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努南综合征中的限制性和肥厚性心肌病:重叠综合征

Restrictive and hypertrophic cardiomyopathies in Noonan syndrome: the overlap syndromes.

作者信息

Wilmshurst P T, Katritsis D

机构信息

Department of Cardiology, Onassis Cardiac Surgery Centre, Athens, Greece.

出版信息

Heart. 1996 Jan;75(1):94-7. doi: 10.1136/hrt.75.1.94.

Abstract

A woman with Noonan syndrome had clinical and haemodynamic features of restrictive cardiomyopathy. There was no ventricular hypertrophy on echocardiography but myocardial biopsies showed myocyte hypertrophy without pathological disarray. This case illustrates the overlap of the cardiac phenotypes of Noonan syndrome, restrictive cardiomyopathy, and hypertrophic cardiomyopathy.

摘要

一名患有努南综合征的女性具有限制性心肌病的临床和血流动力学特征。超声心动图显示无心室肥厚,但心肌活检显示心肌细胞肥大,无病理紊乱。该病例说明了努南综合征、限制性心肌病和肥厚型心肌病心脏表型的重叠。

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本文引用的文献

1
Regulation of myosin heavy chain genes in the heart.心脏中肌球蛋白重链基因的调控
Circulation. 1993 May;87(5):1451-60. doi: 10.1161/01.cir.87.5.1451.
2
Brief report: reverse mutation in myotonic dystrophy.简短报告:强直性肌营养不良中的反向突变
N Engl J Med. 1993 Feb 18;328(7):476-80. doi: 10.1056/NEJM199302183280705.
10
Molecular mechanism of cardiac hypertrophy and failure.心脏肥大与衰竭的分子机制
Clin Sci (Lond). 1994 Aug;87(2):115-6. doi: 10.1042/cs0870115.

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