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Case Reports
. 2004 May;59(5):446-8.
doi: 10.1136/thx.2003.11890.

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

A Chaouat  1 , F Coulet, C Favre, G Simonneau, E Weitzenblum, F Soubrier, M Humbert
Affiliations
Case Reports

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

A Chaouat et al. Thorax. 2004 May.

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-beta signalling pathway in this condition.

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