血管性 Ehlers-Danlos 综合征中与心肺复苏相关的灾难性损伤:病例报告与回顾。

IF 1 4区 医学 Q3 MEDICINE, LEGAL American Journal of Forensic Medicine and Pathology Pub Date : 2024-12-01 Epub Date: 2024-07-16 DOI:10.1097/PAF.0000000000000965
Jesse L Fitzgerald, Breanne N Vergonet, Wendy S Warren, Andrew J Rohrer
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引用次数: 0

摘要

摘要:本文介绍了一例严重心肺复苏相关损伤导致血管性埃勒斯-丹洛斯综合征诊断的病例。患者是一名 36 岁的女性,既往病史是在死亡前 3 年的造影检查中发现右侧颈内动脉有一个 10 毫米的动脉瘤。主要尸检结果包括脑底蛛网膜下腔出血、双侧血胸、血心包、房间隔裂伤、左肺动脉裂伤以及肺部慢性肺泡出血继发病变。尸检结果和随后进行的无异常毒理学研究让人怀疑存在潜在的、临床上未确诊的结缔组织疾病。广泛的基因外显子组检测发现了与血管性埃勒斯-丹洛斯综合征一致的突变。本文进一步介绍了这种疾病的概况、诊断和鉴别方法,以及对法医病理学家的建议。
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Catastrophic CPR-Related Injuries in Vascular Ehlers-Danlos Syndrome: A Case Report and Review.

Abstract: This article presents a case of severe CPR-related injuries leading to diagnosis of vascular Ehlers-Danlos syndrome. The subject is a 36-year-old female with a past medical history of a 10-mm aneurysm of the right internal carotid artery discovered on imaging 3 years prior to death. Major autopsy findings included subarachnoid hemorrhage in the base of the brain, bilateral hemothoraces, hemopericardium, laceration of the interatrial septum, laceration of the left pulmonary artery, and changes secondary to chronic alveolar hemorrhage in the lungs. The autopsy findings and subsequent unremarkable toxicology studies led to the suspicion of an underlying and clinically undiagnosed connective tissue disorder. Broad genetic exome testing revealed a mutation consistent with vascular Ehlers-Danlos syndrome. An overview of this disease, its diagnosis, and differential are further described herein, along with recommendations for forensic pathologists.

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来源期刊
CiteScore
1.80
自引率
0.00%
发文量
103
审稿时长
4-8 weeks
期刊介绍: Drawing on the expertise of leading forensic pathologists, lawyers, and criminologists, The American Journal of Forensic Medicine and Pathology presents up-to-date coverage of forensic medical practices worldwide. Each issue of the journal features original articles on new examination and documentation procedures. While most articles are available as web based articles, PDF and in ePub reader format, some earlier articles do not have PDFs available. If you would like to view an article in the ePub format, you will need to download an ePub reader to view this file, a number of which are available for free online.
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