MCID: PLM052
MIFTS: 34

Pulmonary Arteriovenous Malformation

Categories: Rare 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 67)
# Related Disease Score Top Affiliating Genes
1 arteriovenous malformation 30.8 ACVRL1 ENG
2 hereditary hemorrhagic telangiectasia 30.0 ACVRL1 ENG
3 pulmonary hypertension, primary, 1 29.4 ACVRL1 ENG
4 weber syndrome 29.2 ACVRL1 ENG
5 angiodysplasia 29.0 ACVRL1 ENG
6 telangiectasis 28.9 ACVRL1 ENG
7 pulmonary hypertension 28.3 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 telangiectasia, hereditary hemorrhagic, type 4 11.0
12 cerebritis 10.3
13 hepatitis 10.2
14 aneurysm 10.1
15 patent foramen ovale 10.0
16 heterotaxy 10.0
17 pulmonary embolism 9.9
18 liver cirrhosis 9.9
19 dyskeratosis congenita 9.9
20 ischemia 9.9
21 ventricular septal defect 9.8
22 pulmonary atresia with ventricular septal defect 9.8
23 stroke, ischemic 9.7
24 constrictive pericarditis 9.7
25 turner syndrome 9.7
26 hemangioendothelioma 9.7
27 myocardial infarction 9.7
28 leiomyoma 9.7
29 trophoblastic neoplasm 9.7
30 hemiplegic migraine 9.7
31 bone giant cell tumor 9.7
32 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 9.7
33 pneumonia 9.7
34 angina pectoris 9.7
35 double outlet right ventricle 9.7
36 sporadic hemiplegic migraine 9.7
37 pneumothorax 9.7
38 mediastinitis 9.7
39 arteriovenous fistula 9.7
40 pericarditis 9.7
41 hepatopulmonary syndrome 9.7
42 headache 9.7
43 gaucher's disease 9.7
44 exophthalmos 9.7
45 birt-hogg-dube syndrome 9.7
46 giant cell tumor 9.7
47 transient cerebral ischemia 9.7
48 fasciitis 9.7
49 thrombosis 9.7
50 iron metabolism disease 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 99210-65-8, 215647-85-1
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 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, Testes

Publications for Pulmonary Arteriovenous Malformation

Articles related to Pulmonary Arteriovenous Malformation:

(show top 50) (show all 376)
# 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
Pulmonary arteriovenous malformations in children with hereditary hemorrhagic telangiectasia: a longitudinal study. ( 29916764 )
2018
13
Echocardiography Grading for Pulmonary Arteriovenous Malformation Screening in Children with Hereditary Hemorrhagic Telangiectasia. ( 29274888 )
2017
14
A novel mutation in nuclear prelamin a recognition factor-like causes diffuse pulmonary arteriovenous malformations. ( 27835862 )
2017
15
Pulmonary Arteriovenous Malformation Causing Systemic Hypoxemia in Early Infancy. ( 28373920 )
2017
16
Fontan Revision with Y-Graft in a Patient with Unilateral Pulmonary Arteriovenous Malformation. ( 28593158 )
2017
17
Rupture of a pulmonary arteriovenous malformation: a diagnosis not to be missed. ( 28123003 )
2017
18
A Survey of Pulmonary Arteriovenous Malformation Screening, Management, and Follow-Up in Hereditary Hemorrhagic Telangiectasia Centers of Excellence. ( 28188364 )
2017
19
Hepatopulmonary syndrome with large pulmonary arteriovenous malformations: CT findings with emphasis on its association with a mosaic pattern of the lung parenchyma. ( 28480722 )
2017
20
Contemporary Management of Pulmonary Arteriovenous Malformations. ( 29142484 )
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
Surgical treatment of pulmonary arteriovenous malformations. ( 28263484 )
2017
25
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
26
Stroke resulting from an isolated pulmonary arteriovenous malformation. ( 29018013 )
2017
27
Pulmonary Arteriovenous Malformation Detected by Three-dimensional Computed Tomographic Angiography. ( 28400192 )
2017
28
Cerebrovascular Events Secondary to Pulmonary Arteriovenous Malformation Based on Genetic Heterogeneity. ( 29033646 )
2017
29
Surgery versus percutaneous transcatheter embolization for pulmonary arteriovenous malformation: Analysis of a national inpatient database in Japan. ( 28629839 )
2017
30
A case of pulmonary arteriovenous malformation: role of interventional radiology in diagnosis and treatment. ( 28936439 )
2017
31
Meticulous observations essential before and after coil embolization of pulmonary arteriovenous malformation; lessons learned from two case. ( 28761454 )
2017
32
Brain infarction after embolization of a pulmonary arteriovenous malformation with metallic coils. ( 28377085 )
2017
33
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
34
Pulmonary Arteriovenous Malformations Are Associated with Silent Brain Infarcts in Hereditary Hemorrhagic Telangiectasia Patients. ( 28746925 )
2017
35
Amplatzer vascular plug in occlusion of a pulmonary arteriovenous malformation. ( 28492337 )
2017
36
Hemoglobin Is a Vital Determinant of Arterial Oxygen Content in Hypoxemic Patients with Pulmonary Arteriovenous Malformations. ( 28267932 )
2017
37
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
38
Pulmonary arteriovenous malformations complicated by splenic infarction and abscess. ( 28736615 )
2017
39
Implications of an Incidental Pulmonary Arteriovenous Malformation. ( 27027094 )
2016
40
Salvage pneumonectomy for pulmonary arteriovenous malformation in a 12-year-old boy with brain abscess and hemiparesis: A fatal outcome. ( 27051111 )
2016
41
Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders. ( 27824607 )
2016
42
Regression of a Pulmonary Arteriovenous Malformation after Acute Interstitial Nephritis. ( 27250058 )
2016
43
Usefulness of Transcranial Doppler for Detecting Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia. ( 26873746 )
2016
44
Pulmonary arteriovenous malformation (PAVM) reperfusion after percutaneous embolization: Sensitivity and specificity of non-enhanced CT. ( 26724660 )
2016
45
Reply to Letter Regarding "Amplatzer Vascular Plugs Versus Coils for Embolization of Pulmonary Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia". ( 27506772 )
2016
46
Isolated asymptomatic pulmonary arteriovenous malformation presenting with ischaemic stroke. ( 26896908 )
2016
47
Patent Foramen Ovale Combined With Pulmonary Arteriovenous Malformation. ( 27765314 )
2016
48
Feasibility of Non-contrast-enhanced MR Angiography Using the Time-SLIP Technique for the Assessment of Pulmonary Arteriovenous Malformation. ( 26841853 )
2016
49
ACR Appropriateness Criteria Clinically Suspected Pulmonary Arteriovenous Malformation. ( 27209598 )
2016
50
Amplatzer Vascular Plugs Versus Coils for Embolization of Pulmonary Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia. ( 27150804 )
2016

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 8.62 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
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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