title: Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension.
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.
authors.affiliation: Service de Pneumologie, Hôpital de Hautepierre, Strasbourg, France. ari.chaouat@chru-strasbourg.fr
authors.forename: A
authors.initials: A
authors.lastname: Chaouat
authors.forename: F
authors.initials: F
authors.lastname: Coulet
authors.forename: C
authors.initials: C
authors.lastname: Favre
authors.forename: G
authors.initials: G
authors.lastname: Simonneau
authors.forename: E
authors.initials: E
authors.lastname: Weitzenblum
authors.forename: F
authors.initials: F
authors.lastname: Soubrier
authors.forename: M
authors.initials: M
authors.lastname: Humbert
mesh_terms: D000328:Adult; D015703:Antigens, CD; D020372:Dexfenfluramine / Q000009:adverse effects*; D000071063:Endoglin; D005260:Female; D017353:Gene Deletion; D018095:Germ-Line Mutation / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D006976:Hypertension, Pulmonary / Q000139:chemically induced*; D010375:Pedigree; D011956:Receptors, Cell Surface; D017366:Serotonin Receptor Agonists / Q000009:adverse effects*; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000235:genetics*; D019010:Vascular Cell Adhesion Molecule-1 / Q000235:genetics*
chemical_list: D015703:Antigens, CD; C064206:ENG protein, human; D000071063:Endoglin; D011956:Receptors, Cell Surface; D017366:Serotonin Receptor Agonists; D019010:Vascular Cell Adhesion Molecule-1; D020372:Dexfenfluramine