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: Duc Ha, Jessica Mester, Charis Eng, Samar Farha
• Journal: Pulmonary circulation (Pulm Circ) Vol. 4 Issue 4 Pg. 728-31 (Dec 2014) ISSN: 2045-8932 [Print] United States
• PMID: 25610608 (Publication Type: Case Reports)