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一位患有 Werner 综合征的患者通过微创心脏手术接受了主动脉瓣置换。

A Patient with Werner's Syndrome Who Underwent Aortic Valve Replacement through Minimally Invasive Cardiac Surgery.

机构信息

Department of Cardiovascular Surgery, Saitama Red Cross Hospital, Saitama, Saitama, Japan.

出版信息

Ann Thorac Cardiovasc Surg. 2023 Aug 20;29(4):210-213. doi: 10.5761/atcs.cr.21-00214. Epub 2022 Mar 10.

Abstract

Werner's syndrome (WS) is a genetic disorder presenting with premature senility. In the present study, we performed minimally invasive cardiac surgery (MICS)-aortic valve replacement (AVR) on a patient with Werner's syndrome who presented with aortic stenosis. The patient, a 49-year-old Japanese man, was brought to the emergency room with dyspnea during exercise. On echocardiography, severe aortic stenosis was found and surgery was planned. He had poorly controlled diabetes mellitus and underwent MICS-AVR to avoid the risk of sternal osteomyelitis, which resulted in a good outcome. The aortic valve had sclerotic changes and a genetic disease was suspected based on the onset of aortic stenosis at a young age, characteristic appearance, and various signs of aging. Genetic testing led to the diagnosis of WS.

摘要

Werner 综合征(WS)是一种表现为早衰的遗传性疾病。在本研究中,我们对一名患有主动脉瓣狭窄的 Werner 综合征患者进行了微创心脏手术(MICS)-主动脉瓣置换术(AVR)。该患者为 49 岁日本男性,在运动时出现呼吸困难并被送至急诊室。超声心动图显示严重的主动脉瓣狭窄,计划进行手术。他患有未得到良好控制的糖尿病,并接受了 MICS-AVR 以避免胸骨骨髓炎的风险,从而获得了良好的结果。主动脉瓣有硬化性改变,根据主动脉瓣狭窄在年轻时发病、特征性表现和各种衰老迹象,怀疑存在遗传性疾病。基因检测诊断为 WS。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2422/10466116/400a5f764903/atcs-29-210-g001.jpg

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