Idiopathic hypertrophic subaortic stenosis associated with cutaneous neurofibromatosis: report of a case.
Although idiopathic hypertrophic subaortic stenosis has been studied extensively, its etiology has remained elusive. Recent reports of its association with neuroectodermal syndrome suggest that at least some cases may be the manifestation of a heritable defect of neuroectoderm. Consistent with this hypothesis, we report a case of idiopathic hypertrophic subaortic stenosis associated with neurofibromatosis.
D001020:Aortic Stenosis, Subvalvular / Q000150:complications* / Q000209:etiology / Q000235:genetics; D002312:Cardiomyopathy, Hypertrophic / Q000150:complications*; D005260:Female; D006801:Humans; D008875:Middle Aged; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000235:genetics