Repair of double orifice mitral valve with an atrioventricular septal defect in a girl with Ellis-Van Creveld syndrome.

患有 Ellis - Van Creveld 综合征的女孩的双孔二尖瓣和房室间隔缺损的修复。

• 发表时间: May 2022
• 来源期刊: Clin Case Rep
• DOI: 10.1002/ccr3.5888
• PMID: 35600041
• 文章类型: Case Reports
• 作者列表: Al-Dairy A,Srour S,Chaker A,Alzahraa Alsyed Hasan F

关键词: common atrium; double orifice mitral valve; ellis–van creveld syndrome; partial atrioventricular septal defect

Abstract

Ellis-van Creveld syndrome is a rare autosomal recessive disorder caused by mutations in the EVC and EVC2 genes. The four principal manifestations are chondrodysplasia, polydactyly, ectodermal dysplasia, and congenital heart defects. We describe the case of a 7-year-old girl with Ellis-van Creveld Syndrome with the diagnosis of common atrium and partial atrioventricular septal defect. She underwent a successful surgical repair, and intraoperatively, a double orifice mitral valve was diagnosed as well. The correct diagnosis of this disorder in early life is essential in the overall prognosis of the syndrome. Clinical follow-up at regular intervals is very important in these patients to institute proper managements and prevent further complications.

摘要

Ellis-vanCreveld综合征是一种罕见的常染色体隐性遗传疾病，由EVC和EVC2基因突变引起。四种主要表现是软骨发育不良,多指,外胚层发育不良,先天性心脏缺陷.我们描述了一名患有Ellis-vanCreveld综合征的7岁女孩的病例，诊断为心房和部分房室间隔缺损。她接受了一次成功的手术修复,术中，双孔二尖瓣也被诊断出来。在生命早期对这种疾病的正确诊断对于该综合征的整体预后至关重要。在这些患者中，定期进行临床随访非常重要，以进行适当的管理并防止进一步的并发症。