PAVM
MCID: PLM052
MIFTS: 34

Pulmonary Arteriovenous Malformation (PAVM) malady

Categories: Rare diseases

Aliases & Classifications for Pulmonary Arteriovenous Malformation

Aliases & Descriptions for Pulmonary Arteriovenous Malformation:

Name: Pulmonary Arteriovenous Malformation 50
Arteriovenous Malformation, Pulmonary 50 29
Pulmonary Arteriovenous Fistula 50
Pulmonary Avm 50
Pavm 50

Classifications:



Summaries for Pulmonary Arteriovenous Malformation

NIH Rare Diseases : 50 pulmonary arteriovenous malformation (pavm) is a condition that affects blood flow between the heart and the lungs. affected people have an abnormal connection between the pulmonary vein (carries blood from the lungs to the heart) and pulmonary artery (carries blood from the heart to the lungs). as a result, blood may not be properly oxygenated by the lungs. some affected people may have no signs or symptoms of the condition. when present, symptoms may include difficulty breathing, nosebleeds, shortness of breath, difficulty exercising, and blue skin. most people with pavm have an inherited condition called hereditary hemorrhagic telangiectasia, which is inherited in an autosomal dominant manner. other conditions that are less commonly associated with pavm include liver disease (mainly liver cirrhosis), certain forms of congenital heart disease, chronic infections, and metastatic thyroid cancer. treatment varies based on the severity of the condition and the associated signs and symptoms. when necessary, treatment typically includes embolization, surgery, and/or addressing associated conditions. last updated: 5/25/2016

MalaCards based summary : Pulmonary Arteriovenous Malformation, also known as arteriovenous malformation, pulmonary, is related to pulmonary arteriovenous fistulas and arteriovenous malformation. An important gene associated with Pulmonary Arteriovenous Malformation is ACVRL1 (Activin A Receptor Like Type 1), and among its related pathways/superpathways is TGF-beta Signaling Pathways. The drugs Bevacizumab and Iron have been mentioned in the context of this disorder. Affiliated tissues include liver, lung and heart.

Related Diseases for Pulmonary Arteriovenous Malformation

Diseases related to Pulmonary Arteriovenous Malformation via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 57)
id Related Disease Score Top Affiliating Genes
1 pulmonary arteriovenous fistulas 11.0
2 arteriovenous malformation 10.9
3 hereditary hemorrhagic telangiectasia 10.5
4 cerebritis 10.1
5 hepatitis 10.1
6 aneurysm 10.0
7 pulmonary surfactant protein b, deficiency of 9.9 ACVRL1 ENG
8 pulmonary venoocclusive disease 1 9.9 ACVRL1 ENG
9 patent foramen ovale 9.9
10 heterotaxy 9.9
11 x-linked leigh syndrome 9.9 ACVRL1 ENG
12 tooth erosion 9.9 ACVRL1 ENG
13 joubert syndrome and related disorders 9.9 ACVRL1 ENG
14 respiratory syncytial virus infectious disease 9.9 ACVRL1 ENG
15 weyers ulnar ray/oligodactyly syndrome 9.8 ACVRL1 ENG
16 sydenham chorea 9.8 ACVRL1 ENG
17 pulmonary embolism 9.8
18 pulmonary hypertension 9.8
19 liver cirrhosis 9.8
20 dyskeratosis congenita 9.8
21 weber syndrome 9.8
22 ischemia 9.8
23 tuberculosis 9.8
24 pituitary infarct 9.8 ACVRL1 ENG
25 human venous malformation 9.7 ACVRL1 ENG
26 pulmonary atresia with ventricular septal defect 9.7
27 ventricular septal defect 9.7
28 myocardial infarction 9.7
29 mediastinitis 9.7
30 lung cancer 9.7
31 constrictive pericarditis 9.7
32 exophthalmos 9.7
33 birt-hogg-dube syndrome 9.7
34 leiomyoma 9.7
35 telangiectasis 9.7
36 fasciitis 9.7
37 necrotizing fasciitis 9.7
38 angina pectoris 9.7
39 benign metastasizing leiomyoma 9.7
40 pneumothorax 9.7
41 chronic thromboembolic pulmonary hypertension 9.7
42 arteriovenous fistula 9.7
43 pericarditis 9.7
44 hemangioendothelioma 9.7
45 giant cell tumor 9.7
46 hemiplegic migraine 9.7
47 angiodysplasia 9.7
48 thrombosis 9.7
49 hyperammonemia 9.7
50 migraine with aura 9.7

Graphical network of the top 20 diseases related to Pulmonary Arteriovenous Malformation:



Diseases related to Pulmonary Arteriovenous Malformation

Symptoms & Phenotypes for Pulmonary Arteriovenous Malformation

Drugs & Therapeutics for Pulmonary Arteriovenous Malformation

Drugs for Pulmonary Arteriovenous Malformation (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 1, Phase 2 216974-75-3
2
Iron Approved Phase 2 7439-89-6 23925
3
Peginterferon alfa-2b Approved Phase 2 99210-65-8, 215647-85-1
4 Angiogenesis Inhibitors Phase 1, Phase 2
5 Angiogenesis Modulating Agents Phase 1, Phase 2
6 Liver Extracts Phase 2
7 interferons Phase 2
8 Anti-Infective Agents Phase 2
9 Interferon-alpha Phase 2
10 Antiviral Agents Phase 2
11
Pancrelipase Approved 53608-75-6
12 pancreatin

Interventional clinical trials:

(show all 17)
id Name Status NCT ID Phase
1 Treatment of Hereditary Hemorrhagic Telangiectasia of the Nasal Mucosa by Intranasal Bevacizumab : Search for Effective Dose Unknown status NCT02157987 Phase 1, Phase 2
2 Phase 2 Study of PEG-Intron in Hereditary Hemorrhagic Telangiectasia Terminated NCT00588146 Phase 2
3 Contrast Echocardiography in Patients With Pulmonary Arteriovenous Malformations (PAVMs) Unknown status NCT00733759
4 Investigation of Plasma Proteins in Patients With Hereditary Haemorrhagic Telangiectasia and PAVMs Unknown status NCT00230672
5 Studies of Hereditary Hemorrhagic Telangiectasia Completed NCT00004648
6 Retinal Arteriolar Abnormalities and CV Mortality Completed NCT00011167
7 Restrictive Versus Liberal Transfusion Protocol in Infants Undergoing Cardiac Surgery Completed NCT01484886
8 Reperfusion of Pulmonary Arteriovenous Malformations After Embolotherapy Recruiting NCT01856842
9 Cardiopulmonary Exercise Testing to Evaluate Pulmonary AVMs Recruiting NCT02436213
10 Case Notes Review on Patients With Hereditary Haemorrhagic Telangiectasia Recruiting NCT00230685
11 Graded TTCE for Post-Embolization PAVM Monitoring Recruiting NCT02936349
12 Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families Recruiting NCT00230620
13 Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia Recruiting NCT01158807
14 Molecular Determinants of Coronaruy Artery Disease Recruiting NCT00590291
15 Etiologies, Investigations and Outcomes of Patients Presenting With Hemoptysis Recruiting NCT02913365
16 RSSearch Patient Registry-Long Term Study of Use of SRS/SBRT Enrolling by invitation NCT01885299
17 Cardiopulmonary Exercise Testing to Evaluate Pulmonary AVMs With and Without Airflow Obstruction Not yet recruiting NCT02458703

Search NIH Clinical Center for Pulmonary Arteriovenous Malformation

Genetic Tests for Pulmonary Arteriovenous Malformation

Genetic tests related to Pulmonary Arteriovenous Malformation:

id Genetic test Affiliating Genes
1 Pulmonary Arteriovenous Malformation 29

Anatomical Context for Pulmonary Arteriovenous Malformation

MalaCards organs/tissues related to Pulmonary Arteriovenous Malformation:

39
Liver, Lung, Heart, Skin, Thyroid, Brain, Bone

Publications for Pulmonary Arteriovenous Malformation

Articles related to Pulmonary Arteriovenous Malformation:

(show top 50) (show all 305)
id Title Authors Year
1
A Survey of Pulmonary Arteriovenous Malformation Screening, Management, and Follow-Up in Hereditary Hemorrhagic Telangiectasia Centers of Excellence. ( 28188364 )
2017
2
Regarding "Amplatzer Vascular Plugs Versus Coils for Embolization of Pulmonary Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia". ( 27501797 )
2016
3
Amplatzer Vascular Plugs Versus Coils for Embolization of Pulmonary Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia. ( 27150804 )
2016
4
Pulmonary arteriovenous malformation in chronic thromboembolic pulmonary hypertension. ( 27413264 )
2016
5
Salvage pneumonectomy for pulmonary arteriovenous malformation in a 12-year-old boy with brain abscess and hemiparesis: A fatal outcome. ( 27051111 )
2016
6
Reply to Letter Regarding "Amplatzer Vascular Plugs Versus Coils for Embolization of Pulmonary Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia". ( 27506772 )
2016
7
Hereditary hemorrhagic telangiectasia patient presenting with brain abscess due to silent pulmonary arteriovenous malformation. ( 28292107 )
2016
8
Regression of a Pulmonary Arteriovenous Malformation after Acute Interstitial Nephritis. ( 27250058 )
2016
9
Isolated asymptomatic pulmonary arteriovenous malformation presenting with ischaemic stroke. ( 26896908 )
2016
10
Pulmonary arteriovenous malformation (PAVM) reperfusion after percutaneous embolization: Sensitivity and specificity of non-enhanced CT. ( 26724660 )
2016
11
Wake-Up Call: Pulmonary Arteriovenous Malformation. ( 27888050 )
2016
12
Feasibility of Non-contrast-enhanced MR Angiography Using the Time-SLIP Technique for the Assessment of Pulmonary Arteriovenous Malformation. ( 26841853 )
2016
13
Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders. ( 27824607 )
2016
14
Usefulness of Transcranial Doppler for Detecting Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia. ( 26873746 )
2016
15
Patent Foramen Ovale Combined With Pulmonary Arteriovenous Malformation. ( 27765314 )
2016
16
Implications of an Incidental Pulmonary Arteriovenous Malformation. ( 27027094 )
2016
17
Birt-Hogg-Dube syndrome accompanied by pulmonary arteriovenous malformation. ( 27867584 )
2016
18
ACR Appropriateness Criteria Clinically Suspected Pulmonary Arteriovenous Malformation. ( 27209598 )
2016
19
Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformation in hereditary hemorrhagic telangiectasia 1 (HHT1) and may influence expression of PTPN14. ( 25815003 )
2015
20
Pulmonary arteriovenous malformation as a cause of embolic stroke: case report and review of the literature. ( 25999989 )
2015
21
A large pulmonary arteriovenous malformation causing cerebrovascular accidents. ( 25883250 )
2015
22
Embolisation for pulmonary arteriovenous malformation. ( 25634560 )
2015
23
Heart failure and pulmonary arteriovenous malformations in a patient with hereditary hemorrhagic telangiectasia type 2. ( 26245826 )
2015
24
Device closure of pulmonary arteriovenous malformation using Amplatzer vascular plug II in hereditary hemorrhagic telangiectasia. ( 26432734 )
2015
25
Spontaneous cerebral gas embolism and pulmonary arteriovenous malformation: a case report. ( 26591982 )
2015
26
Vein Diameter on Unenhanced Multidetector CT Predicts Reperfusion of Pulmonary Arteriovenous Malformation after Embolotherapy. ( 26560716 )
2015
27
Pulmonary Arteriovenous Malformations in Dyskeratosis Congenita. ( 25854548 )
2015
28
Pulmonary arteriovenous malformation mimicking a pulmonary tumour on (18)F-fluorodeoxyglucose positron-emission tomography/computed tomography. ( 25995768 )
2015
29
Pulmonary arteriovenous malformation: An unusual cause of hemothorax. ( 26664184 )
2015
30
Pulmonary arteriovenous malformation in children. ( 25712408 )
2015
31
A case of pulmonary metastasis of giant cell tumor of bone presenting as pulmonary arteriovenous malformation. ( 25839772 )
2015
32
Pulmonary arteriovenous malformation-etiology, clinical four case presentations and review of the literature. ( 26261842 )
2015
33
Management of a solitary pulmonary arteriovenous malformation by video-assisted thoracoscopic surgery and anatomic lingula resection: video and review. ( 26156615 )
2015
34
Huge Pulmonary Arteriovenous Malformation, Venous Thromboembolism and Anticoagulation Treatment in a Patient with Hereditary Hemorrhagic Telangiectasia. ( 26521904 )
2015
35
Lung granuloma mimicking pulmonary arteriovenous malformation: Report of a case. ( 25541371 )
2015
36
Successful Treatment of a Large Pulmonary Arteriovenous Malformation by Repeated Coil Embolization. ( 26508934 )
2015
37
Brain abscess as the first manifestation of pulmonary arteriovenous malformation: A case report. ( 24592375 )
2014
38
BMPR2 gene mutation in pulmonary arteriovenous malformation and pulmonary hypertension: a case report. ( 24853021 )
2014
39
A giant pulmonary arteriovenous malformation without hereditary hemorrhagic telangiectasia: successful interventional embolization using a PDA occluder. ( 24627323 )
2014
40
Iatrogenic exacerbation of pulmonary arteriovenous malformation in a patient with benign metastasizing leiomyoma. ( 25473552 )
2014
41
Association between reperfusion and shrinkage percentage of the aneurysmal sac after embolization of pulmonary arteriovenous malformation: evaluation based on contrast-enhanced thin-section CT images. ( 24634005 )
2014
42
Haemoptysis from a pulmonary arteriovenous malformation in a post molar pregnancy gestational trophoblast tumour patient managed by radiological embolisation: a case report. ( 24708611 )
2014
43
Case of double-outlet right ventricle after repair with pulmonary arteriovenous malformations using cardiac CT. ( 24998091 )
2014
44
How to identify pediatric cerebral and pulmonary arteriovenous malformation earlier: non-hereditary hemorrhagic telangiectasia case. ( 25172615 )
2014
45
Transcatheter closure of a pulmonary arteriovenous malformation in a patient with hereditary hemorrhagic telangiectasia. ( 24928099 )
2014
46
Pulmonary arteriovenous malformation with actinomycotic brain abscess: a rare association. ( 24726259 )
2014
47
Regression of pulmonary artery hypertension due to development of a pulmonary arteriovenous malformation. ( 25443608 )
2014
48
Pulmonary Arteriovenous Malformations and Cerebral Abscess Recurrence in a Child With Hereditary Hemorrhagic Telangiectasia. ( 25222056 )
2014
49
A pulmonary arteriovenous malformation growing for 35 years comes to an end. ( 24484331 )
2014
50
Pulmonary arteriovenous malformation: a rare cause of dyspnoea on exertion. ( 24744072 )
2014

Variations for Pulmonary Arteriovenous Malformation

Expression for Pulmonary Arteriovenous Malformation

Search GEO for disease gene expression data for Pulmonary Arteriovenous Malformation.

Pathways for Pulmonary Arteriovenous Malformation

Pathways related to Pulmonary Arteriovenous Malformation according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.62 ACVRL1 ENG

GO Terms for Pulmonary Arteriovenous Malformation

Cellular components related to Pulmonary Arteriovenous Malformation according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 8.62 ACVRL1 ENG

Biological processes related to Pulmonary Arteriovenous Malformation according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.48 ACVRL1 ENG
2 negative regulation of gene expression GO:0010629 9.46 ACVRL1 ENG
3 positive regulation of angiogenesis GO:0045766 9.43 ACVRL1 ENG
4 negative regulation of cell migration GO:0030336 9.4 ACVRL1 ENG
5 BMP signaling pathway GO:0030509 9.37 ACVRL1 ENG
6 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.32 ACVRL1 ENG
7 positive regulation of BMP signaling pathway GO:0030513 9.26 ACVRL1 ENG
8 endocardial cushion morphogenesis GO:0003203 9.16 ACVRL1 ENG
9 dorsal aorta morphogenesis GO:0035912 8.96 ACVRL1 ENG
10 endocardial cushion to mesenchymal transition GO:0090500 8.62 ACVRL1 ENG

Molecular functions related to Pulmonary Arteriovenous Malformation according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta binding GO:0050431 8.96 ACVRL1 ENG
2 activin binding GO:0048185 8.62 ACVRL1 ENG

Sources for Pulmonary Arteriovenous Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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