MCID: PLM051
MIFTS: 19

Pulmonary Arterio-Veinous Fistula

Categories: Cardiovascular diseases, Rare diseases

Aliases & Classifications for Pulmonary Arterio-Veinous Fistula

MalaCards integrated aliases for Pulmonary Arterio-Veinous Fistula:

Name: Pulmonary Arterio-Veinous Fistula 53
Pulmonar Arteriovenous Aneurysm 53
Pulmonary Arteriovenous Fistula 53

Classifications:



Summaries for Pulmonary Arterio-Veinous Fistula

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2038DefinitionPulmonary 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.EpidemiologyPrevalence is estimated at around 1/ 2,600. There is a minor female predominance.Clinical descriptionClinical 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).EtiologyThe 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 methodsDiagnosis 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 diagnosisDifferential diagnoses include pulmonary artery aneurysms, pulmonary varices, bronchoceles and vascular tumors.Genetic counselingGenetic 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 treatmentPercutaneous 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.PrognosisWith 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 Arterio-Veinous Fistula, also known as pulmonar arteriovenous aneurysm, is related to pulmonary arteriovenous fistulas and pulmonary arteriovenous malformation. Affiliated tissues include lung, heart and brain.

Related Diseases for Pulmonary Arterio-Veinous Fistula

Diseases related to Pulmonary Arterio-Veinous Fistula via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 108)
# Related Disease Score Top Affiliating Genes
1 pulmonary arteriovenous fistulas 12.7
2 pulmonary arteriovenous malformation 11.8
3 hereditary hemorrhagic telangiectasia 10.8
4 telangiectasis 10.8
5 cyanosis, transient neonatal 10.8
6 arteriovenous malformation 10.6
7 polycythemia 10.5
8 pulmonary hypertension 10.5
9 weber syndrome 10.5
10 patent foramen ovale 10.5
11 heart septal defect 10.3
12 mitral valve stenosis 10.3
13 atrial heart septal defect 10.3
14 intracranial embolism 10.3
15 telangiectasia, hereditary hemorrhagic, type 1 10.2
16 hemiplegia 10.2
17 thrombophilia due to thrombin defect 10.2
18 stroke, ischemic 10.2
19 transient cerebral ischemia 10.2
20 hemangioma 10.2
21 liver cirrhosis 10.2
22 cerebrovascular disease 10.2
23 arteriovenous malformations of the brain 10.1
24 migraine with or without aura 1 10.1
25 acquired polycythemia 10.1
26 fibrosis of extraocular muscles, congenital, 1 10.0
27 renal cell carcinoma, nonpapillary 10.0
28 pneumothorax, primary spontaneous 10.0
29 schistosoma mansoni infection, susceptibility/ 10.0
30 tetralogy of fallot 10.0
31 patent ductus arteriosus 1 10.0
32 aphasia 10.0
33 endocarditis 10.0
34 schistosomiasis 10.0
35 pneumothorax 10.0
36 angiodysplasia 10.0
37 choriocarcinoma 10.0
38 tricuspid valve insufficiency 10.0
39 cavernous hemangioma 10.0
40 pneumonia 10.0
41 congestive heart failure 10.0
42 lung disease 10.0
43 pulmonary embolism 10.0
44 dextrocardia 10.0
45 single ventricular heart 10.0
46 aneurysm 10.0
47 angiomatosis 10.0
48 hypoxia 10.0
49 virus-associated trichodysplasia spinulosa 10.0
50 congenital arteriovenous fistula 10.0

Graphical network of the top 20 diseases related to Pulmonary Arterio-Veinous Fistula:



Diseases related to Pulmonary Arterio-Veinous Fistula

Symptoms & Phenotypes for Pulmonary Arterio-Veinous Fistula

Drugs & Therapeutics for Pulmonary Arterio-Veinous Fistula

Search Clinical Trials , NIH Clinical Center for Pulmonary Arterio-Veinous Fistula

Genetic Tests for Pulmonary Arterio-Veinous Fistula

Anatomical Context for Pulmonary Arterio-Veinous Fistula

MalaCards organs/tissues related to Pulmonary Arterio-Veinous Fistula:

41
Lung, Heart, Brain, Liver, Eye

Publications for Pulmonary Arterio-Veinous Fistula

Articles related to Pulmonary Arterio-Veinous Fistula:

(show top 50) (show all 516)
# Title Authors PMID Year
1
[A Total Right Heart Bypass Operation for Polysplenia with Unilateral Pulmonary Arteriovenous Fistula;the Usefulness of the Anastomosis of the Hepatic Vein to the Azygous Vein Combined with Dilatable Pulmonary Artery Banding]. 38
31353348 2019
2
Paradoxical Brain Embolism Caused by Isolated Pulmonary Arteriovenous Fistula Successfully Treated with Recombinant Tissue Plasminogen Activator. 38
31006519 2019
3
Occurrence of a primary liver cancer with an unusual histologic appearance as a late Fontan complication. 38
30857653 2019
4
Long-surviving Anomalous Origin of the Right Pulmonary Artery from the Ascending Aorta Complicated with Pulmonary Arteriovenous Fistula. 38
31178488 2019
5
Pulmonary arteriovenous fistula: a rare cause of spontaneous hemothorax. 38
31285905 2019
6
Medical management of haemorrhagic hereditary telangiectasia in adult patients. 38
30502301 2019
7
A 10-year-old boy with dyspnea and hypoxia: abernathy malformation masquerading as pulmonary arteriovenous fistula. 38
30744582 2019
8
Complex pulmonary arteriovenous fistula in mother and daughter: Case report. 38
30633165 2019
9
Clinical, echocardiographic and advanced imaging characteristics of 13 dogs with systemic-to-pulmonary arteriovenous fistulas. 38
30526957 2018
10
Recurrent minor strokes/TIA with a right to left shunt. 38
29991544 2018
11
Pulmonary arteriovenous fistula complicated by venous thromboembolism and paradoxical cerebral infarction during early pregnancy. 38
29437680 2018
12
A ruptured pulmonary arteriovenous fistula after laparoscopic operation. 38
29050800 2017
13
Recurrent Stroke in a Young Woman with a Single Pulmonary Arteriovenous Fistula: An Unusual Association. 38
29422852 2017
14
Development of a Pulmonary Arteriovenous Fistula after a Modified Glenn Shunt in Tetralogy of Fallot and Its Resolution after Shunt Takedown in a 57-Year-Old Patient. 38
28593160 2017
15
A Case Report on Pulmonary Arteriovenous Fistula with Recurrent Cerebral Infarction. 38
28671864 2017
16
Acquired Pulmonary Arteriovenous Fistula within Metastasis from Choriocarcinoma: A Case Report. 38
28878648 2017
17
Renal thromboembolism from a large pulmonary artery to a pulmonary vein fistula in an asymptomatic adolescent. 38
27641361 2017
18
Detection of pulmonary arteriovenous fistula with three-dimensional computed tomographic angiography. 38
26896249 2016
19
Pulmonary Arteriovenous Fistula: Clinical and Histologic Spectrum of Four Cases. 38
27156513 2016
20
Anesthetic management of a pediatric patient with pulmonary arteriovenous fistula undergoing liver transplantation - a case report. 38
27126572 2016
21
Bihemispheric Paradoxical Cerebral Embolism in a Patient with Pulmonary Thromboembolism and Presumptive Fistula Right-to-Left Shunt. 38
27105566 2016
22
Salvage pneumonectomy for pulmonary arteriovenous malformation in a 12-year-old boy with brain abscess and hemiparesis: A fatal outcome. 38
27051111 2016
23
Half a Century's Experience With the Superior Cavopulmonary (Classic Glenn) Shunt. 38
26603022 2016
24
Pulmonary Arteriovenous Fistula with Pulmonary Hypertension - To Close or Not to Close? 38
27122941 2016
25
A ruptured pulmonary arteriovenous fistula. 38
26048269 2015
26
Embolization of a complex pulmonary arteriovenous fistula and coarctation treatment with covered stent at the same session. 38
27186709 2015
27
A case of Trousseau's syndrome and pulmonary arteriovenous fistula: a malignant combination for ischemic stroke. 38
25739946 2015
28
Pulmonary Valvuloplasty by Autologous Pericardium in a Patient with Active Infectious Endocarditis and Osler's Disease. 38
26901917 2015
29
Prenatal diagnosis of left pulmonary artery-to-pulmonary vein fistula and its successful surgical repair in a neonate. 38
25873833 2015
30
Surgical management of pulmonary arteriovenous fistula in a female patient. 38
25579986 2015
31
Paradoxical brain embolism in a young man: is it only a patent foramen ovale? 38
25666776 2015
32
[Embolization of pulmonary arteriovenous malformation causing hypoxemia in a 7-year-old child]. 38
25435273 2015
33
Catheter occlusion of a pulmonary arteriovenous fistula in a patient 65 years old with paradoxical ischemic stroke: 2-year follow-up. 38
25234685 2014
34
Percutaneous device closure of Abernethy malformation--a treatable cause of hepatopulmonary syndrome. 38
24248907 2014
35
[Etiology, clinical features, and diagnosis and treatment of recurrent hemoptysis in children]. 38
24661522 2014
36
Transcatheter device occlusion of a large pulmonary arteriovenous fistula by exit closure: the road less travelled. 38
24402810 2014
37
Pulmonary arteriovenous fistula occurring within a pulmonary cyst. 38
24531092 2014
38
Usefulness of dynamic volume scanning with 320-row CT in detecting recanalization of pulmonary arteriovenous fistula after coil embolization. 38
23741638 2013
39
[A case of spectacular shrinking deficit caused by paradoxical cerebral embolism secondary to pulmonary arteriovenous fistula]. 38
24323935 2013
40
Stroke after percutaneous transhepatic variceal obliteration of esophageal varix in Caroli syndrome. 38
24348664 2013
41
Echocardiographic diagnosis and transcatheter occlusion of pulmonary arteriovenous fistula in cyanotic newborn. 38
23356687 2013
42
[Late presentation of posttraumatic pulmonary arteriovenous fistulea occlusion with septal occluder device]. 38
24347222 2013
43
Transcatheter closure of abnormal vessels and arteriovenous fistulas with the Amplatzer vascular plug 4 in patients with congenital heart disease. 38
23591802 2013
44
Early experience on peripheral vascular application of the vascular plugs. 38
24206877 2013
45
Rare variant of pulmonary arteriovenous fistula: direct communication between right pulmonary artery and left atrium associated with aortopulmonary collaterals. 38
23810886 2013
46
Percutaneous device closure of persistent ductus venosus presenting with hemoptysis. 38
24688239 2013
47
A patient with rheumatic heart disease presented with central cyanosis due to acquired methemoglobinemia during late pregnancy - A rare association. 38
24027374 2013
48
Right axillary artery bullet embolus and the formation of a pulmonary arteriovenous fistula after a gunshot wound to the back. 38
23574837 2013
49
Bubbles in a row: finding of pulmonary arteriovenous fistula on transesophageal echocardiography. 38
23560145 2013
50
Stroke in a patient with pulmonary arteriovenous fistula: A case report study. 38
24520551 2013

Variations for Pulmonary Arterio-Veinous Fistula

Expression for Pulmonary Arterio-Veinous Fistula

Search GEO for disease gene expression data for Pulmonary Arterio-Veinous Fistula.

Pathways for Pulmonary Arterio-Veinous Fistula

GO Terms for Pulmonary Arterio-Veinous Fistula

Sources for Pulmonary Arterio-Veinous Fistula

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58 OMIM via Orphanet
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64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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