Ellis-van Creveld 综合征合并心脏畸形的外科矫治——附 1 例罕见病例报告。

Surgical Correction of Cardiac Defects with Ellis Van Crevald Syndrome - A Rare Case Report.

机构信息

Department of Cardiac Surgery, National Heart Foundation Hospital & Research Institute, Dhaka, Bangladesh.

Department of Cardiac Surgery, Square Hospital Limited, Dhaka, Bangladesh.

出版信息

Heart Surg Forum. 2021 Jan 13;24(1):E009-E013. doi: 10.1532/hsf.3315.

DOI:10.1532/hsf.3315

PMID:33635265

Abstract

Ellis-Van Creveld (EVC) syndrome is an autosomal recessive disorder. Around 150 cases are described in published literature and in Bangladesh, it is even rare. The patient usually comes with short stature, dental deformity, and cardiac deformity. Here, we present the case of a patient with ostium primum atrial septal defect (ASD) with moderate mitral regurgitation who underwent surgical repair of ASD and mitral valve replacement.

摘要

埃利斯-范克里夫特（EVC）综合征是一种常染色体隐性遗传病。在已发表的文献和孟加拉国，约有 150 例病例被描述，甚至更为罕见。患者通常伴有身材矮小、牙齿畸形和心脏畸形。在这里，我们报告了一例原发孔型房间隔缺损（ASD）伴中度二尖瓣反流的患者，该患者接受了 ASD 修补术和二尖瓣置换术。