Chest. 2011 Oct;140(4):1066-8.

Pulmonary arterial hypertension in a patient with cowden syndrome and anorexigen exposure.

Natali D, Girerd B, Montani D, Soubrier F, Simonneau G, Humbert M, Sitbon O

Faculté de Médecine, Université Paris-Sud, Kremlin-Bicêtre, France.

Abstract

We report a case of pulmonary arterial hypertension (PAH) occurring in a patient with Cowden syndrome with a mutation in the phosphatase and tensin (PTEN) tumor suppressor gene, in the context of exposure to the appetite suppressant dexfenfluramine. Anorexigen exposure is known to be a risk factor for PAH. However, the role of PTEN in cell function and the development of pulmonary vascular remodeling and histopathologic signs of PAH in mice with a Pten depletion in smooth muscle cells suggest that the association of PAH and Cowden syndrome may be relevant. In this case report, we hypothesize that PTEN mutations may be a predisposing factor for the development of PAH, with anorexigen exposure as a potential trigger.

PMID: 21972386