Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension.
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.
Chaouat
A
A
Service de Pneumologie, Hôpital de Hautepierre, Strasbourg, France. ari.chaouat@chru-strasbourg.fr
Coulet
F
F
Favre
C
C
Simonneau
G
G
Weitzenblum
E
E
Soubrier
F
F
Humbert
M
M
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*
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