Pulmonary arterial hypertension in a patient with Cowden syndrome and the PTEN mutation

Duc Ha; Jessica Mester; Charis Eng; Samar Farha

doi:10.1086/678552

Pulmonary arterial hypertension in a patient with Cowden syndrome and the PTEN mutation

Pulm Circ. 2014 Dec;4(4):728-31. doi: 10.1086/678552.

Authors

Duc Ha¹, Jessica Mester², Charis Eng³, Samar Farha⁴

Affiliations

¹ Medicine Institute, Cleveland Clinic, Cleveland, Ohio, USA.
² Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio, USA.
³ 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.
⁴ Respiratory Institute, Cleveland Clinic, Cleveland, Ohio, USA.

PMID: 25610608
PMCID: PMC4278632
DOI: 10.1086/678552

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.

Keywords: Cowden syndrome; PTEN mutation; pulmonary hypertension.

Publication types

Case Reports