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[与努南综合征相关的肥厚型心肌病及与特纳综合征相关的膜性主动脉瓣下狭窄。2例临床病例报告]

[Hypertrophic cardiomyopathy associated with Noonan's syndrome and membranous aortic subvalvular stenosis associated with Turner's syndrome. Report of 2 clinical cases].

作者信息

Perrotta Scaravilli E, Pontillo D, Pennacchia F, Boccanelli A, Greco C, Lo Schiavo P

机构信息

Divisione di Cardiologia A, Ospedale San Camillo, Roma.

出版信息

G Ital Cardiol. 1987 Sep;17(9):800-6.

PMID:3692082
Abstract

Cardiovascular anomalies are found in 50% of the cases of Turner's and Noonan's syndromes-diseases with the same phenotype but with a different genotype. In the former, the most common congenital heart diseases are aortic coarctation (30%) and bicuspid aortic valve (34%), while in the latter they are pulmonary valvular stenosis (60%), interatrial septal defect (25%) and obstructive or non obstructive hypertrophic cardiomyopathy (17%). We have described two cases, respectively of Noonan's and Turner's syndrome. The prominent features of the first case are the transmission of the syndrome on the male line, since father and son--the latter being our patient--are affected with the same syndrome, and the occurrence of a non obstructive hypertrophic cardiomyopathy involving both the ventricles, a situation not yet described in Noonan's syndrome. A subvalvular membranous aortic stenosis has instead been found in our patient with Turner's syndrome: this cardiac anomaly has never been described within the aforementioned syndrome in medical literature.

摘要

心血管异常在50%的特纳综合征和努南综合征病例中被发现,这两种疾病具有相同的表型,但基因型不同。在前者中,最常见的先天性心脏病是主动脉缩窄(30%)和二叶主动脉瓣(34%),而在后者中,它们是肺动脉瓣狭窄(60%)、房间隔缺损(25%)和梗阻性或非梗阻性肥厚型心肌病(17%)。我们描述了两例病例,分别为努南综合征和特纳综合征。第一例病例的突出特征是该综合征在男性谱系中的传递,因为父亲和儿子(后者是我们的患者)都患有相同的综合征,并且出现了累及两个心室的非梗阻性肥厚型心肌病,这种情况在努南综合征中尚未有描述。相反,在我们患有特纳综合征的患者中发现了瓣下膜性主动脉狭窄:医学文献中从未在上述综合征中描述过这种心脏异常。

相似文献

4
[Turner's phenotype and diagnosis of Noonan's syndrome].
Pediatr Med Chir. 1982 Sep-Oct;4(5):535-8.
5
[Subvalvular aortic stenosis in Noonan's syndrome].
Presse Med. 1989 Oct 7;18(31):1525.
7
[3 recent cases of Noonan's syndrome].
Sem Hop. 1978 Mar;54(5-8):335-43.

引用本文的文献

1
Myocardial disarray in Noonan syndrome.努南综合征中的心肌排列紊乱。
Br Heart J. 1992 Dec;68(6):586-8. doi: 10.1136/hrt.68.12.586.

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