect. 61
31821511 2019
38
Spontaneous closure of muscular ventricular septal defect by growth of right ventricular muscle bundles: a rare mechanism. 61
31840623 2019
39
Pseudoaneurysm of the Ascending Aorta at the Cannulation Site Diagnosed More Than Four Decades After Repair of Ventricular Septal Defect. 61
31699357 2019
40
Giant right atrial aneurysm with atrial fibrillation. 61
31705819 2019
41
A simple method to remove a remnant sewing needle from the posterior pericardial cavity without cardiac arrest. 61
31705808 2019
42
Effect of Atrial Septal Defect in Adults on Work Participation (from a Nation Wide Register-Based Follow-Up Study Regarding Work Participation and Use of Permanent Social Security Benefits). 61
31590912 2019
43
Pentalogy of Fallot: A case report and overview dental implications. 61
31794068 2019
44
Ultrahigh-density mapping supplemented with global chamber activation identifies noncavotricuspid-dependent intra-atrial re-entry conduction isthmuses in adult congenital heart disease. 61
31646694 2019
45
Acute Change in Ventricular Contractility-Load Coupling After Corrective Surgery for Congenital Heart Defect: A Retrospective Cohort Study. 61
31482237 2019
46
Redo Valve-Sparing Root Replacement for Delayed Cusp Derangement From Ventricular Septal Defect. 61
30986415 2019
47
A novel de novo PDE4D gene mutation identified in a Chinese patient with acrodysostosis. 61
31520578 2019
48
Iatrogenic atrial septal defect closure after transseptal mitral valve interventions: Indications and outcomes. 61
31001927 2019
49
High-risk closure of atrial septal defect type II in a patient with pulmonary hypertension. 61
31575847 2019
50
Impact of Pulmonary Hypertension on Survival Following Device Closure of Atrial Septal Defects. 61
31481180 2019

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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