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  • Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension

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Case Report
Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension
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  1. A Chaouat1,
  2. F Coulet2,
  3. C Favre1,
  4. G Simonneau3,
  5. E Weitzenblum1,
  6. F Soubrier2,
  7. M Humbert3
  1. 1Service de Pneumologie, Hôpital de Hautepierre, Strasbourg, France
  2. 2Laboratoire de Génétique Moléculaire, Hôpital Tenon, Assistance Publique-Hôpitaux de Paris, France
  3. 3UPRES EA2705, Service de Pneumologie et Réanimation Respiratoire, Hôpital Antoine-Béclère, Université Paris-Sud, Assistance Publique-Hôpitaux de Paris, Clamart, France
  1. Correspondence to:
    Dr A Chaouat
    Service de Pneumologie, Hôpital de Hautepierre, Avenue Molière, 67098 Strasbourg Cedex, France; ari.chaouatchru-strasbourg.fr

Abstract

Dexfenfluramine associated pulmonary arterial hypertension occurring in a patient with hereditary haemorrhagic telangiectasia related to a mutation within the endoglin gene is described. This report highlights the critical role of the TGF-β signalling pathway in this condition.

  • pulmonary arterial hypertension
  • hereditary haemorrhagic telangiectasia
  • dexfenfluramine
  • endoglin

https://doi.org/10.1136/thx.2003.11890

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    Footnotes

    • This study was supported by grants from Legs Poix, Université Paris-Sud, AFM and INSERM.