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一名患有16p12.2微缺失的法洛四联症合并肺动脉瓣缺如及主动脉后无名静脉异常的罕见病例。

An unusual case of tetralogy of Fallot with an absent pulmonary valve associated with a retro-aortic innominate vein in a patient with a 16p12.2 microdeletion.

作者信息

Linnane Niall, Green Andrew, McMahon Colin J

机构信息

Department of Cardiology and Cardiothoracic Surgery, Children's Health Ireland at Crumlin, Dublin, Ireland.

Department of Clinical Genetics, Children's Health Ireland at Crumlin, Dublin, Ireland.

出版信息

Cardiol Young. 2021 May;31(5):836-837. doi: 10.1017/S1047951120004667. Epub 2021 Jan 18.

DOI:10.1017/S1047951120004667
PMID:33455596
Abstract

16p12.2 microdeletion has been associated with congenital heart defects and developmental delay. In this case, we describe the rare association between tetralogy of Fallot with an absent pulmonary valve a right-sided aortic arch and a retro-aortic innominate vein associated with a 16p12.2 microdeletion and epilepsy.

摘要

16p12.2微缺失与先天性心脏缺陷和发育迟缓有关。在本病例中，我们描述了法洛四联症合并肺动脉瓣缺如、右侧主动脉弓和主动脉后无名静脉与16p12.2微缺失及癫痫之间罕见的关联。

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