Cardiac findings in an individual with neurofibromatosis 1 and sudden death

Vascular lesions in neurofibromatosis 1 (NF1) are infrequently recognised a s manifestations of the disease, yet they can produce serious complications , Most individuals with NF1 vasculopathy are asymptomatic, which may contri bute to underestimation of its frequency. A recent study indicates that vas cular changes in individuals with NF1 contribute to mortality at younger ag es, We report the sudden death of a young man with NF1. On autopsy examinat ion 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, (C) 2001 Wiley-Liss, Inc.