PAVM
MCID: PLM052
MIFTS: 32

Pulmonary Arteriovenous Malformation (PAVM)

Categories: Rare diseases, Respiratory diseases

Aliases & Classifications for Pulmonary Arteriovenous Malformation

MalaCards integrated aliases for Pulmonary Arteriovenous Malformation:

Name: Pulmonary Arteriovenous Malformation 53 29 6
Arteriovenous Malformation, Pulmonary 53
Pulmonary Arteriovenous Fistula 53
Pulmonary Avm 53
Pavm 53

Classifications:



Summaries for Pulmonary Arteriovenous Malformation

NIH Rare Diseases : 53 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.

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 ENG (Endoglin), 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 86)
# Related Disease Score Top Affiliating Genes
1 arteriovenous malformation 31.6 ACVRL1 ENG
2 hereditary hemorrhagic telangiectasia 30.9 ACVRL1 ENG
3 telangiectasis 30.5 ACVRL1 ENG
4 weber syndrome 30.0 ACVRL1 ENG
5 pulmonary hypertension 29.8 ACVRL1 ENG
6 angiodysplasia 29.6 ACVRL1 ENG
7 pulmonary hypertension, primary, 1 29.6 ACVRL1 ENG
8 arteriovenous malformations of the brain 29.5 ACVRL1 ENG
9 pulmonary arteriovenous fistulas 11.8
10 pulmonary arterio-veinous fistula 11.7
11 telangiectasia, hereditary hemorrhagic, type 4 11.3
12 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 11.3
13 patent foramen ovale 10.2
14 pulmonary embolism 10.1
15 heterotaxy 10.1
16 acquired polycythemia 10.0
17 choriocarcinoma 10.0
18 polycythemia 10.0
19 stroke, ischemic 10.0
20 liver cirrhosis 10.0
21 iron metabolism disease 10.0
22 dyskeratosis congenita 10.0
23 ischemia 10.0
24 hepatopulmonary syndrome 10.0
25 human venous malformation 10.0
26 pulmonary atresia with ventricular septal defect 9.9
27 ventricular septal defect 9.9
28 heritable pulmonary arterial hypertension 9.9 ACVRL1 ENG
29 total anomalous pulmonary venous return 1 9.9
30 tetralogy of fallot 9.9
31 gaucher disease, type i 9.9
32 patent ductus venosus 9.9
33 tricuspid atresia 9.9
34 hemangioma 9.9
35 malignant glioma 9.9
36 lymphoma 9.9
37 nodal marginal zone lymphoma 9.9
38 mitral valve stenosis 9.9
39 intracranial embolism 9.9
40 congenital hepatic fibrosis 9.9
41 amaurosis fugax 9.9
42 glioma 9.9
43 birt-hogg-dube syndrome 9.9
44 lung cancer 9.9
45 heterotaxy, visceral, 1, x-linked 9.9
46 telangiectasia, hereditary hemorrhagic, type 2 9.9
47 asthma 9.9
48 acute insulin response 9.9
49 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 9.9
50 graft-versus-host disease 9.9

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 11)
# 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 Interferon-alpha Phase 2
7 Antiviral Agents Phase 2
8 Immunologic Factors Phase 2
9 Liver Extracts Phase 2
10 interferons Phase 2
11 Anti-Infective Agents Phase 2

Interventional clinical trials:

(show all 12)
# 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 Not Applicable
4 Contrast Echocardiography in Patients With Pulmonary Arteriovenous Malformations (PAVMs) Unknown status NCT00733759
5 Cardiopulmonary Exercise Testing to Evaluate Pulmonary AVMs With and Without Airflow Obstruction Unknown status NCT02458703 Not Applicable
6 Case Notes Review on Patients With Hereditary Haemorrhagic Telangiectasia Unknown status NCT00230685
7 Investigation of Plasma Proteins in Patients With Hereditary Haemorrhagic Telangiectasia and PAVMs Unknown status NCT00230672
8 Studies of Hereditary Hemorrhagic Telangiectasia Completed NCT00004648
9 Reperfusion of Pulmonary Arteriovenous Malformations After Embolotherapy Recruiting NCT01856842 Not Applicable
10 Graded TTCE for Post-Embolization PAVM Monitoring Recruiting NCT02936349
11 Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families Recruiting NCT00230620
12 Nationwide Awareness Campaign and Call for Dental Screening for HHT in Germany Not yet recruiting NCT03549949

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 29

Anatomical Context for Pulmonary Arteriovenous Malformation

MalaCards organs/tissues related to Pulmonary Arteriovenous Malformation:

41
Liver, Lung, Heart, Skin, Thyroid, Brain, Bone

Publications for Pulmonary Arteriovenous Malformation

Articles related to Pulmonary Arteriovenous Malformation:

(show top 50) (show all 296)
# Title Authors Year
1
Pulmonary Arteriovenous Malformation After Metastatic Gestational Trophoblastic Tumor. ( 29884426 )
2018
2
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
3
Emergency video-assisted thoracic surgery for ruptured pulmonary arteriovenous malformation-related hemothorax in a pregnant woman: a case report. ( 29551093 )
2018
4
Large pulmonary arteriovenous malformation with paradoxical cerebral infarction. ( 29534345 )
2018
5
Vascular Plugging for the Enlarging Pulmonary Arteriovenous Malformation in a Patient With Idiopathic Pulmonary Artery Hypertension. ( 29801749 )
2018
6
Embolisation for pulmonary arteriovenous malformation. ( 29298459 )
2018
7
Polypoid pulmonary arteriovenous malformation causing hemothorax treated with thoracoscopic wedge resection. ( 29532185 )
2018
8
Ischemic Stroke Secondary to Paradoxical Embolism Through a Pulmonary Arteriovenous Malformation: Case Report and Review of the Literature. ( 29628339 )
2018
9
Pulmonary arteriovenous malformation presenting as spontaneous haemothorax on transthoracic ultrasound. ( 29574417 )
2018
10
First use of Micro Vascular Plugs in Australia: Endovascular treatment of pulmonary arteriovenous malformation. ( 28990732 )
2018
11
A tale of two cases of pulmonary arteriovenous malformation: How they fared after cardiac transplantation. ( 29277952 )
2018
12
Acquired Transpleural Systemic Artery-to-Pulmonary Artery Communication Mimicking a Pulmonary Arteriovenous Malformation and Causing a False-Positive Diagnosis of a Pulmonary Embolus. ( 30146210 )
2018
13
A Rare Case of Cerebral Air Embolism Caused by Pulmonary Arteriovenous Malformation After Removal of a Central Venous Catheter. ( 30158359 )
2018
14
Giant pulmonary arteriovenous malformation revealed by recurrent pregnancy loss. ( 30215736 )
2018
15
Hemothorax as the first manifestation of idiopathic pulmonary arteriovenous malformation. ( 30510658 )
2018
16
Echocardiography Grading for Pulmonary Arteriovenous Malformation Screening in Children with Hereditary Hemorrhagic Telangiectasia. ( 29274888 )
2017
17
Pulmonary Arteriovenous Malformation Causing Systemic Hypoxemia in Early Infancy. ( 28373920 )
2017
18
Fontan Revision with Y-Graft in a Patient with Unilateral Pulmonary Arteriovenous Malformation. ( 28593158 )
2017
19
Rupture of a pulmonary arteriovenous malformation: a diagnosis not to be missed. ( 28123003 )
2017
20
A Survey of Pulmonary Arteriovenous Malformation Screening, Management, and Follow-Up in Hereditary Hemorrhagic Telangiectasia Centers of Excellence. ( 28188364 )
2017
21
An unusual combination of patent foramen ovale with pulmonary arteriovenous malformation in a young patient with stroke. ( 28681775 )
2017
22
Pulmonary arteriovenous malformation closure in a preterm newborn. ( 29037835 )
2017
23
Transcatheter Occlusion of a Giant Pulmonary Arteriovenous Malformation in a 1-year-old Child Using Amplatzer Vascular Plugs and Interlocking Detachable Coils. ( 28584799 )
2017
24
Stroke resulting from an isolated pulmonary arteriovenous malformation. ( 29018013 )
2017
25
Pulmonary Arteriovenous Malformation Detected by Three-dimensional Computed Tomographic Angiography. ( 28400192 )
2017
26
Cerebrovascular Events Secondary to Pulmonary Arteriovenous Malformation Based on Genetic Heterogeneity. ( 29033646 )
2017
27
Surgery versus percutaneous transcatheter embolization for pulmonary arteriovenous malformation: Analysis of a national inpatient database in Japan. ( 28629839 )
2017
28
A case of pulmonary arteriovenous malformation: role of interventional radiology in diagnosis and treatment. ( 28936439 )
2017
29
Meticulous observations essential before and after coil embolization of pulmonary arteriovenous malformation; lessons learned from two case. ( 28761454 )
2017
30
Brain infarction after embolization of a pulmonary arteriovenous malformation with metallic coils. ( 28377085 )
2017
31
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
32
Amplatzer vascular plug in occlusion of a pulmonary arteriovenous malformation. ( 28492337 )
2017
33
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
34
Percutaneous closure of a giant pulmonary arteriovenous malformation using multiple devices. ( 30279798 )
2017
35
Implications of an Incidental Pulmonary Arteriovenous Malformation. ( 27027094 )
2016
36
Salvage pneumonectomy for pulmonary arteriovenous malformation in a 12-year-old boy with brain abscess and hemiparesis: A fatal outcome. ( 27051111 )
2016
37
Regression of a Pulmonary Arteriovenous Malformation after Acute Interstitial Nephritis. ( 27250058 )
2016
38
Pulmonary arteriovenous malformation (PAVM) reperfusion after percutaneous embolization: Sensitivity and specificity of non-enhanced CT. ( 26724660 )
2016
39
Isolated asymptomatic pulmonary arteriovenous malformation presenting with ischaemic stroke. ( 26896908 )
2016
40
Patent Foramen Ovale Combined With Pulmonary Arteriovenous Malformation. ( 27765314 )
2016
41
Feasibility of Non-contrast-enhanced MR Angiography Using the Time-SLIP Technique for the Assessment of Pulmonary Arteriovenous Malformation. ( 26841853 )
2016
42
ACR Appropriateness Criteria Clinically Suspected Pulmonary Arteriovenous Malformation. ( 27209598 )
2016
43
Hereditary hemorrhagic telangiectasia patient presenting with brain abscess due to silent pulmonary arteriovenous malformation. ( 28292107 )
2016
44
Pulmonary arteriovenous malformation in chronic thromboembolic pulmonary hypertension. ( 27413264 )
2016
45
Wake-Up Call: Pulmonary Arteriovenous Malformation. ( 27888050 )
2016
46
Birt-Hogg-Dube syndrome accompanied by pulmonary arteriovenous malformation. ( 27867584 )
2016
47
Vein Diameter on Unenhanced Multidetector CT Predicts Reperfusion of Pulmonary Arteriovenous Malformation after Embolotherapy. ( 26560716 )
2016
48
Imaging features and transcatheter treatment of a giant pulmonary arteriovenous malformation in an elderly patient. ( 30364486 )
2016
49
Embolisation for pulmonary arteriovenous malformation. ( 25634560 )
2015
50
Successful Treatment of a Large Pulmonary Arteriovenous Malformation by Repeated Coil Embolization. ( 26508934 )
2015

Variations for Pulmonary Arteriovenous Malformation

ClinVar genetic disease variations for Pulmonary Arteriovenous Malformation:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ENG NM_001114753.2(ENG): c.1583delC (p.Pro528Argfs) deletion Pathogenic GRCh37 Chromosome 9, 130580502: 130580502
2 ENG NM_001114753.2(ENG): c.1583delC (p.Pro528Argfs) deletion Pathogenic GRCh38 Chromosome 9, 127818223: 127818223

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 8.96 ACVRL1 ENG
2 receptor complex GO:0043235 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 negative regulation of gene expression GO:0010629 9.48 ACVRL1 ENG
2 angiogenesis GO:0001525 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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