Type 1 neurofibromatosis complicated by pulmonary artery hypertension: A case report

Sara Simeoni, Antonio Puccetti, Marco Chilosi, Elisa Tinazzi, Daniele Prati, Roberto Corrocher, Claudio Lunardi

Research output: Contribution to journalArticle


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 intimai 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.

Original languageEnglish
Pages (from-to)354-358
Number of pages5
JournalJournal of Medical Investigation
Issue number3-4
Publication statusPublished - 2007


  • Bone morphogenetic protein receptor 2
  • Neurofibromatosis type 1
  • Pulmonary artery hypertension

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

Fingerprint Dive into the research topics of 'Type 1 neurofibromatosis complicated by pulmonary artery hypertension: A case report'. Together they form a unique fingerprint.

  • Cite this