Pulmonary arterial hypertension associated with a von Hippel-Lindau gene mutation

Pulmonary arterial hypertension (PAH) is a rare dyspnea-fatigue syndrome caused by increased pulmonary vascular resistance (PVR) and eventual right heart failure. Several conditions and some definite gene mutations can be associated with PAH. A small number of patients with a diagnosis of pulmonary hypertension (PH) in relation to genes mutations associated with congenital erythrocytosis, and in particular with von Hippel-Lindau (VHL) gene mutation, have been reported. However, these reports only mentioned an increased pulmonary artery pressure (PAP), without reporting complete clinical and hemodynamic data, so whether the patients really suffered from PAH is uncertain.