title: Type 1 neurofibromatosis complicated by pulmonary artery hypertension: a case report.
abstract: 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.
authors: Section of Internal Medicine, Department of Clinical and Experimental Medicine, University of Verona, Verona, Italy.
authors: Sara
authors: S
authors: Simeoni
authors: Antonio
authors: A
authors: Puccetti
authors: Marco
authors: M
authors: Chilosi
authors: Elisa
authors: E
authors: Tinazzi
authors: Daniele
authors: D
authors: Prati
authors: Roberto
authors: R
authors: Corrocher
authors: Claudio
authors: C
authors: Lunardi
mesh_terms: D052006:Bone Morphogenetic Protein Receptors, Type II / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D006976:Hypertension, Pulmonary / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D008875:Middle Aged; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000235:genetics / Q000473:pathology
chemical_list: C498218:BMPR2 protein, human; D052006:Bone Morphogenetic Protein Receptors, Type II