Cardiac abnormalities in neurofibromatosis

Cardiac abnormalities are potentially important features of neurofibromatosis (NF), but they are rarely discussed in this regard. Several literature reviews have suggested that congenital heart defects (CHD) occur with increased frequency in NF, and several isolated case reports have described hypertrophic cardiomyopathy (HCM) with NF. However, it is not clear whether the occurrence of CHD and HCM in patients with NF is coincidental or representative of an intrinsic, albeit uncommon, manifestation of the disorder. Adequate prospective studies documenting their true prevalence in NF are lacking. As an alternative, we reviewed the available relevant literature and, on that basis, have concluded that there is no clear evidence that CHD occurs with increased frequency among patients with NF, and that no statements can be made about the prevalence of HCM among patients with NF.