title: Pulmonary arterial hypertension in a patient with Cowden syndrome and the PTEN mutation.
abstract: The pathogenesis of pulmonary arterial hypertension (PAH) exhibits many neoplastic-like features. Cowden syndrome is a difficult-to-recognize heritable cancer syndrome caused by a germline mutation in the phosphatase-and-tensin homolog deleted on the chromosome 10 (PTEN) gene. PTEN regulation has been implicated in cancer development and, more recently, PAH pathogenesis. Here we report a case of PAH in a patient with Cowden syndrome and the response to pulmonary vasodilators.
authors.affiliation: Medicine Institute, Cleveland Clinic, Cleveland, Ohio, USA.
authors.forename: Duc
authors.initials: D
authors.lastname: Ha
authors.affiliation: Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio, USA.
authors.forename: Jessica
authors.initials: J
authors.lastname: Mester
authors.affiliation: Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio, USA ; Department of Genetics and Genome Sciences and Comprehensive Cancer Center, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.
authors.forename: Charis
authors.initials: C
authors.lastname: Eng
authors.affiliation: Respiratory Institute, Cleveland Clinic, Cleveland, Ohio, USA.
authors.forename: Samar
authors.initials: S
authors.lastname: Farha
keywords: Cowden syndrome; PTEN mutation; pulmonary hypertension