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一名患有科斯特洛综合征并伴有致命性肥厚性梗阻性心肌病的婴儿。

An infant with Costello syndrome complicated with fatal hypertrophic obstructive cardiomyopathy.

作者信息

Tomita H, Fuse S, Ikeda K, Matsuda K, Chiba S

机构信息

Department of Pediatrics, Sapporo Medical University School of Medicine, Japan.

出版信息

Acta Paediatr Jpn. 1998 Dec;40(6):608-11. doi: 10.1111/j.1442-200x.1998.tb02000.x.

DOI:10.1111/j.1442-200x.1998.tb02000.x
PMID:9893300
Abstract

We report a 3-month-old girl with Costello syndrome complicating fatal hypertrophic obstructive cardiomyopathy. She had typical findings of this syndrome, slight dyspnea and persistent wheezing. Doppler echocardiography revealed asymmetric septal hypertrophy and systolic anterior movement of the anterior mitral leaflet. There was grade 1 mitral regurgitation. Although once her heart failure had been controlled medically, she died suddenly following deterioration of her heart condition. Costello syndrome can complicate fatal hypertrophic obstructive cardiomyopathy.

摘要

我们报告了一名3个月大患有科斯特洛综合征并并发致命性肥厚性梗阻性心肌病的女孩。她有该综合征的典型表现,轻微呼吸困难和持续性喘息。多普勒超声心动图显示不对称性室间隔肥厚以及二尖瓣前叶收缩期向前运动。存在1级二尖瓣反流。尽管她的心力衰竭曾通过药物得到控制,但在心脏状况恶化后突然死亡。科斯特洛综合征可并发致命性肥厚性梗阻性心肌病。

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J Saudi Heart Assoc. 2014 Apr;26(2):105-9. doi: 10.1016/j.jsha.2013.11.002. Epub 2013 Nov 13.
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Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.科斯特洛综合征的产前特征:超声检查结果与房性心动过速。
Prenat Diagn. 2009 Jul;29(7):682-90. doi: 10.1002/pd.2276.
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Eur J Pediatr. 2008 Jun;167(6):621-8. doi: 10.1007/s00431-007-0558-0. Epub 2007 Aug 29.
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