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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.

DOI:10.5761/atcs.cr.21-00214
PMID:35264497
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10466116/
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/ddcf479ea66e/atcs-29-210-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2422/10466116/400a5f764903/atcs-29-210-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2422/10466116/607f8208adfe/atcs-29-210-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2422/10466116/368a006e4b1b/atcs-29-210-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2422/10466116/ddcf479ea66e/atcs-29-210-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2422/10466116/400a5f764903/atcs-29-210-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2422/10466116/607f8208adfe/atcs-29-210-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2422/10466116/368a006e4b1b/atcs-29-210-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2422/10466116/ddcf479ea66e/atcs-29-210-g004.jpg

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本文引用的文献

1
Aortic valve replacement with annular patch enlargement for a patient with Werner's syndrome and severe aortic stenosis.为一名患有沃纳综合征和严重主动脉瓣狭窄的患者进行带瓣环补片扩大的主动脉瓣置换术。
J Cardiothorac Surg. 2020 Jul 17;15(1):174. doi: 10.1186/s13019-020-01219-7.
2
Transcatheter aortic valve replacement in a patient with Werner syndrome.一名患有沃纳综合征患者的经导管主动脉瓣置换术。
J Card Surg. 2017 Jul;32(7):414-415. doi: 10.1111/jocs.13164. Epub 2017 Jun 20.
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Werner syndrome: Clinical features, pathogenesis and potential therapeutic interventions.
沃纳综合征:临床特征、发病机制及潜在治疗干预措施。
Ageing Res Rev. 2017 Jan;33:105-114. doi: 10.1016/j.arr.2016.03.002. Epub 2016 Mar 15.
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Diagnostic criteria for Werner syndrome based on Japanese nationwide epidemiological survey.基于日本全国流行病学调查的 Werner 综合征诊断标准。
Geriatr Gerontol Int. 2013 Apr;13(2):475-81. doi: 10.1111/j.1447-0594.2012.00913.x. Epub 2012 Jul 23.
5
Aortic valve replacement for aortic stenosis with a small aortic annulus in a patient having Werner's syndrome and liver cirrhosis.在一名患有沃纳综合征和肝硬化且主动脉瓣环较小的患者中,因主动脉瓣狭窄而行主动脉瓣置换术。
Ann Thorac Cardiovasc Surg. 2001 Dec;7(6):378-80.
6
Severe heart valve calcification in a young patient with Werner syndrome.一名患有沃纳综合征的年轻患者出现严重心脏瓣膜钙化。
Cardiovasc Pathol. 2000 Jan-Feb;9(1):53-4. doi: 10.1016/s1054-8807(99)00036-8.
7
Aortic homograft and mitral valve repair in a patient with Werner's syndrome.一名患有沃纳综合征患者的主动脉同种异体移植和二尖瓣修复术。
Ann Thorac Surg. 1994 May;57(5):1319-20. doi: 10.1016/0003-4975(94)91383-8.