Cardiac findings in an individual with neurofibromatosis 1 and sudden death

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.

Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1splice-site mutations?

“…However, none of the 2,322 NF1 individuals retrospectively assessed for cardiovascular malformation in the National Neurofibromatosis Foundation International Database had HCM [24], suggesting that routine echocardiography should form part of the surveillance regimen in NF1. At least four other single reports of the cooccurrence of HCM and NF1 [25-28] have appeared in the literature. Cardiac hypertrophy is the most common risk factor contributing to cardiovascular mortality and morbidity in NF1 patients [29].…”

Nf1 haploinsufficiency augments angiogenesis

“…Although NF1 is characterized by hyperproliferation and neoplasia of neural crest derivatives, affected individuals often have disorders that seem less related to the neural crest, including hypertension, renal artery stenosis, increased incidence of congenital heart disease, and vascular disorders (Hamilton et al, 2001;Rasmussen et al, 2001;Friedman et al, 2002). As neurofibromin is expressed in blood vessel endothelial and smooth muscle cells, Hamilton and Friedman (2000) suggested that NF1 vasculopathy might result from an alteration of neurofibromin function in these cells.…”

Use of imatinib in a patient with cutaneous vasculopathy in the context of von Recklinghausen disease/neurofibromatosis

“…According to large clinical series, both cerebral and peripheral vasculopathy in adults have a prevalence ranging from 0·4% to 6·4% . The incidence of vascular pathology is probably underestimated, as most of the vascular features are asymptomatic . However, major cardiac and cerebral vessel involvement can have life‐threatening consequences …”