Cardiac findings in an individual with neurofibromatosis 1 and sudden death

O. A.F. Bodamer, E. J. Popek, C. Bacino

Research output: Contribution to journalArticle

20 Scopus citations

Abstract

Vascular lesions in neurofibromatosis 1 (NF1) are infrequently recognised as manifestations of the disease, yet they can produce serious complications. Most individuals with NF1 vasculopathy are asymptomatic, which may contribute to underestimation of its frequency. A recent study indicates that vascular changes in individuals with NF1 contribute to mortality at younger ages. We report the sudden death of a young man with NF1. On autopsy examination there was evidence of an intramyocardial vasculopathy characteristic of the vascular pathology previously described in NF1. Other cardiac findings included non-specific cardiomyopathic changes, myocardial fibrosis, and a "floppy" mitral valve.

Original languageEnglish (US)
Pages (from-to)95-99
Number of pages5
JournalAmerican journal of medical genetics
Volume100
Issue number2
DOIs
StatePublished - Apr 22 2001

Keywords

  • Neurofibromin
  • NF1
  • Vasculopathy

ASJC Scopus subject areas

  • Genetics(clinical)

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