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 language | English (US) |
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Pages (from-to) | 95-99 |
Number of pages | 5 |
Journal | American journal of medical genetics |
Volume | 100 |
Issue number | 2 |
DOIs | |
State | Published - Apr 22 2001 |
Keywords
- Neurofibromin
- NF1
- Vasculopathy
ASJC Scopus subject areas
- Genetics(clinical)