Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force

Genet Med. May-Jun 2002;4(3):105-11. doi: 10.1097/00125817-200205000-00002.


Purpose: Patients with neurofibromatosis 1 (NF1) are at increased risk for a variety of cardiovascular disorders, but the natural history and pathogenesis of these abnormalities are poorly understood.

Methods: The National Neurofibromatosis Foundation convened an expert task force to review current knowledge about cardiovascular manifestations of NF1 and to make recommendations regarding clinical management and research priorities related to these features of the disease.

Results: This report summarizes the NF1 Cardiovascular Task Force's current understanding of vasculopathy, hypertension, and congenital heart defects that occur in association with NF1. Recommendations are made regarding routine surveillance for cardiovascular disease and diagnostic evaluation and management of cardiovascular disorders in individuals with NF1.

Conclusion: Our understanding of the natural history and pathogenesis of cardiovascular disease in NF1 has improved substantially in the past few years, but many clinically important questions remain unanswered.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Advisory Committees
  • Cardiovascular Diseases / epidemiology
  • Cardiovascular Diseases / etiology*
  • Cardiovascular Diseases / genetics
  • Heart Defects, Congenital / complications
  • Heart Defects, Congenital / epidemiology
  • Heart Defects, Congenital / physiopathology
  • Humans
  • Hypertension / epidemiology
  • Hypertension / etiology
  • Neurofibromatosis 1 / complications*