Patent Foramen Ovale (OSASD)

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Patent Foramen Ovale

MalaCards integrated aliases for Patent Foramen Ovale:

Name: Patent Foramen Ovale 12 29 6 15
Foramen Ovale, Patent 43 71
Foramen Ovale Patent 12 54
Defect, Patent or Persistent, Ostium Secundum 12
Atrial Septal Defect, Ostium Secundum Type 58
Ostium Secundum Type Atrial Septal Defect 12
Atrial Septal Defect Within Oval Fossa 12
Ostium Secundum Atrial Septal Defect 52
Persistent Ostium Secundum 12
Asd, Ostium Secundum Type 58
Asd Ostium Secundum Type 52
Ostium Secundum Asd 52
Osasd 52


Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis

External Ids:

Disease Ontology 12 DOID:13620
MeSH 43 D054092
NCIt 49 C34619
SNOMED-CT 67 204317008
ICD10 32 Q21.1
ICD10 via Orphanet 33 Q21.1
UMLS via Orphanet 72 C0344724
Orphanet 58 ORPHA99103
UMLS 71 C0016522

Summaries for Patent Foramen Ovale

NIH Rare Diseases : 52 An ostium secundum atrial septal defect is a type of congenital heart defect called an atrial septal defect (ASD). An ASD is a hole in the wall (septum) between the two upper chambers of the heart (the atria). ASDs can be classified by location. An ostium secundum ASD is a hole in the center of the atrial septum. Normally, the right side of the heart pumps oxygen-poor blood to the lungs, while the left side pumps oxygen-rich blood to the body. An ASD allows blood from both sides to mix, causing the heart to work less efficiently. A small hole may not cause any symptoms or problems. A larger hole can eventually cause symptoms such as shortness of breath, respiratory infections, fainting, irregular heart rhythms or fatigue after mild activity. Larger ASDs can also ultimately lead to pulmonary artery hypertension , right ventricular hypertrophy (enlargement); SVT , or heart failure. Most cases of ASD are not inherited and occur by chance. Some cases appear to have autosomal dominant inheritance. Treatment may not be needed for small ASDs, which often close on their own. Larger ASDs are typically closed during childhood with open heart surgery or by cardiac catheterization .

MalaCards based summary : Patent Foramen Ovale, also known as foramen ovale, patent, is related to hypoplastic left heart syndrome and tricuspid atresia. An important gene associated with Patent Foramen Ovale is TBX5 (T-Box Transcription Factor 5), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Warfarin and Coagulants have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and lung, and related phenotypes are fatigue and dyspnea

Wikipedia : 74 Atrial septal defect (ASD) is a congenital heart defect in which blood flows between the atria (upper... more...

Related Diseases for Patent Foramen Ovale

Diseases related to Patent Foramen Ovale via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 414)
# Related Disease Score Top Affiliating Genes
1 hypoplastic left heart syndrome 33.9 TBX5 TBX20 NKX2-5 MYH6 GATA6 GATA4
2 tricuspid atresia 33.5 TBX5 TBX20 NKX2-5 GATA6 GATA4
3 pulmonary embolism 33.0 SERPINC1 MTHFR F5 F2 APOH
4 stroke, ischemic 32.9 SERPINC1 MTHFR F5 F2 APOH
5 thrombophilia due to thrombin defect 32.7 SERPINC1 MTHFR F5 F2 APOH
6 heart septal defect 32.6 TBX5 TBX20 PTPN11 NKX2-5 MYH6 GATA6
7 atrial heart septal defect 32.5 TLL1 TBX5 TBX20 SERPINC1 PTPN11 NKX2-5
8 migraine with aura 32.5 MTHFR F5 F2
9 thrombophilia 32.3 SERPINC1 MTHFR F5 F2 F12 APOH
10 endocarditis 32.3 SERPINC1 F2 APOH
11 atrial fibrillation 32.3 TBX5 SERPINC1 GATA6 F2
12 intracranial embolism 32.3 SERPINC1 F2
13 thrombosis 32.2 SERPINC1 MTHFR F5 F2 F12 APOH
14 cerebrovascular disease 32.1 MTHFR F5 F2 F12 APOH
15 retinal artery occlusion 32.1 SERPINC1 MTHFR F5 F2 APOH
16 branch retinal artery occlusion 32.1 SERPINC1 MTHFR F2
17 myocardial infarction 32.0 SERPINC1 MYH6 MTHFR GATA4 F5 F2
18 ventricular septal defect 32.0 TBX5 NKX2-5 GATA6 GATA4 CITED2 AAR2
19 patent ductus arteriosus 1 31.9 TBX5 TBX20 PTPN11 NKX2-5 MYH6 GATA6
20 pulmonary valve stenosis 31.9 TBX5 PTPN11 NKX2-5 GATA4
21 varicose veins 31.9 SERPINC1 MTHFR F5 F2
22 antiphospholipid syndrome 31.8 SERPINC1 MTHFR F5 F2 APOH
23 amaurosis fugax 31.8 MTHFR F5
24 protein s deficiency 31.8 SERPINC1 MTHFR F5 F2 APOH
25 may-thurner syndrome 31.8 F5 APOH
26 homocysteinemia 31.8 SERPINC1 MTHFR F5 F2 APOH
27 dextro-looped transposition of the great arteries 31.8 TBX5 NKX2-5 GATA4
28 heart disease 31.7 TBX5 TBX20 SERPINC1 PTPN11 NKX2-5 MYH6
29 vascular disease 31.7 SERPINC1 MTHFR F5 F2 APOH
30 mitral valve insufficiency 31.7 TBX5 MYH6 F2
31 thrombophilia due to activated protein c resistance 31.7 SERPINC1 MTHFR F5 F2 APOH
32 splenic infarction 31.7 SERPINC1 F2 APOH
33 venous insufficiency 31.6 MTHFR F5 F2
34 peripheral vascular disease 31.6 SERPINC1 MTHFR F5 F2
35 aortic valve disease 2 31.6 TBX5 NKX2-5 MYH6 GATA4
36 atrioventricular block 31.6 TBX5 NKX2-5 GATA4
37 spinal cord infarction 31.6 SERPINC1 MTHFR F5 F2 APOH
38 central retinal artery occlusion 31.6 SERPINC1 MTHFR F2
39 tetralogy of fallot 31.5 TBX5 TBX20 PTPN11 NKX2-5 MYH6 MTHFR
40 heart valve disease 31.5 NKX2-5 MYH6 F2 APOH
41 ebstein anomaly 31.5 TBX5 TBX20 NKX2-5 MYH6 GATA4 ACTC1
42 pre-eclampsia 31.5 SERPINC1 NSD1 MTHFR F5 F2 APOH
43 aortic valve disease 1 31.5 TBX5 TBX20 NKX2-5 MYH6 GATA6 GATA4
44 hypertrophic cardiomyopathy 31.4 PTPN11 NKX2-5 MYH6 GATA4 FLNC ACTC1
45 catastrophic antiphospholipid syndrome 31.4 MTHFR F5 APOH
46 sudden sensorineural hearing loss 31.4 SERPINC1 MTHFR F5 F2 APOH
47 ischemic colitis 31.4 SERPINC1 F5 F2 APOH
48 thrombophlebitis 31.3 SERPINC1 MTHFR F5 F2 APOH
49 pulmonary artery disease 31.3 SERPINC1 MTHFR F5 F2 APOH
50 protein c deficiency 31.3 SERPINC1 MTHFR F5 F2 APOH

Graphical network of the top 20 diseases related to Patent Foramen Ovale:

Diseases related to Patent Foramen Ovale

Symptoms & Phenotypes for Patent Foramen Ovale

Human phenotypes related to Patent Foramen Ovale:

58 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 58 Frequent (79-30%)
2 dyspnea 58 Occasional (29-5%)
3 arrhythmia 58 Occasional (29-5%)
4 congestive heart failure 58 Occasional (29-5%)
5 pulmonary arterial hypertension 58 Occasional (29-5%)
6 supraventricular arrhythmia 58 Occasional (29-5%)
7 mitral regurgitation 58 Occasional (29-5%)
8 transient ischemic attack 58 Very rare (<4-1%)
9 bundle branch block 58 Occasional (29-5%)
10 stroke 58 Very rare (<4-1%)
11 abnormal mitral valve morphology 58 Occasional (29-5%)
12 pedal edema 58 Occasional (29-5%)
13 syncope 58 Very rare (<4-1%)
14 atrial fibrillation 58 Occasional (29-5%)
15 pneumonia 58 Very rare (<4-1%)
16 cyanosis 58 Very rare (<4-1%)
17 tricuspid regurgitation 58 Occasional (29-5%)
18 exertional dyspnea 58 Frequent (79-30%)
19 first degree atrioventricular block 58 Occasional (29-5%)
20 recurrent bacterial infections 58 Very rare (<4-1%)
21 obstructive lung disease 58 Very rare (<4-1%)
22 breathing dysregulation 58 Occasional (29-5%)
23 left ventricular dysfunction 58 Occasional (29-5%)
24 palpitations 58 Frequent (79-30%)
25 left-to-right shunt 58 Very frequent (99-80%)
26 exercise intolerance 58 Frequent (79-30%)
27 increased pulmonary vascular resistance 58 Very rare (<4-1%)
28 right ventricular failure 58 Very rare (<4-1%)
29 right ventricular dilatation 58 Occasional (29-5%)
30 atrial flutter 58 Occasional (29-5%)
31 orthopnea 58 Occasional (29-5%)
32 supraventricular tachycardia 58 Occasional (29-5%)
33 right atrial enlargement 58 Frequent (79-30%)
34 st segment depression 58 Occasional (29-5%)
35 systolic heart murmur 58 Frequent (79-30%)

GenomeRNAi Phenotypes related to Patent Foramen Ovale according to GeneCards Suite gene sharing:

# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00249-S 9.36 CITED2 F12 F5 TLL1
2 Decreased viability GR00381-A-1 9.36 F12
3 Decreased viability GR00386-A-1 9.36 GATA6 MTHFR MYH6
4 Decreased viability GR00402-S-2 9.36 CFAP47 F12 TLL1

MGI Mouse Phenotypes related to Patent Foramen Ovale:

# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.33 ACTC1 APOH CITED2 F12 F2 F5
2 cardiovascular system MP:0005385 10.32 ACTC1 CITED2 F2 F5 FLNC GATA4
3 growth/size/body region MP:0005378 10.25 ACTC1 CITED2 F2 F5 FLNC GATA4
4 embryo MP:0005380 10.2 CITED2 F2 F5 GATA4 GATA6 NKX2-5
5 mortality/aging MP:0010768 10.19 ACTC1 APOH CITED2 F2 F5 FLNC
6 liver/biliary system MP:0005370 9.92 F5 GATA4 GATA6 MTHFR MYH6 PTPN11
7 limbs/digits/tail MP:0005371 9.91 CITED2 GATA4 GATA6 MTHFR PTPN11 TBX5
8 muscle MP:0005369 9.85 ACTC1 FLNC GATA4 GATA6 MYH6 NKX2-5
9 normal MP:0002873 9.65 ACTC1 CITED2 F12 F2 GATA4 GATA6
10 respiratory system MP:0005388 9.23 CITED2 F2 FLNC GATA4 GATA6 MYH6

Drugs & Therapeutics for Patent Foramen Ovale

Drugs for Patent Foramen Ovale (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 70)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Warfarin Approved Phase 4 81-81-2 6691 54678486
2 Coagulants Phase 4
3 Anticoagulants Phase 4
Dipyridamole Approved Phase 3 58-32-2 3108
Apixaban Approved Phase 3 503612-47-3 10182969
Rivaroxaban Approved Phase 3 366789-02-8
Dabigatran Investigational Phase 3 211914-51-1
8 Aspirin, Dipyridamole Drug Combination Phase 3
9 Antithrombins Phase 3
10 Antithrombin III Phase 3
11 Serine Proteinase Inhibitors Phase 3
protease inhibitors Phase 3
13 Factor Xa Inhibitors Phase 3
14 HIV Protease Inhibitors Phase 3
15 Antivitamins K Phase 3
16 Pharmaceutical Solutions Phase 3
Serine Investigational, Nutraceutical Phase 3 56-45-1 5951
Heparin Approved, Investigational Phase 2 9005-49-6 46507594 772
Dalteparin Approved Phase 2 9005-49-6
Tinzaparin Approved Phase 2 9041-08-1, 9005-49-6 25244225
Polidocanol Approved Phase 2 9002-92-0
22 calcium heparin Phase 2
23 Antidepressive Agents Phase 2
24 Heparin, Low-Molecular-Weight Phase 2
25 Anticonvulsants Phase 2
26 Calcium, Dietary Phase 2
27 Sclerosing Solutions Phase 2
Calcium Nutraceutical Phase 2 7440-70-2 271
tannic acid Approved 1401-55-4
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
Aspirin Approved, Vet_approved 50-78-2 2244
Clopidogrel Approved 113665-84-2, 120202-66-6 60606
Tocopherol Approved, Investigational 1406-66-2, 54-28-4 14986
Sodium citrate Approved, Investigational Early Phase 1 68-04-2
35 Kava Approved, Investigational, Nutraceutical 9000-38-8
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
Vitamin C Approved, Nutraceutical 50-81-7 5785 54670067
Citric acid Approved, Nutraceutical, Vet_approved Early Phase 1 77-92-9 311
N,N-dimethylarginine Experimental 30315-93-6 123831
40 Tocotrienol Investigational 6829-55-6
41 Anesthetics
42 Natriuretic Peptide, Brain
43 Fibrinolytic Agents
44 Analgesics, Non-Narcotic
45 Analgesics
46 Cyclooxygenase Inhibitors
47 Platelet Aggregation Inhibitors
48 Anti-Inflammatory Agents
49 Antipyretics
50 Antirheumatic Agents

Interventional clinical trials:

(show top 50) (show all 98)
# 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 Device Closure Versus Medical Therapy for Secondary Prevention in Cryptogenic Stroke Patients With High-Risk Patent Foramen Ovale : DEFENSE-PFO Unknown status NCT01550588 Phase 4 Standard medical treatment
3 Patent Foramen Ovale in Cryptogenic Stroke Study Completed NCT00697151 Phase 4 Warfarin;Aspirin
4 Interventional Left Atrial Appendage Closure vs. Novel Anticoagulation Agents in High-risk Patients With Atrial Fibrillation (PRAGUE-17 Study) Recruiting NCT02426944 Phase 4 NOAC
5 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
6 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
7 Closure of Patent Foramen Ovale or Anticoagulants Versus Antiplatelet Therapy to Prevent Stroke Recurrence Completed NCT00562289 Phase 3 aspirin;Antivitamins K or rivaroxaban or dabigatran or apixaban
8 Medtronic Concomitant Utilization of Radio Frequency Energy for Atrial Fibrillation (CURE-AF)/Permanent Study Completed NCT00431834 Phase 3
9 Medtronic Concomitant Utilization of Radio Frequency Energy for Atrial Fibrillation (CURE-AF)/Persistent Study Completed NCT00506493 Phase 3
10 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
11 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.
12 FDS-0004 Cardiox Shunt Detection Technology Study Terminated NCT01333761 Phase 3
13 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
14 Precutaneous High Risk Patent Foramen Ovale to Treat Migraine Headaches:A Prospective,Multicenter,Randomized,Controlled Trial Unknown status NCT02777359 Phase 2
15 Exclusion of the Left Atrial Appendage With the LAAx, Inc., TigerPaw™ System During Elective, Non-Endoscopic Cardiac Surgery Procedures Unknown status NCT00962702 Phase 2
16 Prospective, Randomized Investigation to Evaluate Incidence of Headache Reduction in Subjects With Migraine and PFO Using the AMPLATZER PFO Occluder to Medical Management. Completed NCT00355056 Phase 2
17 An Open Label Multicenter Safety Study of the Varisolve® Procedure for the Treatment of Varicose Veins in Patients With Right-to-left Cardiac Shunt Completed NCT00442364 Phase 2 Polidocanol (1%) Microfoam (Varisolve)
18 Percutaneous Closure of Patent Foramen Ovale In Migraine With Aura - A Randomized Prospective Study (Prima Trial) Terminated NCT00505570 Phase 2
19 Compassionate Use of Catheter Thrombectomy (Aspirex 11F) in Patients With Massive Pulmonary Embolism Terminated NCT00314002 Phase 1, Phase 2
20 PARADOX Trial: A Prospective, Double-Blind, Randomized Controlled Trial in Patients With Patent Foramen Ovale and Endocardial Device Leads on Apixaban for Prevention of Paradoxical Emboli Withdrawn NCT02378623 Phase 2 Apixaban;Placebo
21 Influence of Position on Detection of Patent Foramen Ovale by Simultaneous Transesophageal Echo and Transcranial Doppler Unknown status NCT02383836
22 Occluder Size Determination in Transcatheter Closure of Ostium Secundum Atrial Septal Defect Based on Three-Dimensional Echocardiography Assessment Unknown status NCT02601768
23 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
24 Feasibility Study of the PFX Closure System in Subjects With Cryptogenic Stroke, Transient Ischemia Attack or Paradoxical Embolism Unknown status NCT00196027
25 Timing of Closure of Patent Foramen Ovale and Patent Ductus Arteriosus Following Birth Unknown status NCT01032785
26 Prospective Clinical Follow-up of Patients Presenting With Cryptogenic Stroke Treated With the Percutaneous Closure of a Patent Foramen Ovale Unknown status NCT01149447
27 PFO Closure for Obstructive Sleep Apnoea-1 Study Unknown status NCT02771561
28 Clinical Proteomic Research on the Brain Unknown status NCT00983723
29 Emergency/Compassionate Use PFO Occluder Approved for marketing NCT00584064
30 Effectiveness and Safety of Transcatheter Patent Foramen Ovale Closure for Migraine Completed NCT02127294
31 Patent Foramen Ovale Closure Reduce in SCUBA-divers Completed NCT03997084
32 Feasibility Study of the PFX Closure System in Subjects With Cryptogenic Stroke, Transient Ischemic Attack, Migraine or Decompression Illness Completed NCT00196040
33 Prospective Multicenter Clinical Study to Evaluate the Safety and Effectiveness of an Intracardiac Septal Closure Device in Patients With Atrial Septum Defect (ASD) and Patent Foramen Ovale (PFO) Completed NCT00207376
34 Patent Foramen Ovale and the Risk of Postoperative Delirium Following Elective Hip and Knee Arthroplasty Surgeries Completed NCT02400892
35 Silent Cerebral Infarcts in Patients With Pulmonary Embolism and a Patent Foramen Ovale: a Prospective Diffusion-weighted Magnetic Resonance Imaging Study. Completed NCT00831259
36 Impact Of Closure Of Patent Foramen Ovale On Apnoea-Hypopnoea-Index, Nocturnal Hypoxemia And Systemic Vascular Function In Patients With Obstructive Sleep Apnoea Completed NCT01780207
37 Is There a Link Between Venous Thromboembolism and Stroke in Patient With Patent Foramen Ovale ? Research for Stroke in Hospitalized Patients With Pulmonary Embolism. Completed NCT01216423
38 Prospective Single Center Pilot Clinical Study to Evaluate the Safety and Effectiveness of an Intracardiac Septal Closure Device With Biodegradable Framework in Patients With Clinically Significant Atrial Septum Defect (ASD) or Patent Foramen Ovale (PFO) Completed NCT01960491
39 Correlation of Right-left Shunt Detection in Cardioembolism Etiology in Stroke Patient. Pilot Study. Completed NCT02351076
40 Single-center Non-comparative, Prospective Interventional Clinical Investigation on the Procedural Success and Safety of the Nit-Occlud® PFO Closure Device and Its Application System. Completed NCT00968032
41 Patent Foramen Ovale in Children With Migraine Headaches Completed NCT00750594
42 GORE® HELEX® Septal Occluder / GORE® CARDIOFORM Septal Occluder and Antiplatelet Medical Management for Reduction of Recurrent Stroke or Imaging-Confirmed TIA in Patients With Patent Foramen Ovale (PFO) - The Gore REDUCE Clinical Study Completed NCT00738894 Antiplatelet Medical Therapy
43 Nitrogen Bubble Detection After Simulated Dives in Divers With PFO and After PFO Closure Completed NCT01854281
44 Post Market Clinical Follow-up Study of IrisFITTM PFO (Patent Foramen Ovale) Completed NCT02882815
45 Multi-center, Prospective, Post-market Study Completed NCT02621528
46 The Effect on Endothelial Progenitor Cells (EPCs) by Successful Cardiac Occlusion Device Implantation Completed NCT02957201
47 Residual Shunt After Patent Foramen Ovale Device Closure in Patients With Cryptogenic Stroke: Serial Bubble Contrast Transesophageal Echocardiography Data Completed NCT03416426
48 Comorbidities Associated With Migraine and Patent Foramen Ovale (CAMP) Completed NCT01257880
49 Biomarkers, Hemodynamic and Echocardiographic Predictors of Ischemic Strokes and Their Influence on the Course and Prognosis Completed NCT03377465
50 GORE® Septal Occluder Clinical Study: A Study to Evaluate Safety and Efficacy in the Treatment of Transcatheter Closure of Ostium Secundum Atrial Septal Defects (ASDs) Completed NCT01711983

Search NIH Clinical Center for Patent Foramen Ovale

Cochrane evidence based reviews: foramen ovale, patent

Genetic Tests for Patent Foramen Ovale

Genetic tests related to Patent Foramen Ovale:

# Genetic test Affiliating Genes
1 Patent Foramen Ovale 29

Anatomical Context for Patent Foramen Ovale

MalaCards organs/tissues related to Patent Foramen Ovale:

Heart, Brain, Lung, Testes, Liver, Endothelial, Spinal Cord

Publications for Patent Foramen Ovale

Articles related to Patent Foramen Ovale:

(show top 50) (show all 4943)
# Title Authors PMID Year
Mutations in the NKX2-5 gene in patients with stroke and patent foramen ovale. 61 54
19464101 2009
Cases from the aerospace medicine residents' teaching file. Transient ischemic attack in an aviator with patent foramen ovale and Factor V Leiden. 54 61
14692478 2003
Factor V Leiden and prothrombin gene mutation may predispose to paradoxical embolism in subjects with patent foramen ovale. 54 61
12695749 2003
Factor V Leiden mutation and patent foramen ovale in ischemic stroke. 61 54
12522679 2002
A fluorescein angiographic study of branch retinal artery occlusion (BRAO) - the retrograde filling of occluded vessels. 61 54
10611053 1999
Emerging risk factors for stroke: patent foramen ovale, proximal aortic atherosclerosis, antiphospholipid antibodies, and activated protein C resistance. 54 61
17894989 1997
Acute Limb Ischemia Secondary to Patent Foramen Ovale-Mediated Paradoxical Embolism: A Case Report and Systematic Review of the Literature. 61
31904517 2020
[A strange case of acute respiratory failure: the platypnea-orthodeoxia syndrome]. 61
32555575 2020
[Platypnea-orthodeoxia syndrome associated with patent foramen ovale and aortic root aneurysm]. 61
32555576 2020
Paradoxical embolism through a patent foramen ovale from central venous catheter thrombosis: A potential cause of stroke. 61
32276106 2020
Cerebral vasomotor reactivity in migraine: effect of patent foramen ovale and aerogenic microembolism. 61
32496894 2020
Standing on the ledge: atrial fibrillation ablation in patients with atrial septal closure devices. 61
32530537 2020
Fat embolism syndrome with cerebral fat embolism through a patent foramen ovale: A case report. 61
32541485 2020
Congenital left ventricular outpouching and patent foramen ovale: A potentially emboligenic combination. 61
29748096 2020
Catheter-directed therapies for pulmonary embolism: considerations for patients with patent foramen ovale. 61
32557222 2020
Transseptal puncture versus patent foramen ovale or atrial septal defect access for left atrial appendage closure. 61
31449043 2020
Patent foramen ovale-related complications in left ventricular assist device patients: a reappraisal for cardiovascular professionals. 61
31463532 2020
Residual Shunt After Patent Foramen Ovale Closure and Long-Term Stroke Recurrence: A Prospective Cohort Study. 61
32422058 2020
Cryptogenic stroke over 60 years of age: should patent foramen ovale be closed? 61
32523446 2020
Potential Role of 2-Phase Cardiac CT in Patients With Embolic Stroke of Undetermined Source. 61
31870665 2020
Platypnea-Orthodeoxia Syndrome: Rare or under-diagnosed syndrome? 3 case reports and a literature review. 61
32527601 2020
[Utility of transesophageal echocardiography for etiologic diagnosis of centrum ovale infarcts]. 61
32435046 2020
Diagnosis and Treatment for embolic stroke of undetermined source: Consensus statement from the Taiwan stroke society and Taiwan society of cardiology. 61
32534996 2020
Potential Embolic Sources and Outcomes in Embolic Stroke of Undetermined Source in the NAVIGATE-ESUS Trial. 61
32295509 2020
Endothelial Dysfunction May Link Interatrial Septal Abnormalities and MTHFR-Inherited Defects to Cryptogenic Stroke Predisposition. 61
32512924 2020
Patent foramen ovale. 61
32299831 2020
Acromicric dysplasia with stiff skin syndrome-like severe cutaneous presentation in an 8-year-old boy with a missense FBN1 mutation: Case report and literature review. 61
32406602 2020
Homozygous deletion of exons 2-7 within TGFB3 gene in a child with severe Loeys-Dietz syndrome and Marfan-like features. 61
32022420 2020
Migraine and Ischemic Stroke in Women. A Narrative Review. 61
32246455 2020
[Is there a relationship between white matter lesions associated with migraine and patent foramen ovale? Analysis of a series of patients with chronic migraine]. 61
32390130 2020
Impact of Patent Foramen Ovale on Total Knee Arthroplasty Cerebrovascular Accident Perioperative Management. 61
32077965 2020
Correlations between serum homocysteine levels and RoPE score in patients with patent foramen ovale. 61
31676957 2020
[Position dependent dyspnea and cyanosis of the lips at the daily round - A case of Platypnea-Orthodeoxia Syndrome]. 61
32349149 2020
Identification of multilevel right-to-left shunting in a dog using nuclear scintigraphy imaging. 61
32574980 2020
Acute cerebral infarction with acute myocardial infarction due to patent foramen ovale: A case report. 61
32384468 2020
Early Outcomes of Surgery for Carcinoid Heart Disease. 61
31383543 2020
Recurrent cerebrovascular events in patients after percutaneous closure of patent foramen ovale. 61
32430239 2020
Surgical vs. drug therapy in patients with patent foramen ovale and cryptogenic stroke. 61
32394019 2020
Clinical RoPE (cRoPE) score predicts patent foramen ovale detection among stroke patients: a multicenter observational study. 61
32388644 2020
Atrial Septal Aneurysm, Shunt Size, and Recurrent Stroke Risk in Patients With Patent Foramen Ovale. 61
32381162 2020
Serial Shunt Evaluation Reveals Limitations of Contemporary Screening Studies for Patent Foramen Ovale. 61
32438998 2020
Low incidence of atrial septal defects in nonmammalian vertebrates. 61
31597012 2020
Structural heart intervention for prevention of embolic and hemorrhagic stroke: The new field of neurocardiology. 61
32482326 2020
Aortic root dilatation in PFO-related cryptogenic stroke: A propensity score-matched analysis. 61
32449845 2020
[Platypnea-orthodeoxia syndrome: a neglected cause of dyspnea?] 61
32390126 2020
Previously Undiagnosed Patent Foramen Ovale as Cause of Hypotension and Hypoxemia in a Patient With Recent TandemHeart LVAD Insertion. 61
32540243 2020
Practice advisory update summary: Patent foramen ovale and secondary stroke prevention: Report of the Guideline Subcommittee of the American Academy of Neurology. 61
32350058 2020
Cannula migration through an undiagnosed patent foramen ovale and embolic cerebrovascular accident in a patient with femoral venoarterial extracorporeal membrane oxygenation. 61
32383280 2020
Ultra-high pre-membrane lung oxygen saturation in a patient on veno-arterial extracorporeal membrane oxygenation. 61
31526097 2020
Transthoracic echocardiography features of adult-type anomalous left coronary artery from the pulmonary artery before and after surgery: highlights from observational study in a single center of China. 61
32328871 2020

Variations for Patent Foramen Ovale

ClinVar genetic disease variations for Patent Foramen Ovale:

6 (show all 15) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBX5 NM_000192.3(TBX5):c.1221C>G (p.Tyr407Ter)SNV Pathogenic 495227 rs1555223259 12:114793673-114793673 12:114355868-114355868
2 PTPN11 NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)SNV Pathogenic 13329 rs121918460 12:112888168-112888168 12:112450364-112450364
3 NSD1 NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter)SNV Pathogenic 159315 rs587784105 5:176662864-176662864 5:177235863-177235863
4 FLNC NM_001127487.2(FLNC):c.7463-15_7538delinsGAGGindel Pathogenic 599235 rs1563005360 7:128497157-128497247 7:128857103-128857193
5 TAB2 NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter)SNV Likely pathogenic 373443 rs1057518422 6:149700090-149700090 6:149378954-149378954
6 AAR2 NM_001271874.2(AAR2):c.520G>A (p.Val174Met)SNV Likely pathogenic 242897 rs746800707 20:34828310-34828310 20:36240388-36240388
7 46;X;t(Y;16)(q11.23;p11.2);t(6;21)(p21.3;p13)dnTranslocation Likely pathogenic 267834
8 46;XX;inv(7)(q21.2q34)inversion Likely pathogenic 267968
9 FGF14 NM_004115.3(FGF14):c.486dup (p.Arg163fs)duplication Likely pathogenic 598976 rs1566823361 13:102379082-102379083 13:101726732-101726733
10 PKD1 NM_001009944.3(PKD1):c.226C>T (p.His76Tyr)SNV Uncertain significance 523385 rs932577597 16:2169369-2169369 16:2119368-2119368
11 RNF213 NM_001256071.3(RNF213):c.11659A>G (p.Lys3887Glu)SNV Uncertain significance 523426 rs1555673862 17:78337499-78337499 17:80363699-80363699
12 46;XY;t(18;20)(q21.1;p11.23)dnTranslocation Uncertain significance 268042
13 TBXAS1 GRCh37/hg19 7q34(chr7:139478979-139550968)copy number gain Uncertain significance 638674 7:139478979-139550968
14 GABRG3 GRCh37/hg19 15q12(chr15:27462869-27544157)copy number gain Uncertain significance 638675 15:27462869-27544157
15 TRPM4 NM_017636.4(TRPM4):c.1376G>A (p.Arg459His)SNV Likely benign 468927 rs142312281 19:49685947-49685947 19:49182690-49182690

Expression for Patent Foramen Ovale

Search GEO for disease gene expression data for Patent Foramen Ovale.

Pathways for Patent Foramen Ovale

GO Terms for Patent Foramen Ovale

Cellular components related to Patent Foramen Ovale according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.1 TBX5 TBX20 NKX2-5 GATA6 GATA4 CITED2

Biological processes related to Patent Foramen Ovale according to GeneCards Suite gene sharing:

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 10.1 TBX5 TBX20 NSD1 NKX2-5 GATA6 CITED2
2 positive regulation of transcription, DNA-templated GO:0045893 10.05 TBX5 TBX20 NSD1 NKX2-5 GATA6 GATA4
3 response to drug GO:0042493 9.96 MTHFR GATA6 GATA4 ACTC1
4 heart development GO:0007507 9.93 TBX5 PTPN11 NKX2-5 CITED2
5 cellular protein metabolic process GO:0044267 9.91 SERPINC1 GATA6 F5 F2
6 male gonad development GO:0008584 9.83 GATA6 GATA4 CITED2
7 vasculogenesis GO:0001570 9.77 TBX20 NKX2-5 CITED2
8 outflow tract morphogenesis GO:0003151 9.77 TBX20 NKX2-5 CITED2
9 cardiac muscle contraction GO:0060048 9.76 NKX2-5 MYH6 ACTC1
10 heart looping GO:0001947 9.76 TBX20 NKX2-5 GATA4 CITED2
11 positive regulation of cardiac muscle cell proliferation GO:0060045 9.74 TBX5 TBX20 GATA6
12 ventricular septum development GO:0003281 9.73 TBX5 GATA4 CITED2
13 blood coagulation GO:0007596 9.73 SERPINC1 GATA6 GATA4 F5 F2 F12
14 outflow tract septum morphogenesis GO:0003148 9.71 TBX20 NKX2-5 GATA6
15 cardiac muscle tissue development GO:0048738 9.7 NKX2-5 GATA6 GATA4
16 blood coagulation, intrinsic pathway GO:0007597 9.67 F2 F12 APOH
17 heart contraction GO:0060047 9.65 NKX2-5 ACTC1
18 cardiac muscle hypertrophy in response to stress GO:0014898 9.65 MYH6 GATA6
19 cardiac muscle tissue morphogenesis GO:0055008 9.65 TBX20 NKX2-5 ACTC1
20 adult heart development GO:0007512 9.64 NKX2-5 MYH6
21 cardiac right ventricle morphogenesis GO:0003215 9.64 TBX20 GATA4
22 negative regulation of fibrinolysis GO:0051918 9.62 F2 APOH
23 cardiac ventricle morphogenesis GO:0003208 9.62 NKX2-5 GATA4
24 hemostasis GO:0007599 9.62 SERPINC1 F5 F2 F12
25 intestinal epithelial cell differentiation GO:0060575 9.61 GATA6 GATA4
26 positive regulation of blood coagulation GO:0030194 9.61 F2 F12 APOH
27 embryonic heart tube left/right pattern formation GO:0060971 9.58 NKX2-5 CITED2
28 regulation of blood coagulation GO:0030193 9.58 SERPINC1 F2 APOH
29 bundle of His development GO:0003166 9.55 TBX5 NKX2-5
30 endocardial cushion development GO:0003197 9.54 TBX5 GATA4 CITED2
31 cardiac muscle cell differentiation GO:0055007 9.46 TBX5 NKX2-5 GATA6 GATA4
32 atrial septum morphogenesis GO:0060413 9.26 TBX5 TBX20 NKX2-5 GATA4
33 positive regulation of cardioblast differentiation GO:0051891 8.92 TBX5 NKX2-5 GATA6 GATA4

Molecular functions related to Patent Foramen Ovale according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II activating transcription factor binding GO:0001102 9.13 TBX5 TBX20 CITED2
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.1 TBX5 TBX20 NSD1 NKX2-5 GATA6 GATA4

Sources for Patent Foramen Ovale

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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