Simeoni, Sara University of Verona
Puccetti, Antonio University of Genova
Chilosi, Marco University of Verona
Tinazzi, Elisa University of Verona
Prati, Daniele University Hospital, Verona
Corrocher, Roberto University of Verona
Lunardi, Claudio University of Verona
neurofibromatosis type 1
pulmonary artery hypertension
bone morphogenetic protein receptor 2
We describe the case of a patient with neurofibromatosis type 1 (NF1) complicated by severe pulmonary aterial hypertension (PAH) ; only seven cases have been reported on this association so far, and PAH seems to be related to the vascular involvement of neurofibromatosis. The histology of our patient’s lung tissue showed thickening of arteries and veins by medial and/or intimal hypertrophy and fibrosis. In order to exclude a familiar PAH, the analysis of the bone morphogenetic protein receptor 2 gene was carried out, but no mutations were found.
On the basis of histological findings and of the results of genetic study we believe that PAH was a complication of NF1 in our patient and we suggest to screen patients with NF1 for the presence of PAH by means of trans-thoracic echocardiogram.
The Journal of Medical Investigation
Faculty of Medicine Tokushima University
jmi_54_3-4_354.pdf 790 KB