Pulmonary Arteriovenous Fistulas (PAVM)

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Pulmonary Arteriovenous Fistulas

MalaCards integrated aliases for Pulmonary Arteriovenous Fistulas:

Name: Pulmonary Arteriovenous Fistulas 56
Pulmonary Arteriovenous Malformation 58
Pulmonary Arterio-Veinous Fistula 52
Pulmonar Arteriovenous Aneurysm 52
Pulmonary Arteriovenous Fistula 52
Pavm 58


Orphanet epidemiological data:

pulmonary arteriovenous malformation
Inheritance: Not applicable; Prevalence: 1-5/10000 (Japan); Age of onset: Adult;


autosomal recessive.

based on one sib pair each in their seventies
isolated pulmonary a-v fistulas are typically associated with hereditary hemorrhagic telangiectasia


Orphanet: 58  
Rare circulatory system diseases
Developmental anomalies during embryogenesis

External Ids:

OMIM 56 265140
ICD10 via Orphanet 33 Q25.7
UMLS via Orphanet 72 C0155675
Orphanet 58 ORPHA2038
MedGen 41 C0155675

Summaries for Pulmonary Arteriovenous Fistulas

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2038 Definition Pulmonary arteriovenous malformation (PAVM) describes an anatomic communication between a pulmonary artery and a pulmonary vein leading to a right to left extracardiac shunt that can be asymptomatic or can lead to varying manifestations such as dyspnea, hemoptysis, and neurological symptoms. Epidemiology Prevalence is estimated at around 1/ 2,600. There is a minor female predominance. Clinical description Clinical features vary widely but in most cases, PAVMs are asymptomatic because of successful physiological compensations (i.e. polycythemia, high cardiac output). The mean age for presentation is over 50ys of age, though lower if screening programs are utilized. Dyspnea, fatigue and exercise intolerance are more common in patients with concurrent conditions such as anemia , cardiac and/or respiratory diseases. Hemoptysis is rare, but is the most frequent cause of maternal death in pregnancy. Neurological manifestations including migraines, ischemic strokes/ transient ischemic attacks, and cerebral abscesses are attributed to paradoxical embolism through PAVMs. Tachyarrhythmias and angina may be present at diagnosis, although they usually reflect a more complex underlying pathology; particularly iron deficiency and/or visceral arteriovenous malformations (AVMs) due to underlying hereditary hemorrhagic telangiectasia (HHT). HHT is present in the majority of recognized cases of PAVMs (> 90 % in some series). Etiology The exact pathogenesis is still unknown. Although generally observed in the context of HHT, PAVMs may also be idiopathic. Much rarer etiological causes include cavopulmonary surgical corrections of cyanotic congenital heart disease; gestational trophoblastic disease; and arteriovenous fistulae induced by trauma. Diagnostic methods Diagnosis is based on imaging demonstrating one or more AVMs usually located in the lower lobes of the lungs. Although PAVMs may be clearly visible on chest x-rays , many are not, even when clinically significant. Computed tomography (CT) is generally considered the gold-standard investigation for diagnosing PAVMs. AVMs can be isolated or multiple, unilateral or bilateral. 'Simple' lesions consist of an aneurysmal venous sac communicating with a dilated feeding artery and draining vein. Other PAVMs are complex plexiform masses with multiple afferent and efferent vessels. Diffuse PAVMs are multiple small PAVMs affecting a single segment, or every segment of one or more lobes. Arterial partial pressure of oxygen (PaO2) and oxygen saturation (SaO2), are often low, and are inversely related to the size of the right to left shunt. Approximately 1/3 of patients demonstrate orthodeoxia, but platypnea is seldom observed. Differential diagnosis Differential diagnoses include pulmonary artery aneurysms, pulmonary varices, bronchoceles and vascular tumors . Genetic counseling Genetic counseling focuses on the presence of hereditary hemorrhagic telangiectasia (HHT). Since HHT can be difficult to diagnose, and familial PAVMs are recognized in non-HHT families, screening of first-degree relatives is common. Management and treatment Percutaneous transcatheter embolization of the pulmonary artery/ies feeding the PAVMs is the treatment of choice, irrespective of respiratory symptoms. Additional recommendations include judicious dental hygiene; antibiotic prophylaxis prior to dental and surgical procedures; optimization of iron status; and pregnancy-specific recommendations. Prognosis With appropriate management and interventions, prognosis is generally very good with many patients reaching their 9th and 10th decades of life. During pregnancy, however, there is a 1% maternal death rate. Difficult management issues arise in patients who continue to experience neurological complications, or when PAVMs acquire a systemic arterial supply, increasing the risk of hemoptysis. Visit the Orphanet disease page for more resources.

MalaCards based summary : Pulmonary Arteriovenous Fistulas, also known as pulmonary arteriovenous malformation, is related to pulmonary arteriovenous malformation and juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome. The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include heart, lung and brain, and related phenotypes are cyanosis and pulmonary arteriovenous fistulas

More information from OMIM: 265140

Related Diseases for Pulmonary Arteriovenous Fistulas

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

(show top 50) (show all 186)
# Related Disease Score Top Affiliating Genes
1 pulmonary arteriovenous malformation 11.8
2 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 11.8
3 telangiectasia, hereditary hemorrhagic, type 4 11.4
4 hereditary hemorrhagic telangiectasia 10.8
5 telangiectasis 10.8
6 cyanosis, transient neonatal 10.8
7 arteriovenous malformation 10.6
8 polycythemia 10.5
9 pulmonary hypertension 10.5
10 weber syndrome 10.5
11 patent foramen ovale 10.5
12 iron metabolism disease 10.4
13 heart septal defect 10.3
14 mitral valve stenosis 10.3
15 pleurisy 10.3
16 atrial heart septal defect 10.3
17 intracranial embolism 10.3
18 heart disease 10.3
19 telangiectasia, hereditary hemorrhagic, type 1 10.2
20 hemiplegia 10.2
21 thrombophilia due to thrombin defect 10.2
22 stroke, ischemic 10.2
23 transient cerebral ischemia 10.2
24 hemangioma 10.2
25 liver cirrhosis 10.2
26 cerebrovascular disease 10.2
27 arteriovenous malformations of the brain 10.1
28 migraine with or without aura 1 10.1
29 acquired polycythemia 10.1
30 telangiectasia, hereditary hemorrhagic, type 2 10.1
31 deficiency anemia 10.1
32 respiratory failure 10.1
33 iron deficiency anemia 10.1
34 48,xyyy 10.1
35 fibrosis of extraocular muscles, congenital, 1 10.0
36 renal cell carcinoma, nonpapillary 10.0
37 pneumothorax, primary spontaneous 10.0
38 schistosoma mansoni infection, susceptibility/ 10.0
39 tetralogy of fallot 10.0
40 patent ductus arteriosus 1 10.0
41 aphasia 10.0
42 endocarditis 10.0
43 schistosomiasis 10.0
44 pneumothorax 10.0
45 angiodysplasia 10.0
46 choriocarcinoma 10.0
47 tricuspid valve insufficiency 10.0
48 cavernous hemangioma 10.0
49 pneumonia 10.0
50 congestive heart failure 10.0

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

Diseases related to Pulmonary Arteriovenous Fistulas

Symptoms & Phenotypes for Pulmonary Arteriovenous Fistulas

Human phenotypes related to Pulmonary Arteriovenous Fistulas:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cyanosis 58 31 Occasional (29-5%) HP:0000961
2 pulmonary arteriovenous fistulas 58 31 Very frequent (99-80%) HP:0004952
3 seizures 58 Very rare (<4-1%)
4 heart murmur 58 Occasional (29-5%)
5 dyspnea 58 Frequent (79-30%)
6 myocardial infarction 58 Occasional (29-5%)
7 abnormal bleeding 58 Frequent (79-30%)
8 abnormal thrombosis 58 Occasional (29-5%)
9 pulmonary arterial hypertension 58 Occasional (29-5%)
10 transient ischemic attack 58 Frequent (79-30%)
11 cough 58 Occasional (29-5%)
12 migraine 58 Occasional (29-5%)
13 clubbing of toes 31 HP:0100760
14 hemoptysis 58 Occasional (29-5%)
15 iron deficiency anemia 58 Occasional (29-5%)
16 hypoxemia 58 Frequent (79-30%)
17 epistaxis 58 Occasional (29-5%)
18 liver abscess 58 Very rare (<4-1%)
19 gastrointestinal infarctions 58 Very rare (<4-1%)
20 recurrent abscess formation 58 Very rare (<4-1%)
21 clubbing of fingers 31 HP:0100759
22 pulmonary hemorrhage 58 Occasional (29-5%)
23 brain abscess 58 Occasional (29-5%)
24 palpitations 58 Occasional (29-5%)
25 telangiectasia 58 Very frequent (99-80%)
26 bacterial endocarditis 58 Occasional (29-5%)
27 clubbing 58 Occasional (29-5%)
28 ischemic stroke 58 Frequent (79-30%)
29 hemothorax 58 Frequent (79-30%)
30 pleural empyema 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

Skeletal Feet:
clubbing of toes

Skeletal Hands:
clubbing of fingers

Skin Nails Hair Skin:
no telangiectasis

Cardiovascular Vascular:
pulmonary arteriovenous fistulas

Clinical features from OMIM:


Drugs & Therapeutics for Pulmonary Arteriovenous Fistulas

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

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

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 Studies of Plasma Proteins Derived From Pulmonary Arteriovenous Malformation Patients Unknown status NCT00230672
2 Hypoxemia, Dyspnea, and Exercise Tolerance in Patients With Pulmonary Arteriovenous Malformations Unknown status NCT02436213
3 Hypoxemia, Dyspnea, and Exercise Tolerance in Patients With Pulmonary Arteriovenous Malformations , With and Without Airflow Obstruction Unknown status NCT02458703
4 Correlation of Graded Transthoracic Contrast Echocardiography With Chest CT Findings After Pulmonary Arteriovenous Malformation Embolization in Patients With Hereditary Hemorrhagic Telangiectasia, 2016 Completed NCT02936349
5 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
6 Pulmonary Arteriovenous Malformations (PAVMs) in Hereditary Haemorrhagic Telangiectasia (HHT): Correlations Between Computed Tomography Findings and Cerebral Complications Completed NCT03940014
7 Diagnostic Value of Ultra-low Dose Thoracic Scanner for the Pulmonary Arteriovenous Malformation Detection in HHT Patient Recruiting NCT04108052
8 The Evaluation of Intra-cardiac Shunts in Patients With Pulmonary Arteriovenous Malformations Withdrawn NCT00733759

Search NIH Clinical Center for Pulmonary Arteriovenous Fistulas

Genetic Tests for Pulmonary Arteriovenous Fistulas

Anatomical Context for Pulmonary Arteriovenous Fistulas

MalaCards organs/tissues related to Pulmonary Arteriovenous Fistulas:

Heart, Lung, Brain, Liver, Bone, Spleen, Spinal Cord

Publications for Pulmonary Arteriovenous Fistulas

Articles related to Pulmonary Arteriovenous Fistulas:

(show top 50) (show all 725)
# Title Authors PMID Year
Familial occurrence of congenital pulmonary arteriovenous fistulas in octogenarian siblings without telangiectasis. 61 56
3189185 1988
Efficacy of bubble contrast echocardiography in detecting pulmonary arteriovenous fistulas in children with univentricular heart after total cavopulmonary connection. 61
31916529 2020
CT dose optimization for the detection of pulmonary arteriovenous malformation (PAVM): A phantom study. 61
31932228 2020
Emergency surgery for hemothorax due to a ruptured pulmonary arteriovenous malformation. 61
31933138 2020
Pulmonary arteriovenous malformation exhibiting recanalization >10 years after coil embolization: Two case reports. 61
31914070 2020
Correction to: Preliminary experience with the micro vascular plug for the treatment of pulmonary arteriovenous malformation: case series of four patients. 61
32026121 2020
Diagnostic dilemma in a case of diffuse pulmonary arteriovenous malformation with vascular stenosis! 61
31877288 2019
A Dual Antegrade and Retrograde Approach to Central Pulmonary Arteriovenous Malformation Embolization. 61
31858182 2019
Postembolotherapy Pulmonary Arteriovenous Malformation Follow-Up: A Role for Graded Transthoracic Contrast Echocardiography Prior to High-Resolution Chest CT Scan. 61
31794700 2019
A Large Pulmonary Arteriovenous Malformation. 61
31327834 2019
Pulmonary arteriovenous malformation revealed by a chronic cyanosis. 61
30650027 2019
Exertional hypoxia in a healthy adult: a pulmonary arteriovenous malformation. 61
31645384 2019
Pulmonary Arteriovenous Malformation-Related Embolic Stroke Causing Thalamic Esotropia. 61
31609837 2019
Automatic Remasking of Digital Subtraction Angiography Images in Pulmonary Angiography. 61
31625027 2019
Smoking Significantly Impacts Persistence Rates in Embolized Pulmonary Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia. 61
31361208 2019
Abernethy malformation: Our experience from a tertiary cardiac care center and review of literature. 61
31516281 2019
Fusobacterium osteomyelitis of the femur in a patient with chronic hypoxemia due to pulmonary arteriovenous malformation: A case report. 61
31587978 2019
Paradoxical Embolization via Large Pulmonary Arteriovenous Malformation. 61
31002526 2019
Persistence of Pulmonary Arteriovenous Malformation after Embolization: Another Reason to Quit Smoking. 61
31364958 2019
Pulmonary arteriovenous malformation mimicking a lung mass. 61
31437038 2019
Endovascular Management of Massive Hemoptysis Secondary to Systemic Collaterals in Previously Treated Pulmonary Arteriovenous Malformation. 61
31431148 2019
Pulmonary arteriovenous malformations. 61
30386957 2019
Expansion of pulmonary arteriovenous malformations after grand mal seizures and other circumstances of PAVM growth. 61
31401571 2019
Lack of Growth of Small (≤2 mm Feeding Artery) Untreated Pulmonary Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia. 61
31255500 2019
Tubercular hemoptysis in a young liver transplanted patient: Case report. 61
31415374 2019
Improved differential diagnosis of intracardiac and extracardiac shunts using acoustic intensity mapping of saline contrast studies. 61
31324917 2019
Embolisation of pulmonary arteriovenous malformations using high-frequency jet ventilation: benefits of minimising respiratory motion. 61
31286281 2019
Pulmonary Arteriovenous Malformations: A Rare Cause of Ischemic Stroke. 61
31523570 2019
Efficacy and Safety of AMPLATZER Vascular Plug Type IV for Embolization of Pulmonary Arteriovenous Malformations. 61
30824308 2019
Large pulmonary arteriovenous malformation with paradoxical cerebral infarction. 61
29534345 2019
Retrospective Comparison of Pulmonary Arteriovenous Malformation Embolization with the Polytetrafluoroethylene-Covered Nitinol Microvascular Plug, AMPLATZER Plug, and Coils in Patients with Hereditary Hemorrhagic Telangiectasia. 61
31147241 2019
Recurrence of Pulmonary Arteriovenous Malformation with Non-tuberculous Mycobacteria Infection Caused by Perfusion from the Pulmonary Artery and Bronchial Artery after Coil Embolization. 61
30713314 2019
Pulmonary cyclone: a case of large pulmonary arteriovenous malformation causing paradoxical coronary embolus treated with percutaneous closure device. 61
31071206 2019
Atrial septal aneurysm with rare comorbid pulmonary arteriovenous malformation as aetiology for cryptogenic stroke. 61
31248896 2019
Pulmonary Hypertension that Developed During Treatment for Hepatopulmonary Syndrome and Pulmonary Arteriovenous Malformation. 61
30799344 2019
Patients with in-situ metallic coils and Amplatzer vascular plugs used to treat pulmonary arteriovenous malformations since 1984 can safely undergo magnetic resonance imaging. 61
30894022 2019
Risk mitigation in divers with persistent (patent) foramen ovale. 61
31177512 2019
Hepatic Vein Incorporation Into the Azygos System in Heterotaxy and Interrupted Inferior Vena Cava. 61
31084312 2019
Pulmonary Arteriovenous Malformation. 61
31288922 2019
Follow-up of percutaneous transcatheter closure of pulmonary arteriovenous fistulas. 61
30958441 2019
[Image of the month. Pulmonary arteriovenous malformation: neonatal presentation of Rendu-Osler disease]. 61
30997964 2019
Left upper lobectomy for a large incidental simple arteriovenous malformation. 61
31191141 2019
Hepatic vein redirection to improve pulmonary arteriovenous malformations after Fontan completion in patients with absence of inferior vena cava and hemiazygos continuation. 61
30702184 2019
Hereditary haemorrhagic telangiectasia with multiple complications presenting in an older patient. 61
30295705 2019
The first cohort of prospective Fontan surgical planning patients with follow-up data: How accurate is surgical planning? 61
31264966 2019
A pulmonary arteriovenous malformation treated with percutaneous intervention. 61
30874504 2019
[A rare cause of exertional dyspnea and cyanosis in an adolescent patient: Pulmonary arteriovenous malformation and successful treatment]. 61
30874507 2019
A 10-year-old boy with dyspnea and hypoxia: abernathy malformation masquerading as pulmonary arteriovenous fistula. 61
30744582 2019
Pulmonary arteriovenous malformation in hereditary haemorrhagic telangiectasia. 61
30739085 2019
Patent Foramen Ovale and Hypoxemia. 61
29570476 2019

Variations for Pulmonary Arteriovenous Fistulas

Expression for Pulmonary Arteriovenous Fistulas

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

Pathways for Pulmonary Arteriovenous Fistulas

GO Terms for Pulmonary Arteriovenous Fistulas

Sources for Pulmonary Arteriovenous Fistulas

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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