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威廉姆斯综合征与右心室心肌致密化不全：一种罕见的关联。

Williams Syndrome and Right Ventricular Noncompaction: A Rare Association.

作者信息

Panduranga Prashanth, Rajarao Mamatha Punjee

机构信息

Department of Cardiology, Royal Hospital, Muscat, Oman.

Department of Emergency Medicine, Royal Oman Police Hospital, Muscat, Oman.

出版信息

J Cardiovasc Echogr. 2018 Jan-Mar;28(1):69-71. doi: 10.4103/jcecho.jcecho_55_17.

DOI:10.4103/jcecho.jcecho_55_17
PMID:29629267
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5875143/
Abstract

Ventricular noncompaction and Williams syndrome are genetic disorders with typical clinical and echocardiographic cardiovascular manifestations. Here, we describe a young patient with rare association of clinical phenotype suggestive of Williams syndrome and right ventricular noncompaction.

摘要

心室致密化不全和威廉姆斯综合征是具有典型临床和超声心动图心血管表现的遗传性疾病。在此，我们描述了一名年轻患者，其临床表型罕见地提示威廉姆斯综合征与右心室致密化不全相关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/54fe/5875143/9705bf84108b/JCE-28-69-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/54fe/5875143/4986094bb41a/JCE-28-69-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/54fe/5875143/d78767169a39/JCE-28-69-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/54fe/5875143/9705bf84108b/JCE-28-69-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/54fe/5875143/4986094bb41a/JCE-28-69-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/54fe/5875143/d78767169a39/JCE-28-69-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/54fe/5875143/9705bf84108b/JCE-28-69-g003.jpg

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本文引用的文献

1
A pattern recognition approach to patients with a suspected myopathy.疑似肌病患者的模式识别方法。
Neurol Clin. 2014 Aug;32(3):569-93, vii. doi: 10.1016/j.ncl.2014.04.008.
2
New Genetic Insights into Congenital Heart Disease.先天性心脏病的新遗传学见解
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Long-term outcomes of patients with cardiovascular abnormalities and williams syndrome.心血管异常与威廉姆斯综合征患者的长期预后。
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[Clinical characterization and outcome of patients with noncompaction of ventricular myocardium].[心室心肌致密化不全患者的临床特征与预后]
Zhonghua Xin Xue Guan Bing Za Zhi. 2007 Jun;35(6):548-51.
5
Non-compacted cardiomyopathy: clinical-echocardiographic study.非致密型心肌病：临床超声心动图研究
Cardiovasc Ultrasound. 2006 Sep 26;4:35. doi: 10.1186/1476-7120-4-35.
6
Left ventricular hypertrabeculation/noncompaction and association with additional cardiac abnormalities and neuromuscular disorders.左心室致密化不全及其与其他心脏异常和神经肌肉疾病的关联。
Am J Cardiol. 2002 Oct 15;90(8):899-902. doi: 10.1016/s0002-9149(02)02723-6.
7
Cardiovascular manifestations in 75 patients with Williams syndrome.75例威廉姆斯综合征患者的心血管表现
J Med Genet. 2002 Aug;39(8):554-8. doi: 10.1136/jmg.39.8.554.