Pulmonary arteriovenous malformation

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.



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Narrow down the case reports



Total: 344 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(48.9%)		 28859030
 Treatment of Refractory Infantile Hemangiomas and Pulmonary Hypertension With Sirolimus in a Pediatric Patient.
Hutchins KK, Ross RD, Kobayashi D, Martin A, Rajpurkar M.
J Pediatr Hematol Oncol. 2017;39(7):e391-e393.
Hypertension Hepatosplenomegaly Anemia
Child, Preschool Dyskeratosis Congenita Females Hemangioma Homo sapiens Pulmonary Hypertension Skin Neoplasms
2
(42.9%)		 25595875
 [Bevacizumab: a new success in hereditary hemorrhagic telangiectasia].
Bennesser Alaoui H, Lehraiki M, Hamaz S, El Attar N, Fakhreddine N, Serraj K.
Rev Med Interne. 2015;36(9):623-5.
Epistaxis Telangiectasia Iron deficiency anemia
ACVRL1 ENG SMAD4 VEGFA
Blood Transfusion Homo sapiens Male
3
(39.7%)		 6377893
 Central nervous system infections associated with hereditary hemorrhagic telangiectasia.
Press OW, Ramsey PG.
Am J Med. 1984;77(1):86-92.
Cyanosis Fever Leukocytosis
Brain Abscess Females Homo sapiens Meningitis
4
(39.2%)		 15754356
 Gastric juvenile polyposis associated with germline SMAD4 mutation.
Shikata K, Kukita Y, Matsumoto T, Esaki M, Yao T, Mochizuki Y, Hayashi K, Iida M.
Am J Med Genet A. 2005;134(3):326-9.
Anemia Vascular dilatation Hypoproteinemia
Adult DNA Mutational Analysis DNA, Neoplasm DNA-Binding Proteins Females Germ-Line Mutation Homo sapiens Smad4 Protein Stomach Neoplasms Trans-Activators
5
(38.0%)		 27225226
(4880959)
 Definite hereditary hemorrhagic telangiectasia in a 60-year-old black Kenyan woman: a case report.
Kiyeng JC, Siika A, Koech C, Bloomfield GS.
J Med Case Rep. 2016;10(1):126.
Epistaxis Hepatomegaly
Antifibrinolytic Agents Blood Transfusion Compression Bandages Echocardiography Epistaxis Females Ferrous Compounds Hematinics Homo sapiens Kenya Liver Middle Aged X-Ray Computed Tomography
6
(37.6%)		 15552975
 Large pulmonary arteriovenous malformation with hyperammonemia.
Takuwa T, Yoshioka S, Miyata Y, Fujisaki S, Zenke Y, Asahara T.
Jpn J Thorac Cardiovasc Surg. 2004;52(10):484-7.
Right-to-left shunt Anemia Hyperammonemia
Females Homo sapiens Hyperammonemia Middle Aged
7
(35.1%)		 26521904
 Huge Pulmonary Arteriovenous Malformation, Venous Thromboembolism and Anticoagulation Treatment in a Patient with Hereditary Hemorrhagic Telangiectasia.
Serra MM, Ferreyro BL, Peralta O, Levy Yeyati E, Causada Calo N, Garcia-Botta T, Andresik D, Rabellino M, Garcia-Monaco R.
Intern Med. 2015;54(21):2745-8.
Cyanosis Thromboembolism Pulmonary embolism
Anticoagulants Cyanosis Embolization, Therapeutic Females Homo sapiens Hypoxia Incidence Multidetector Computed Tomography Venous Thromboembolism
7
(35.1%)		 25606217
 The blue man who presented with a stroke.
Koh K, Wong M.
Malays Fam Physician. 2011;6(1):29-31.
Epistaxis Cyanosis Stroke
7
(35.1%)		 15932469
 Rendu-Osler-Weber syndrome presenting with pulmonary arteriovenous fistula.
Halefoglu AM.
Australas Radiol. 2005;49(3):242-5.
Epistaxis Cyanosis Pulmonary arteriovenous fistulas
Contrast Media Gadolinium DTPA Homo sapiens Lung Magnetic Resonance Angiography Magnetic Resonance Imaging Male Middle Aged
10
(33.5%)		 15009767
 Transcatheter coil closure of pulmonary arteriovenous malformations in children.
Abushaban L, Uthaman B, Endrys J.
J Interv Cardiol. 2004;17(1):23-6.
Epistaxis Cyanosis Abscess
Child, Preschool Cyanosis Echocardiography Embolization, Therapeutic Females Homo sapiens Infant Male
        

Phenotype(s) retrieved from Orphanet

    Total: 0

HPO ID Term Frequency


Phenotype(s) retrieved from case reports

    Total: 63

HPO ID Term # of case reports
HP:0030049 Brain abscess 23
HP:0025615 Abscess 20
HP:0000961 Cyanosis 18
HP:0001694 Right-to-left shunt 18
HP:0001297 Stroke 17
HP:0002105 Hemoptysis 12
HP:0012418 Hypoxemia 11
HP:0001009 Telangiectasia 10
HP:0012151 Hemothorax 10
HP:0000822 Hypertension 8
HP:0002094 Dyspnea 7
HP:0002140 Ischemic stroke 7
HP:0000421 Epistaxis 6
HP:0001907 Thromboembolism 5
HP:0040223 Pulmonary hemorrhage 5
HP:0001655 Patent foramen ovale 4
HP:0002204 Pulmonary embolism 4
HP:0001750 Single ventricle 3
HP:0002617 Dilatation 3
HP:0001643 Patent ductus arteriosus 2
HP:0001658 Myocardial infarction 2
HP:0001748 Polysplenia 2
HP:0002076 Migraine 2
HP:0002326 Transient ischemic attack 2
HP:0004947 Arteriovenous fistula 2
HP:0012378 Fatigue 2
HP:0031225 Intrapulmonary shunt 2
HP:0031625 Pseudoaneurysm 2
HP:0100026 Arteriovenous malformation 2
HP:0100632 Pulmonary sequestration 2
HP:0100749 Chest pain 2
HP:0001217 Clubbing 1
HP:0001250 Seizures 1
HP:0001394 Cirrhosis 1
HP:0001629 Ventricular septal defect 1
HP:0001635 Congestive heart failure 1
HP:0001693 Cardiac shunt 1
HP:0001718 Mitral stenosis 1
HP:0001903 Anemia 1
HP:0001987 Hyperammonemia 1
HP:0002099 Asthma 1
HP:0002170 Intracranial hemorrhage 1
HP:0002315 Headache 1
HP:0002625 Deep venous thrombosis 1
HP:0002637 Cerebral ischemia 1
HP:0002754 Osteomyelitis 1
HP:0002870 Obstructive sleep apnea 1
HP:0003095 Septic arthritis 1
HP:0005110 Atrial fibrillation 1
HP:0005317 Increased pulmonary vascular resistance 1
HP:0005942 Desquamative interstitial pneumonitis 1
HP:0006574 Hepatic arteriovenous malformation 1
HP:0007185 Loss of consciousness 1
HP:0010773 Partial anomalous pulmonary venous return 1
HP:0012735 Cough 1
HP:0030853 Heterotaxy 1
HP:0031273 Shock 1
HP:0032169 Severe infection 1
HP:0032181 Anomalous hepatic venous drainage into the left atrium 1
HP:0100537 Fasciitis 1
HP:0100576 Amaurosis fugax 1
HP:0100579 Mucosal telangiectasiae 1
HP:0100584 Endocarditis 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID