ID 111541
Author
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
Keywords
neurofibromatosis type 1
pulmonary artery hypertension
bone morphogenetic protein receptor 2
Content Type
Journal Article
Description
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.
Journal Title
The Journal of Medical Investigation
ISSN
13496867
13431420
NCID
AA11166929
AA12022913
Publisher
Faculty of Medicine Tokushima University
Volume
54
Issue
3-4
Start Page
354
End Page
358
Sort Key
354
Published Date
2007-08
DOI (Published Version)
URL ( Publisher's Version )
FullText File
language
eng
TextVersion
Publisher