Pulmonary hypertension and interstitial fibrosis in von Recklinghausen neurofibromatosis

Am J Med Genet. 1986 Nov;25(3):531-5. doi: 10.1002/ajmg.1320250315.

Abstract

Neurofibromatosis von Recklinghausen (NFvR) has been reported to be associated with diffuse interstitial pulmonary fibrosis. We describe a patient with NFvR presenting in middle age with dyspnea and cyanosis. Chest radiographs showed right ventricular enlargement, dilated proximal pulmonary arteries, and bilaterally increased interstitial markings. Cardiac catheterization showed moderately severe pulmonary hypertension and no evidence of congenital heart defect. The interstitial fibrosis associated with NFvR can result in symptomatic pulmonary hypertension.

Publication types

  • Case Reports

MeSH terms

  • Electrocardiography
  • Female
  • Humans
  • Hypertension, Pulmonary / complications*
  • Hypertension, Pulmonary / diagnostic imaging
  • Middle Aged
  • Neurofibromatosis 1 / complications*
  • Neurofibromatosis 1 / diagnostic imaging
  • Pulmonary Fibrosis / complications*
  • Pulmonary Fibrosis / diagnostic imaging
  • Radiography