title: Pulmonary arterial hypertension as the first manifestation in a patient with hereditary hemorrhagic telangiectasia.
abstract: A 17-year-old Japanese girl visited our hospital for an evaluation of exertional dyspnea. A diagnosis of pulmonary arterial hypertension (PAH) was confirmed based on the findings of right heart catheterization. Detailed questioning revealed a family history of hereditary hemorrhagic telangiectasia (HHT), and a genetic mutation analysis disclosed a mutation in the activin receptor-like kinase 1 gene (ACVRL1). The patient was finally diagnosed with HHT according to the Curaçao diagnostic criteria eight years after the diagnosis of PAH. This case supports previous reports indicating that signs of PAH can be the first manifestation of disease in ACVRL1 mutation carriers.
authors.affiliation: Department of Respirology, Graduate School of Medicine, Chiba University, Japan.
authors.forename: Tsukasa
authors.initials: T
authors.lastname: Ishiwata
authors.forename: Jiro
authors.initials: J
authors.lastname: Terada
authors.forename: Nobuhiro
authors.initials: N
authors.lastname: Tanabe
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Abe
authors.forename: Toshihiko
authors.initials: T
authors.lastname: Sugiura
authors.forename: Kenji
authors.initials: K
authors.lastname: Tsushima
authors.forename: Yuji
authors.initials: Y
authors.lastname: Tada
authors.forename: Seiichiro
authors.initials: S
authors.lastname: Sakao
authors.forename: Yasunori
authors.initials: Y
authors.lastname: Kasahara
authors.forename: Norifumi
authors.initials: N
authors.lastname: Nakanishi
authors.forename: Hiroko
authors.initials: H
authors.lastname: Morisaki
authors.forename: Koichiro
authors.initials: K
authors.lastname: Tatsumi
mesh_terms: D030301:Activin Receptors, Type II / Q000235:genetics*; D000293:Adolescent; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D006976:Hypertension, Pulmonary / Q000175:diagnosis*; D009154:Mutation; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000175:diagnosis* / Q000235:genetics*
chemical_list: C425364:ACVRL1 protein, human; D030301:Activin Receptors, Type II