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伴有最罕见先天性心脏缺陷组合的科芬-西里斯综合征：一例病例报告并文献复习

Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature.

作者信息

Nemani Lalita, Barik Ramachandra, Patnaik Amar Narayana, Mishra Ramesh C, Rao Amaresh M, Kapur Pragati

机构信息

Department of Cardiology, Nizam's Institute of Medical Sciences, Hyderabad, Andhra Pradesh, India.

Department of Cardiothoracic Surgery, Nizam's Institute of Medical Sciences, Hyderabad, Andhra Pradesh, India.

出版信息

Ann Pediatr Cardiol. 2014 Sep;7(3):221-6. doi: 10.4103/0974-2069.140859.

DOI:10.4103/0974-2069.140859
PMID:25298701
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4189243/
Abstract

We report a case of type-A Coffin-Siris syndrome (CSS) with a unique constellation of congenital heart defects. A 17-year-old Indian boy was referred to our hospital for central cyanosis with features of right heart failure. The cardiac abnormalities included biventricular outflow tract obstruction, small atrial septal defect (ASD), subaortic ventricular septal defect, drainage of left superior venacava to left atrial appendage, and aortic arch anomaly. Patient underwent successful right ventricular infundibular resection, subaortic membrane resection, closure of atrial and ventricular septal defect, rerouting left superior vena cava to left pulmonary artery and aortic valve replacement.

摘要

我们报告一例伴有独特先天性心脏缺陷组合的A型科芬-西里斯综合征（CSS）。一名17岁的印度男孩因中心性发绀伴右心衰竭特征被转诊至我院。心脏异常包括双心室流出道梗阻、小型房间隔缺损（ASD）、主动脉瓣下室间隔缺损、左上腔静脉引流至左心耳以及主动脉弓异常。患者成功接受了右心室漏斗部切除术、主动脉瓣下膜切除术、房间隔和室间隔缺损修补术、将左上腔静脉改道至左肺动脉以及主动脉瓣置换术。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5914/4189243/4af2838b141d/APC-7-221-g010.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5914/4189243/6eb231f5b2ff/APC-7-221-g007.jpg
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2
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Am J Med Genet A. 2013 Jun;161A(6):1221-37. doi: 10.1002/ajmg.a.35933. Epub 2013 May 1.
3
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4
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