Type 1 neurofibromatosis complicated by pulmonary arterial hypertension: a case report

Abstract

Neurofibromatosis type I (NF1) is a rare genetic disease caused by mutations in the NF1 gene, which encodes the tumor suppressor neurofibromin. Precapillary pulmonary hypertension is a severe complication of NF1, initially described in patients with advanced parenchymal lung disease, which may complicate the course of NF1. Presently described is a case of neurofibromatosis complicated by pulmonary hypertension.

Keywords

• neurofibromatosis
• pulmonary arterial hypertension
• vasoreactivity test.