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Canadian Journal of Respiratory, Critical Care, and Sleep Medicine
Revue canadienne des soins respiratoires et critiques et de la médecine du sommeil
Volume 7, 2023 - Issue 3
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Original Research

Neurologic conditions in Hereditary Hemorrhagic Telangiectasia with pulmonary arteriovenous malformations: Database study

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Pages 133-139 | Received 16 Jan 2023, Accepted 27 Apr 2023, Published online: 24 May 2023

References

  • Shovlin CL, Guttmacher AE, Buscarini E, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet. 2000;91(1):66–67. doi:10.1002/(SICI)1096-8628(20000306)91:1<66::AID-AJMG12>3.0.CO;2-P.
  • Faughnan ME, Palda VA, Garcia-Tsao G, et al. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. J Med Genet. 2011;48(2):73–87. doi:10.1136/jmg.2009.069013.
  • McDonald J, Bayrak-Toydemir P, Pyeritz RE. Hereditary hemorrhagic telangiectasia: An overview of diagnosis, management, and pathogenesis. Genet Med. 2011;13(7):607–616. doi:10.1097/GIM.0b013e3182136d32.
  • Chowdhury FN, Chandrarathne GS, Masilamani KD, et al. Links between strokes and hereditary hemorrhagic telangiectasia: A population-based study. Can J Neurol Sci. 2019;46(1):44–50. doi:10.1017/cjn.2018.360.
  • Faughnan ME, Granton JT, Young LH. The pulmonary vascular complications of hereditary haemorrhagic telangiectasia. Eur Respir J. 2009;33(5):1186–1194. doi:10.1183/09031936.00061308.
  • Robert F, Desroches-Castan A, Bailly S, Dupuis-Girod S, Feige JJ. Future treatments for hereditary hemorrhagic telangiectasia. Orphanet J Rare Dis. 2020;15(1):4. doi:10.1186/s13023-019-1281-4.
  • Farooqui M, Suriya S, Qeadan F, et al. Cerebrovascular and cardiovascular disease burden in patients with hereditary hemorrhagic telangiectasia. Neurol Sci. 2021;42(12):5117–5122. doi:10.1007/s10072-021-05135-z.
  • Faughnan ME, Mager JJ, Hetts SW, et al. Second international guidelines for the diagnosis and management of hereditary hemorrhagic telangiectasia. Ann Intern Med. 2020;173(12):989–1001. doi:10.7326/M20-1443.
  • Dupuis-Girod S, Cottin V, Shovlin CL. The lung in hereditary hemorrhagic telangiectasia. Respiration. 2017;94(4):315–330. doi:10.1159/000479632.
  • Kritharis A, Al-Samkari H, Kuter DJ. Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist’s perspective. Haematologica. 2018;103(9):1433–1443. doi:10.3324/haematol.2018.193003.
  • Grand’Maison A. Hereditary hemorrhagic telangiectasia. CMAJ Can Med Assoc J. 2009;180(8):833.
  • Shovlin CL. Pulmonary arteriovenous malformations. Am J Respir Crit Care Med. 2014;190(11):1217–1228. doi:10.1164/rccm.201407-1254CI.
  • Vorselaars VMM, Velthuis S, Snijder RJ, et al. Follow-up of pulmonary right-to-left shunt in hereditary haemorrhagic telangiectasia. Eur Respir J. 2016;47(6):1750–1757. doi:10.1183/13993003.01588-2015.
  • Agarwal J, LaBranche J, Dhillon S, Allison WT, Jeerakathil T, Vethanayagam D. Neurologic complications in HHT with pulmonary arteriovenous malformations: Systematic review. Can J Neurol Sci. 2022;1–12. doi:10.1017/cjn.2022.80.
  • Velthuis S, Buscarini E, van Gent MWF, et al. Grade of pulmonary right-to-left shunt on contrast echocardiography and cerebral complications: A striking association. Chest. 2013;144(2):542–548. doi:10.1378/chest.12-1599.
  • Velthuis S, Buscarini E, Mager JJ, et al. Predicting the size of pulmonary arteriovenous malformations on chest computed tomography: a role for transthoracic contrast echocardiography. Eur Respir J. 2014;44(1):150–159. doi:10.1183/09031936.00133713.
  • Velthuis S, Vorselaars VMM, Gent Mwf Van, Westermann CJJ, Snijder RJ, Mager JJ, et al. Role of transthoracic contrast echocardiography in the clinical diagnosis of hereditary hemorrhagic telangiectasia. CHEST. 2013;144(6):1876–1882. doi:10.1378/chest.13-0716.
  • Boother EJ, Brownlow S, Tighe HC, Bamford KB, Jackson JE, Shovlin CL. Cerebral abscess associated with odontogenic bacteremias, hypoxemia, and iron loading in immunocompetent patients with right-to-left shunting through pulmonary arteriovenous malformations. Clin Infect Dis. 2017;65(4):595–603. doi:10.1093/cid/cix373.
  • Etievant J, Si-Mohamed S, Vinurel N, et al. Pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia: Correlations between computed tomography findings and cerebral complications. Eur Radiol. 2018;28(3):1338–1344. doi:10.1007/s00330-017-5047-x.
  • Post MC, Letteboer TGW, Mager JJ, Plokker TH, Kelder JC, Westermann CJJ. A pulmonary right-to-left shunt in patients with hereditary hemorrhagic telangiectasia is associated with an increased prevalence of migraine. Chest. 2005;128(4):2485–2489. doi:10.1378/chest.128.4.2485.
  • Angriman F, Ferreyro BL, Wainstein EJ, Serra MM. Pulmonary arteriovenous malformations and embolic complications in patients with hereditary hemorrhagic telangiectasia. Arch Bronconeumol Engl Ed. 2014;50(7):301–304. doi:10.1016/j.arbr.2014.05.009.
  • Kawaguchi T, Fujita S, Yamada H, Nishida Y, Izawa I. Multiple cerebral and pulmonary arteriovenous malformations in association with brain and subcutaneous abscesses: a possible variant of hereditary hemorrhagic telangiectasia–case report. Neurol Med Chir (Tokyo). 1990;30(4):272–276. doi:10.2176/nmc.30.272.
  • Bodilsen J. Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations in brain abscess patients: a nationwide, population-based matched cohort study. Clin Microbiol Infect. 2020;26(8):1093.e1-1093–e3. doi:10.1016/j.cmi.2020.03.011.
  • Brinjikji W, Nasr DM, Wood CP, Iyer VN. Pulmonary arteriovenous malformations are associated with silent brain infarcts in hereditary hemorrhagic telangiectasia patients. Cerebrovasc Dis. 2017;44(3-4):179–185. doi:10.1159/000478734.
  • Yassi N, Yan B, Dowling R, Mitchell PJ. A rare cause of embolic stroke in hereditary hemorrhagic telangiectasia. J Stroke Cerebrovasc Dis. 2014;23(5):1245–1246. doi:10.1016/j.jstrokecerebrovasdis.2013.07.037.
  • Kjeldsen AD, Tørring PM, Nissen H, Andersen PE. Cerebral abscesses among Danish patients with hereditary haemorrhagic telangiectasia. Acta Neurol Scand. 2014;129(3):192–197. doi:10.1111/ane.12167.
  • Morier J, Goncalves-Matoso V, Michel P. Multiple pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia complicated by embolic strokes. Arch Neurol. 2011;68(5):672. doi:10.1001/archneurol.2011.96.
  • Post MC, Gent MWF, van Plokker HWM, et al. Pulmonary arteriovenous malformations associated with migraine with aura. Eur Respir J. 2009;34(4):882–887. doi:10.1183/09031936.00179008.
  • Thenganatt J, Schneiderman J, Hyland RH, Edmeads J, Mandzia JL, Faughnan ME. Migraines linked to intrapulmonary right-to-left shunt. Headache. 2006;46(3):439–443. doi:10.1111/j.1526-4610.2006.00291.x.
  • Manawadu D, Vethanayagam D, Ahmed SN. Hereditary hemorrhagic telangiectasia: transient ischemic attacks. CMAJ. 2009;180(8):836–837. doi:10.1503/cmaj.081550.
  • Saboo SS, Chamarthy M, Bhalla S, et al. Pulmonary arteriovenous malformations: diagnosis. Cardiovasc Diagn Ther. 2018;8(3):325–337. doi:10.21037/cdt.2018.06.01.
  • Cottin V, Plauchu H, Bayle JY, Barthelet M, Revel D, Cordier JF. Pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia. Am J Respir Crit Care Med. 2004;169(9):994–1000. doi:10.1164/rccm.200310-1441OC.
  • de Gussem EM, Faughnan ME. Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia. In: Cottin V, Cordier JF, Richeldi L, eds. Orphan Lung Diseases: A Clinical Guide to Rare Lung Disease. London: Springer;2015:191–200. doi:10.1007/978-1-4471-2401-6_12.
  • Shovlin CL, Jackson JE, Bamford KB, et al. Primary determinants of ischaemic stroke/brain abscess risks are independent of severity of pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia. Thorax. 2008;63(3):259–266. doi:10.1136/thx.2007.087452.
  • Major T, Bereczky Z, Gindele R, et al. Current status of clinical and genetic screening of hereditary hemorrhagic telangiectasia families in Hungary. JCM. 2021;10(17):3774. doi:10.3390/jcm10173774.
  • Donaldson JW, McKeever TM, Hall IP, Hubbard RB, Fogarty AW. The UK prevalence of hereditary haemorrhagic telangiectasia and its association with sex, socioeconomic status and region of residence: a population-based study. Thorax. 2014;69(2):161–167. doi:10.1136/thoraxjnl-2013-203720.
  • Hetts SW, Shieh JT, Ohliger MA, Conrad MB. Hereditary hemorrhagic telangiectasia: The convergence of genotype, phenotype, and imaging in modern diagnosis and management of a multisystem disease. Radiology. 2021;300(1):17–30. doi:10.1148/radiol.2021203487.
  • Lacombe P, Lacout A, Marcy PY, et al. Diagnosis and treatment of pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: An overview. Diagn Interv Imaging. 2013;94(9):835–848. doi:10.1016/j.diii.2013.03.014.
  • Mu W, Cordner ZA, Yuqi Wang K, et al. Characterization of pulmonary arteriovenous malformations in ACVRL1 versus ENG mutation carriers in hereditary hemorrhagic telangiectasia. Genet Med. 2018;20(6):639–644. doi:10.1038/gim.2017.160.
  • Ananiadis T, Faughnan ME, Clark D, et al. Neurovascular complications and pulmonary arteriovenous malformation feeding artery size. Annals ATS. 2022;19 (8):1432–1435. doi:10.1513/AnnalsATS.202202-130RL

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