Idiopathic Hypertrophic Subaortic Stenosis Associated with Cutaneous Neurofibromatosis: Report of a Case
Overview
Authors
Affiliations
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.
Alkindy A, Chuzhanova N, Kini U, Cooper D, Upadhyaya M Hum Genomics. 2012; 6:12.
PMID: 23244495 PMC: 3528442. DOI: 10.1186/1479-7364-6-12.
The frontiers of cardiomyopathy.
Goodwin J Br Heart J. 1982; 48(1):1-18.
PMID: 6123334 PMC: 481195. DOI: 10.1136/hrt.48.1.1.
Familial neurofibromatosis and hypertrophic cardiomyopathy.
Fitzpatrick A, Emanuel R Br Heart J. 1988; 60(3):247-51.
PMID: 3140859 PMC: 1216562. DOI: 10.1136/hrt.60.3.247.
Apical systolic click and murmur associated with neurofibromatosis.
Etches P, Pickering D J Med Genet. 1978; 15(5):401-3.
PMID: 105133 PMC: 1013742. DOI: 10.1136/jmg.15.5.401.