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

A Chaouat; F Coulet; C Favre; G Simonneau; E Weitzenblum; F Soubrier; M Humbert

doi:10.1136/thx.2003.11890

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

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

Authors

A Chaouat¹, F Coulet, C Favre, G Simonneau, E Weitzenblum, F Soubrier, M Humbert

Affiliation

¹ Service de Pneumologie, Hôpital de Hautepierre, Strasbourg, France. [email protected]

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Antigens, CD
Dexfenfluramine / adverse effects*
Endoglin
Female
Gene Deletion
Germ-Line Mutation / genetics*
Heterozygote
Humans
Hypertension, Pulmonary / chemically induced*
Pedigree
Receptors, Cell Surface
Serotonin Receptor Agonists / adverse effects*
Telangiectasia, Hereditary Hemorrhagic / genetics*
Vascular Cell Adhesion Molecule-1 / genetics*

Substances

Antigens, CD
ENG protein, human
Endoglin
Receptors, Cell Surface
Serotonin Receptor Agonists
Vascular Cell Adhesion Molecule-1
Dexfenfluramine