MCID: PLM052
MIFTS: 35

Pulmonary Arteriovenous Malformation

Categories: Rare diseases

Aliases & Classifications for Pulmonary Arteriovenous Malformation

MalaCards integrated aliases for Pulmonary Arteriovenous Malformation:

Name: Pulmonary Arteriovenous Malformation 49 28
Arteriovenous Malformation, Pulmonary 49
Pulmonary Arteriovenous Fistula 49
Pulmonary Avm 49
Pavm 49

Classifications:



Summaries for Pulmonary Arteriovenous Malformation

NIH Rare Diseases : 49 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 arteriovenous malformation and hereditary hemorrhagic telangiectasia. 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 65)
# Related Disease Score Top Affiliating Genes
1 arteriovenous malformation 30.9 ACVRL1 ENG
2 hereditary hemorrhagic telangiectasia 30.2 ACVRL1 ENG
3 pulmonary hypertension, primary, 1 29.5 ACVRL1 ENG
4 weber syndrome 29.4 ACVRL1 ENG
5 angiodysplasia 29.2 ACVRL1 ENG
6 telangiectasis 29.1 ACVRL1 ENG
7 pulmonary hypertension 28.9 ACVRL1 ENG
8 pulmonary arteriovenous fistulas 11.7
9 pulmonary arterio-veinous fistula 11.5
10 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 11.1
11 cerebritis 10.2
12 cyanosis, transient neonatal 10.2
13 hepatitis 10.1
14 aneurysm 10.1
15 patent foramen ovale 10.0
16 migraine with or without aura 1 10.0
17 heterotaxy 10.0
18 pulmonary embolism 9.9
19 liver cirrhosis 9.9
20 dyskeratosis congenita 9.9
21 ischemia 9.9
22 mycobacterium tuberculosis 1 9.9
23 ventricular septal defect 9.8
24 myocardial infarction 9.7
25 pneumonia 9.7
26 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 9.7
27 constrictive pericarditis 9.7
28 mediastinitis 9.7
29 headache 9.7
30 leiomyoma 9.7
31 hepatopulmonary syndrome 9.7
32 blood group, i system 9.7
33 episodic pain syndrome, familial, 1 9.7
34 exophthalmos 9.7
35 birt-hogg-dube syndrome 9.7
36 carbonic anhydrase va deficiency, hyperammonemia due to 9.7
37 angina pectoris 9.7
38 fasciitis 9.7
39 pneumothorax 9.7
40 necrotizing fasciitis 9.7
41 arteriovenous fistula 9.7
42 pericarditis 9.7
43 benign metastasizing leiomyoma 9.7
44 telangiectasia, hereditary hemorrhagic, type 1 9.7
45 giant cell tumor 9.7
46 chronic thromboembolic pulmonary hypertension 9.7
47 lung cancer 9.7
48 iron metabolism disease 9.7
49 hemangioendothelioma 9.7
50 conotruncal heart malformations 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 10)
# 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 215647-85-1, 99210-65-8
4 Angiogenesis Inhibitors Phase 1, Phase 2
5 Angiogenesis Modulating Agents Phase 1, Phase 2
6 interferons Phase 2
7 Anti-Infective Agents Phase 2
8 Interferon-alpha Phase 2
9 Liver Extracts Phase 2
10 Antiviral Agents Phase 2

Interventional clinical trials:

(show all 11)

# Name Status NCT ID Phase Drugs
1 Treatment of Hereditary Hemorrhagic Telangiectasia of the Nasal Mucosa by Intranasal Bevacizumab : Search for Effective Dose Unknown status NCT02157987 Phase 1, Phase 2 bevacuzimab spray
2 Phase 2 Study of PEG-Intron in Hereditary Hemorrhagic Telangiectasia Terminated NCT00588146 Phase 2 Pegylated Interferon Alpha2b
3 Cardiopulmonary Exercise Testing to Evaluate Pulmonary AVMs Unknown status NCT02436213
4 Contrast Echocardiography in Patients With Pulmonary Arteriovenous Malformations (PAVMs) Unknown status NCT00733759
5 Case Notes Review on Patients With Hereditary Haemorrhagic Telangiectasia Unknown status NCT00230685
6 Investigation of Plasma Proteins in Patients With Hereditary Haemorrhagic Telangiectasia and PAVMs Unknown status NCT00230672
7 Studies of Hereditary Hemorrhagic Telangiectasia Completed NCT00004648
8 Reperfusion of Pulmonary Arteriovenous Malformations After Embolotherapy Recruiting NCT01856842
9 Graded TTCE for Post-Embolization PAVM Monitoring Recruiting NCT02936349
10 Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families Recruiting NCT00230620
11 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:

# Genetic test Affiliating Genes
1 Pulmonary Arteriovenous Malformation 28

Anatomical Context for Pulmonary Arteriovenous Malformation

MalaCards organs/tissues related to Pulmonary Arteriovenous Malformation:

38
Liver, Lung, Heart, Skin, Thyroid, Brain, Testes

Publications for Pulmonary Arteriovenous Malformation

Articles related to Pulmonary Arteriovenous Malformation:

(show top 50) (show all 330)
# Title Authors Year
1
A tale of two cases of pulmonary arteriovenous malformation: How they fared after cardiac transplantation. ( 29277952 )
2018
2
First use of Micro Vascular Plugs in Australia: Endovascular treatment of pulmonary arteriovenous malformation. ( 28990732 )
2018
3
Embolisation for pulmonary arteriovenous malformation. ( 29298459 )
2018
4
Utility of second-generation single-energy metal artifact reduction in helical lung computed tomography for patients with pulmonary arteriovenous malformation after coil embolization. ( 29429141 )
2018
5
Pulmonary Arteriovenous Malformation Causing Systemic Hypoxemia in Early Infancy. ( 28373920 )
2017
6
Pulmonary arteriovenous malformations complicated by splenic infarction and abscess. ( 28736615 )
2017
7
Meticulous observations essential before and after coil embolization of pulmonary arteriovenous malformation; lessons learned from two case. ( 28761454 )
2017
8
Brain infarction after embolization of a pulmonary arteriovenous malformation with metallic coils. ( 28377085 )
2017
9
Orthodeoxia without Platypnea in Hereditary Hemorrhagic Telangiectasia in the Presence of a Cerebral Abscess and Multiple Pulmonary Arteriovenous Malformations: Unusual Complications and Transcatheter Endovascular Treatment. ( 29158938 )
2017
10
An unusual combination of patent foramen ovale with pulmonary arteriovenous malformation in a young patient with stroke. ( 28681775 )
2017
11
Pulmonary Arteriovenous Malformation Detected by Three-dimensional Computed Tomographic Angiography. ( 28400192 )
2017
12
Hepatopulmonary syndrome with large pulmonary arteriovenous malformations: CT findings with emphasis on its association with a mosaic pattern of the lung parenchyma. ( 28480722 )
2017
13
Rupture of a pulmonary arteriovenous malformation: a diagnosis not to be missed. ( 28123003 )
2017
14
Cerebrovascular Events Secondary to Pulmonary Arteriovenous Malformation Based on Genetic Heterogeneity. ( 29033646 )
2017
15
Surgery versus percutaneous transcatheter embolization for pulmonary arteriovenous malformation: Analysis of a national inpatient database in Japan. ( 28629839 )
2017
16
Fontan Revision with Y-Graft in a Patient with Unilateral Pulmonary Arteriovenous Malformation. ( 28593158 )
2017
17
A case of pulmonary arteriovenous malformation: role of interventional radiology in diagnosis and treatment. ( 28936439 )
2017
18
Can the "pine-needle sign" on computed tomography be used to differentiate pulmonary arteriovenous malformation from its mimics? Analysis based on dynamic contrast-enhanced chest computed tomography in adults. ( 28987686 )
2017
19
Pulmonary arteriovenous malformation closure in a preterm newborn. ( 29037835 )
2017
20
A Survey of Pulmonary Arteriovenous Malformation Screening, Management, and Follow-Up in Hereditary Hemorrhagic Telangiectasia Centers of Excellence. ( 28188364 )
2017
21
Ultra-short echo time magnetic resonance imaging for detection of pulmonary arteriovenous malformation recanalization after coil embolization: a case report and a phantom study. ( 28944082 )
2017
22
Amplatzer vascular plug in occlusion of a pulmonary arteriovenous malformation. ( 28492337 )
2017
23
Pulmonary Arteriovenous Malformations Are Associated with Silent Brain Infarcts in Hereditary Hemorrhagic Telangiectasia Patients. ( 28746925 )
2017
24
Echocardiography Grading for Pulmonary Arteriovenous Malformation Screening in Children with Hereditary Hemorrhagic Telangiectasia. ( 29274888 )
2017
25
Stroke resulting from an isolated pulmonary arteriovenous malformation. ( 29018013 )
2017
26
Transcatheter Occlusion of a Giant Pulmonary Arteriovenous Malformation in a 1-year-old Child Using Amplatzer Vascular Plugs and Interlocking Detachable Coils. ( 28584799 )
2017
27
Regression of a Pulmonary Arteriovenous Malformation after Acute Interstitial Nephritis. ( 27250058 )
2016
28
Wake-Up Call: Pulmonary Arteriovenous Malformation. ( 27888050 )
2016
29
Regarding "Amplatzer Vascular Plugs Versus Coils for Embolization of Pulmonary Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia". ( 27501797 )
2016
30
Pulmonary arteriovenous malformation (PAVM) reperfusion after percutaneous embolization: Sensitivity and specificity of non-enhanced CT. ( 26724660 )
2016
31
Usefulness of Transcranial Doppler for Detecting Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia. ( 26873746 )
2016
32
Salvage pneumonectomy for pulmonary arteriovenous malformation in a 12-year-old boy with brain abscess and hemiparesis: A fatal outcome. ( 27051111 )
2016
33
ACR Appropriateness Criteria Clinically Suspected Pulmonary Arteriovenous Malformation. ( 27209598 )
2016
34
Feasibility of Non-contrast-enhanced MR Angiography Using the Time-SLIP Technique for the Assessment of Pulmonary Arteriovenous Malformation. ( 26841853 )
2016
35
Hereditary hemorrhagic telangiectasia patient presenting with brain abscess due to silent pulmonary arteriovenous malformation. ( 28292107 )
2016
36
Isolated asymptomatic pulmonary arteriovenous malformation presenting with ischaemic stroke. ( 26896908 )
2016
37
Amplatzer Vascular Plugs Versus Coils for Embolization of Pulmonary Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia. ( 27150804 )
2016
38
Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders. ( 27824607 )
2016
39
Patent Foramen Ovale Combined With Pulmonary Arteriovenous Malformation. ( 27765314 )
2016
40
Implications of an Incidental Pulmonary Arteriovenous Malformation. ( 27027094 )
2016
41
Reply to Letter Regarding "Amplatzer Vascular Plugs Versus Coils for Embolization of Pulmonary Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia". ( 27506772 )
2016
42
Birt-Hogg-Dube syndrome accompanied by pulmonary arteriovenous malformation. ( 27867584 )
2016
43
Pulmonary arteriovenous malformation in chronic thromboembolic pulmonary hypertension. ( 27413264 )
2016
44
Pulmonary arteriovenous malformation mimicking a pulmonary tumour on (18)F-fluorodeoxyglucose positron-emission tomography/computed tomography. ( 25995768 )
2015
45
Lung granuloma mimicking pulmonary arteriovenous malformation: Report of a case. ( 25541371 )
2015
46
Pulmonary Arteriovenous Malformations in Dyskeratosis Congenita. ( 25854548 )
2015
47
Embolisation for pulmonary arteriovenous malformation. ( 25634560 )
2015
48
Pulmonary arteriovenous malformation in children. ( 25712408 )
2015
49
A case of pulmonary metastasis of giant cell tumor of bone presenting as pulmonary arteriovenous malformation. ( 25839772 )
2015
50
Successful Treatment of a Large Pulmonary Arteriovenous Malformation by Repeated Coil Embolization. ( 26508934 )
2015

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:

# Super pathways Score Top Affiliating Genes
1 10.61 ACVRL1 ENG

GO Terms for Pulmonary Arteriovenous Malformation

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

# 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:

# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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