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.

Published in:

Pulmonary Circulation Vol 4: No 4 cover image

December 2014

Pulmonary Circulation Vol 4: No 4

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