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特发性肥厚性主动脉瓣下狭窄合并皮肤神经纤维瘤病:病例报告

Idiopathic hypertrophic subaortic stenosis associated with cutaneous neurofibromatosis: report of a case.

作者信息

Elliott C M, Tajik A J, Giuliani E R, Gordon H

出版信息

Am Heart J. 1976 Sep;92(3):368-72. doi: 10.1016/s0002-8703(76)80118-4.

DOI:10.1016/s0002-8703(76)80118-4
PMID:821327
Abstract

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.

摘要

尽管特发性肥厚性主动脉瓣下狭窄已得到广泛研究,但其病因仍不清楚。最近关于它与神经外胚层综合征相关的报道表明,至少某些病例可能是神经外胚层遗传性缺陷的表现。与这一假说相符,我们报告一例与神经纤维瘤病相关的特发性肥厚性主动脉瓣下狭窄病例。

相似文献

1
Idiopathic hypertrophic subaortic stenosis associated with cutaneous neurofibromatosis: report of a case.特发性肥厚性主动脉瓣下狭窄合并皮肤神经纤维瘤病:病例报告
Am Heart J. 1976 Sep;92(3):368-72. doi: 10.1016/s0002-8703(76)80118-4.
2
Gastric and intestinal bleeding in multiple neurofibromatosis with cardiomyopathy.伴有心肌病的多发性神经纤维瘤病患者的胃肠道出血
Aust N Z J Surg. 1986 Feb;56(2):171-3. doi: 10.1111/j.1445-2197.1986.tb01878.x.
3
1965 report of idiopathic hypertrophic subaortic stenosis with ostium secundum atrial septal defect.
Chest. 1976 Mar;69(3):445. doi: 10.1378/chest.69.3.445c.
4
An association between hypercalcemia and idiopathic hypertrophic subaortic stenosis.高钙血症与特发性肥厚性主动脉瓣下狭窄之间的关联。
Ann Intern Med. 1978 Apr;88(4):576.
5
Hypercalcemia and idiopathic hypertrophic subaortic stenosis.高钙血症与特发性肥厚性主动脉瓣下狭窄
Ann Intern Med. 1978 Jan;88(1):57-8. doi: 10.7326/0003-4819-88-1-57.
6
Idiopathic hypertrophic subaortic stenosis. Coexistence with calcific aortic valvular stenosis and calcified mitral annulus in an elderly patient.
Chest. 1977 Apr;71(4):560-1. doi: 10.1378/chest.71.4.560.
7
Mitral ring calcification in idiopathic hypertrophic subaortic stenosis.
Am J Cardiol. 1978 Jul;42(1):60-6. doi: 10.1016/0002-9149(78)90986-4.
8
Hypertrophic subaortic stenosis and hypercalcemia.肥厚性主动脉瓣下狭窄与高钙血症。
Ann Intern Med. 1978 Apr;88(4):576. doi: 10.7326/0003-4819-88-4-576_1.
9
[Obstructive cardiomyopathy with idiopathic hypertrophic subaortic stenosis in the pediatric age].小儿梗阻性心肌病伴特发性肥厚性主动脉瓣下狭窄
Minerva Med. 1979 Nov 3;70(48):3299-307.
10
[A case of concomitant association of discrete subaortic stenosis in Kelly type I and hypertrophic cardiomyopathy in early stage].[1例凯利I型离散性主动脉瓣下狭窄与早期肥厚型心肌病并存的病例]
Rinsho Kyobu Geka. 1989 Feb;9(1):93-5.

引用本文的文献

1
Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?神经纤维瘤病 1 型(NF1)的基因型-表型关联:NF1 剪接位点突变患者的肿瘤并发症风险增加?
Hum Genomics. 2012 Aug 13;6(1):12. doi: 10.1186/1479-7364-6-12.
2
The frontiers of cardiomyopathy.心肌病的前沿领域。
Br Heart J. 1982 Jul;48(1):1-18. doi: 10.1136/hrt.48.1.1.
3
Familial neurofibromatosis and hypertrophic cardiomyopathy.家族性神经纤维瘤病与肥厚型心肌病。
Br Heart J. 1988 Sep;60(3):247-51. doi: 10.1136/hrt.60.3.247.
4
Apical systolic click and murmur associated with neurofibromatosis.与神经纤维瘤病相关的心尖收缩期喀喇音和杂音。
J Med Genet. 1978 Oct;15(5):401-3. doi: 10.1136/jmg.15.5.401.