PAVM
MCID: PLM052
MIFTS: 42

Pulmonary Arteriovenous Malformation (PAVM)

Categories: Cardiovascular diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Pulmonary Arteriovenous Malformation

MalaCards integrated aliases for Pulmonary Arteriovenous Malformation:

Name: Pulmonary Arteriovenous Malformation 20 6
Arteriovenous Malformation, Pulmonary 20
Pulmonary Arteriovenous Fistula 20
Pulmonary Avm 20
Pavm 20

Classifications:



Summaries for Pulmonary Arteriovenous Malformation

GARD : 20 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 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome and arteriovenous malformation. An important gene associated with Pulmonary Arteriovenous Malformation is ENG (Endoglin), and among its related pathways/superpathways are TGF-beta Signaling Pathways and ALK1 signaling events. The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include heart, liver and brain, and related phenotypes are telangiectasia and pulmonary arteriovenous fistulas

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 158)
# Related Disease Score Top Affiliating Genes
1 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 31.2 ENG BMPR2 ACVRL1
2 arteriovenous malformation 31.1 ENG BMPR2 ACVRL1
3 telangiectasis 30.5 ENG BMPR2 ACVRL1
4 weber syndrome 30.4 ENG ACVRL1
5 hereditary hemorrhagic telangiectasia 30.1 LOC102723566 ENG BMPR2 ACVRL1
6 angiodysplasia 30.0 ENG ACVRL1
7 pulmonary hypertension 29.9 ENG BMPR2 ACVRL1
8 arteriovenous malformations of the brain 29.6 ENG ACVRL1
9 telangiectasia, hereditary hemorrhagic, type 1 29.6 LOC102723566 ENG ACVRL1
10 hepatopulmonary syndrome 29.5 ENG BMPR2 ACVRL1
11 pulmonary hypertension, primary, 1 29.2 LOC102723566 ENG BMPR2 ACVRL1
12 idiopathic/heritable pulmonary arterial hypertension 28.7 LOC102723566 ENG BMPR2 ACVRL1
13 pulmonary arteriovenous fistulas 11.7
14 telangiectasia, hereditary hemorrhagic, type 4 11.1
15 cyanosis, transient neonatal 10.7
16 stroke, ischemic 10.4
17 patent foramen ovale 10.4
18 pulmonary embolism 10.4
19 virus-associated trichodysplasia spinulosa 10.3
20 heart septal defect 10.3
21 atrial heart septal defect 10.3
22 polycythemia 10.3
23 aneurysm 10.3
24 intracranial embolism 10.2
25 hemiplegia 10.2
26 hemangioma 10.2
27 migraine with or without aura 1 10.2
28 single ventricular heart 10.2
29 renal cell carcinoma, nonpapillary 10.1
30 pneumothorax, primary spontaneous 10.1
31 tetralogy of fallot 10.1
32 patent ductus arteriosus 1 10.1
33 cavernous hemangioma 10.1
34 congenital arteriovenous fistula 10.1
35 osteomyelitis 10.1
36 endocarditis 10.1
37 respiratory failure 10.1
38 leiomyoma 10.1
39 pneumothorax 10.1
40 iron metabolism disease 10.1
41 pleural empyema 10.1
42 liver cirrhosis 10.1
43 benign metastasizing leiomyoma 10.1
44 lymphoma, mucosa-associated lymphoid type 9.9
45 sarcoidosis 1 9.9
46 schistosoma mansoni infection, susceptibility/ 9.9
47 supravalvular aortic stenosis 9.9
48 anus, imperforate 9.9
49 hemihyperplasia, isolated 9.9
50 orthostatic intolerance 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

Human phenotypes related to Pulmonary Arteriovenous Malformation:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 telangiectasia 31 hallmark (90%) HP:0001009
2 pulmonary arteriovenous fistulas 31 hallmark (90%) HP:0004952
3 dyspnea 31 frequent (33%) HP:0002094
4 transient ischemic attack 31 frequent (33%) HP:0002326
5 hypoxemia 31 frequent (33%) HP:0012418
6 ischemic stroke 31 frequent (33%) HP:0002140
7 hemothorax 31 frequent (33%) HP:0012151
8 myocardial infarction 31 occasional (7.5%) HP:0001658
9 hemoptysis 31 occasional (7.5%) HP:0002105
10 cough 31 occasional (7.5%) HP:0012735
11 epistaxis 31 occasional (7.5%) HP:0000421
12 migraine 31 occasional (7.5%) HP:0002076
13 pulmonary arterial hypertension 31 occasional (7.5%) HP:0002092
14 cyanosis 31 occasional (7.5%) HP:0000961
15 bacterial endocarditis 31 occasional (7.5%) HP:0006689
16 iron deficiency anemia 31 occasional (7.5%) HP:0001891
17 heart murmur 31 occasional (7.5%) HP:0030148
18 palpitations 31 occasional (7.5%) HP:0001962
19 abnormal thrombosis 31 occasional (7.5%) HP:0001977
20 brain abscess 31 occasional (7.5%) HP:0030049
21 pulmonary hemorrhage 31 occasional (7.5%) HP:0040223
22 clubbing 31 occasional (7.5%) HP:0001217
23 pleural empyema 31 occasional (7.5%) HP:0011919
24 liver abscess 31 very rare (1%) HP:0100523
25 gastrointestinal infarctions 31 very rare (1%) HP:0005244
26 recurrent abscess formation 31 very rare (1%) HP:0002722
27 seizure 31 very rare (1%) HP:0001250

GenomeRNAi Phenotypes related to Pulmonary Arteriovenous Malformation according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 8.8 ACVRL1 BMPR2
2 Decreased substrate adherent cell growth GR00193-A-4 8.8 ACVRL1

Drugs & Therapeutics for Pulmonary Arteriovenous Malformation

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Hammersmith Hospital Patients With Pulmonary Arteriovenous Malformations (PAVMs) and Hereditary Haemorrhagic Telangiectasia Unknown status NCT00230685
2 Studies of Plasma Proteins Derived From Pulmonary Arteriovenous Malformation Patients Unknown status NCT00230672
3 Hypoxemia, Dyspnea, and Exercise Tolerance in Patients With Pulmonary Arteriovenous Malformations Unknown status NCT02436213
4 Hypoxemia, Dyspnea, and Exercise Tolerance in Patients With Pulmonary Arteriovenous Malformations , With and Without Airflow Obstruction Unknown status NCT02458703
5 Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families With Pulmonary Arteriovenous Malformations Unknown status NCT00230620
6 Pulmonary Arteriovenous Malformations (PAVMs) in Hereditary Haemorrhagic Telangiectasia (HHT): Correlations Between Computed Tomography Findings and Cerebral Complications Completed NCT03940014
7 A Review of Surgical Management of Congenital Pulmonary Airway Malformations (CPAM): A Decade of Experience Completed NCT04449614
8 Correlation of Graded Transthoracic Contrast Echocardiography With Chest CT Findings After Pulmonary Arteriovenous Malformation Embolization in Patients With Hereditary Hemorrhagic Telangiectasia, 2016 Completed NCT02936349
9 Reperfusion of Pulmonary Arteriovenous Malformations After Embolotherapy. A Randomized Trial of Interlock™ Fibered IDC™ Occlusion System vs. Nester Coils Completed NCT01856842
10 Studies of Hereditary Hemorrhagic Telangiectasia: Screening Methods for Pulmonary Arteriovenous Malformations; Prevalence of Pulmonary and Cerebral Arteriovenous Malformations; Prevalence of Cardiac Valve Abnormalities; and Identification of Modifier Genes Completed NCT00004648
11 Prospective, Single-Center, Single Arm, Feasibility Study of the PAVmed CarpX Device for the Treatment of Carpal Tunnel Syndrome Completed NCT03747510
12 Microvascular Plug (MVP) for the Treatment of Pulmonary ArterioVenous Malformations (PAVMs) Recruiting NCT04396041
13 Diagnostic Value of Ultra-low Dose Thoracic Scanner for the Pulmonary Arteriovenous Malformation Detection in HHT Patient Recruiting NCT04108052
14 The Evaluation of Intra-cardiac Shunts in Patients With Pulmonary Arteriovenous Malformations Withdrawn NCT00733759

Search NIH Clinical Center for Pulmonary Arteriovenous Malformation

Genetic Tests for Pulmonary Arteriovenous Malformation

Anatomical Context for Pulmonary Arteriovenous Malformation

MalaCards organs/tissues related to Pulmonary Arteriovenous Malformation:

40
Heart, Liver, Brain, Spinal Cord, Prostate

Publications for Pulmonary Arteriovenous Malformation

Articles related to Pulmonary Arteriovenous Malformation:

(show top 50) (show all 583)
# Title Authors PMID Year
1
[Bilateral diffuse congenital pulmonary arteriovenous malformation in a neonate]. 61
33775054 2021
2
Pulmonary Arteriovenous Malformation-Related Embolic Stroke Causing Thalamic Esotropia. 61
31609837 2021
3
Successful Transcatheter Treatment of Simultaneous Patent Foramen Ovale and Pulmonary Arteriovenous Malformation for Prevention of Recurrent Stroke in a Patient With Cryptogenic Stroke. 61
33658443 2021
4
A case of pulmonary arteriovenous malformation in the setting of Rendu Osler Weber syndrome. 61
33363687 2021
5
Pulmonary arteriovenous malformation with metal allergy. 61
33692060 2021
6
Giant ascending aortic aneurysm and pulmonary arteriovenous malformation in the left upper lung lobe. 61
33684346 2021
7
[Sudden convulsion with multiple pulmonary nodules in a girl aged 15 years]. 61
33691924 2021
8
Declarations: management of a pulmonary arteriovenous fistulae by uniportal video-assisted thoracoscopic surgery: a case report. 61
33622276 2021
9
Delayed presentation of a rare and complex multi-vessel pulmonary arteriovenous fistula following penetrating chest-wall trauma. 61
33643606 2021
10
Pulmonary arteriovenous malformations diagnosed through hemoptysis: A case report. 61
33304440 2021
11
Cardiac catheterization for hemoptysis in a Children's Hospital Cardiac Catheterization Laboratory: A 15 year experience. 61
32951945 2021
12
Right brachial vein access for pulmonary arteriovenous malformation embolization. 61
33229286 2021
13
Pulmonary arteriovenous malformation (PAVM) embolization: prediction of angiographically-confirmed recanalization according to PAVM Diameter changes on CT. 61
33459902 2021
14
Acquired Pulmonary Arteriovenous Malformation in a Case of a Pediatric Adrenocortical Carcinoma. 61
33546552 2021
15
Embolic Stroke Caused by Hereditary Hemorrhagic Telangiectasia with Pulmonary Arteriovenous Malformation. 61
32815056 2020
16
Streptococcus sanguis brain abscess as an initial manifestation of pulmonary arteriovenous malformation. 61
33363805 2020
17
Emergency surgery for hemothorax due to a ruptured pulmonary arteriovenous malformation. 61
31933138 2020
18
Identification of a novel de novo mutation of ENG gene in a fetus with pulmonary arteriovenous malformation. 61
32954511 2020
19
Novel GDF2 Gene Mutation Associated with Pulmonary Arteriovenous Malformation. 61
32992168 2020
20
Giant Neonatal Pulmonary Arteriovenous Malformation: An Imaging and Management Challenge. 61
33376847 2020
21
Anterior Spinal Artery Steal Syndrome Complicated by Ruptured Flow-Related Aneurysm of the Anterior Radiculomedullary Artery. 61
32889198 2020
22
Staphylococcus intermedius Brain Abscess as a Complication of Pulmonary Arteriovenous Malformation in a Patient With Hereditary Hemorrhagic Telangiectasia. 61
33209954 2020
23
Large Venous Sac Thrombus Formation after Endovascular Embolization of Ruptured Pulmonary Arteriovenous Malformation: Usefulness of Time-Resolved MR Angiography in Decision Making. 61
32962853 2020
24
A case report of hereditary hemorrhagic telangiectasia in a family with initial presentation of cerebral abscess and pulmonary arteriovenous malformation in the proband. 61
32514857 2020
25
Asymptomatic Large Pulmonary Arteriovenous Malformation Masquerading as a Metastatic Deposit in a Patient with Papillary Thyroid Carcinoma. 61
33642758 2020
26
[Management of pulmonary arteriovenous malformation with pulmonary hypertension]. 61
32675004 2020
27
Co-presentation of pulmonary arteriovenous malformation (PAVM) and multifocal benign metastasizing leiomyoma (BML) of lungs: Diagnostic dilemma and successful endovascular treatment. 61
32442856 2020
28
Pulmonary arteriovenous malformation in a pediatric patient with epistaxis and hypoxemia. 61
32774576 2020
29
Pulmonary arteriovenous malformation. 61
32883910 2020
30
[An hereditary hemorrhagic telangiectasia of late revealed by a cerebral venous thrombosis: A case report]. 61
32565074 2020
31
RASA1 phenotype overlaps with hereditary haemorrhagic telangiectasia: two case reports. 61
32900839 2020
32
Transthoracic contrast echocardiography in pulmonary arteriovenous malformation evaluation. 61
32343817 2020
33
[Case report of hereditary hemorrhagic telangiectasia in children and literature review]. 61
32842389 2020
34
Structural and perfusion magnetic resonance imaging of congenital lung malformations. 61
32303778 2020
35
Pulmonary Arteriovenous Malformation and Paradoxical Ischemic Stroke in a Patient With Hereditary Hemorrhagic Telangiectasia. 61
32593699 2020
36
Diagnostic Dilemma in a Case of Diffuse Pulmonary Arteriovenous Malformation With Vascular Stenosis. 61
31877288 2020
37
[Detection of right-to-left shunt with transthoracic contrast echocardiography in patients with pulmonary hypertension]. 61
32536092 2020
38
CT Angiography Findings of Pulmonary Arteriovenous Malformations in Children and Young Adults With Hereditary Hemorrhagic Telangiectasia. 61
32255688 2020
39
Paradoxical Embolism in a Case of Hereditary Hemorrhagic Telangiectasia: Case Report with Literature Review. 61
32643684 2020
40
Hemothorax secondary to ruptured pulmonary arteriovenous malformation: A combined stitch in time saves nine. 61
32367853 2020
41
Postembolotherapy Pulmonary Arteriovenous Malformation Follow-Up: A Role for Graded Transthoracic Contrast Echocardiography Prior to High-Resolution Chest CT Scan. 61
31794700 2020
42
CT dose optimization for the detection of pulmonary arteriovenous malformation (PAVM): A phantom study. 61
31932228 2020
43
[Pulmonary arteriovenous fistulas in a pediatric patient: a case report]. 61
32199058 2020
44
A Dual Antegrade and Retrograde Approach to Central Pulmonary Arteriovenous Malformation Embolization. 61
31858182 2020
45
Automatic Remasking of Digital Subtraction Angiography Images in Pulmonary Angiography. 61
31625027 2020
46
Comparison of Ferumoxytol-enhanced MR Angiography and CT Angiography for the Detection of Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: Initial Results. 61
33778550 2020
47
Improved differential diagnosis of intracardiac and extracardiac shunts using acoustic intensity mapping of saline contrast studies. 61
31324917 2020
48
Fusobacterium osteomyelitis of the femur in a patient with chronic hypoxemia due to pulmonary arteriovenous malformation: A case report. 61
31587978 2020
49
Pitfalls of delaying the diagnosis of hereditary haemorrhagic telangiectasia. 61
31510822 2020
50
Pulmonary arteriovenous malformation managed by VATS lobectomy. 61
33242965 2020

Variations for Pulmonary Arteriovenous Malformation

ClinVar genetic disease variations for Pulmonary Arteriovenous Malformation:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ENG , LOC102723566 NM_000118.3(ENG):c.1583del (p.Pro528fs) Deletion Pathogenic 523407 rs1554809253 GRCh37: 9:130580502-130580502
GRCh38: 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 10.94 ENG ACVRL1
2
Show member pathways
10.05 BMPR2 ACVRL1

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 9.13 ENG BMPR2 ACVRL1
2 receptor complex GO:0043235 8.8 ENG BMPR2 ACVRL1

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of angiogenesis GO:0045766 9.62 ENG ACVRL1
2 negative regulation of cell migration GO:0030336 9.61 ENG ACVRL1
3 negative regulation of cell growth GO:0030308 9.61 BMPR2 ACVRL1
4 transforming growth factor beta receptor signaling pathway GO:0007179 9.6 ENG ACVRL1
5 positive regulation of endothelial cell proliferation GO:0001938 9.59 BMPR2 ACVRL1
6 cellular response to growth factor stimulus GO:0071363 9.58 BMPR2 ACVRL1
7 negative regulation of endothelial cell proliferation GO:0001937 9.58 ENG ACVRL1
8 cellular response to BMP stimulus GO:0071773 9.57 BMPR2 ACVRL1
9 blood vessel remodeling GO:0001974 9.56 BMPR2 ACVRL1
10 outflow tract septum morphogenesis GO:0003148 9.55 ENG BMPR2
11 activin receptor signaling pathway GO:0032924 9.54 BMPR2 ACVRL1
12 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.52 BMPR2 ACVRL1
13 endocardial cushion morphogenesis GO:0003203 9.51 ENG ACVRL1
14 BMP signaling pathway GO:0030509 9.5 ENG BMPR2 ACVRL1
15 negative regulation of DNA biosynthetic process GO:2000279 9.49 BMPR2 ACVRL1
16 lymphangiogenesis GO:0001946 9.48 BMPR2 ACVRL1
17 artery development GO:0060840 9.46 BMPR2 ACVRL1
18 retina vasculature development in camera-type eye GO:0061298 9.43 BMPR2 ACVRL1
19 dorsal aorta morphogenesis GO:0035912 9.4 ENG ACVRL1
20 lymphatic endothelial cell differentiation GO:0060836 9.37 BMPR2 ACVRL1
21 venous blood vessel development GO:0060841 9.26 BMPR2 ACVRL1
22 endocardial cushion to mesenchymal transition GO:0090500 9.16 ENG ACVRL1
23 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.13 ENG BMPR2 ACVRL1
24 positive regulation of BMP signaling pathway GO:0030513 8.8 ENG BMPR2 ACVRL1

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 9.37 ENG ACVRL1
2 activin binding GO:0048185 9.32 ENG ACVRL1
3 BMP binding GO:0036122 9.26 ENG BMPR2
4 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.16 BMPR2 ACVRL1
5 BMP receptor activity GO:0098821 8.96 BMPR2 ACVRL1
6 transforming growth factor beta-activated receptor activity GO:0005024 8.8 ENG BMPR2 ACVRL1

Sources for Pulmonary Arteriovenous Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....