Cardiac findings in an individual with neurofibromatosis 1 and sudden death.
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.
Hamilton
S J
SJ
Department of Medical Genetics, University of British Columbia and Children's and Women's Health Centre of British Columbia, Vancouver, British Columbia, Canada.
Allard
M F
MF
Friedman
J M
JM
D000328:Adult; D009202:Cardiomyopathies / Q000209:etiology* / Q000473:pathology; D003645:Death, Sudden / Q000209:etiology*; D006801:Humans; D008297:Male; D008944:Mitral Valve Insufficiency / Q000209:etiology* / Q000473:pathology; D009456:Neurofibromatosis 1 / Q000150:complications*