Pulmonary arteriovenous malformations (pAVM)

Evidence-based neurology checklist on pulmonary arteriovenous malformations (pavm): Genetics mutations Endoglin gene: on chromosome 9 Activin receptor-like kinase 1 gene: on chromosome 12 Cardiorespiratory features Neurological presentations Systemic features 100% oxygen screening test…

Genetics mutations

  • Endoglin gene: on chromosome 9
  • Activin receptor-like kinase 1 gene: on chromosome 12

Cardiorespiratory features

Neurological presentations

Systemic features

100% oxygen screening test

Investigations

Treatment

Synonym: of hereditary haemorrhagic telangiectasia (HHT)

References

  1. Trerotola SO, Pyeritz RE. PAVM embolization: an update. Am J Roentgenol 2010; 195:837-845.
  2. Iqbal M, Rossoff LJ, Steinberg HN, Marzouk KA, Siegel DN. Pulmonary arteriovenous malformations: a clinical review. Postgrad Med J 2000; 76:390-394.
  3. Topiwala KK, Patel SD, Saver JL, Streib CD, Shovlin CL. Ischemic stroke and pulmonary arteriovenous malformations: a review. Neurology 2022; 98:188-198.
  4. 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.

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