Pulmonary arteriovenous malformations (pAVM)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Pulmonary arteriovenous malformations (pAVM). Endoglin gene: on chromosome 9. Fully referenced neurology checklist.
Genetics mutations
- Endoglin gene: on chromosome 9
- Activin receptor-like kinase 1 gene: on chromosome 12
Cardiorespiratory features
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Neurological presentations
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Systemic features
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100% oxygen screening test
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Investigations
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Treatment
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Synonym: of hereditary haemorrhagic telangiectasia (HHT)
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References
- Trerotola SO, Pyeritz RE. PAVM embolization: an update. Am J Roentgenol 2010; 195:837-845.
- Iqbal M, Rossoff LJ, Steinberg HN, Marzouk KA, Siegel DN. Pulmonary arteriovenous malformations: a clinical review. Postgrad Med J 2000; 76:390-394.
- Topiwala KK, Patel SD, Saver JL, Streib CD, Shovlin CL. Ischemic stroke and pulmonary arteriovenous malformations: a review. Neurology 2022; 98:188-198.
- Shovlin CL, Letarte M. Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms. Thorax 1999; 54:714-729.
