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CT 血管造影评估遗传性血管疾病:在复杂血管病理情况下的检测、分期和治疗中的作用。

CT angiographic evaluation of genetic vascular disease: role in detection, staging, and management of complex vascular pathologic conditions.

机构信息

1 The Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins Hospital, 601 N Caroline St, Baltimore, MD 21287.

出版信息

AJR Am J Roentgenol. 2014 May;202(5):1120-9. doi: 10.2214/AJR.13.11485.

DOI:10.2214/AJR.13.11485
PMID:24758669
Abstract

OBJECTIVE

Arterial dissection and aneurysm rupture are significant sources of morbidity and mortality in patients with connective tissue diseases. This article provides a detailed analysis of cardiovascular involvement in Marfan syndrome, Loeys-Dietz syndrome, and vascular Ehlers-Danlos syndrome.

CONCLUSION

Although these syndromes share some overlapping features, they have discriminating clinical and imaging features, and knowledge of these features enables the radiologist to aid the referring clinician in making the correct diagnosis.

摘要

目的

在结缔组织疾病患者中,动脉夹层和动脉瘤破裂是发病率和死亡率的重要来源。本文详细分析了马凡综合征、Loeys-Dietz 综合征和血管型 Ehlers-Danlos 综合征的心血管受累情况。

结论

尽管这些综合征具有一些重叠特征,但它们具有明显不同的临床和影像学特征,了解这些特征可使放射科医生帮助临床医生做出正确诊断。

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引用本文的文献

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Front Med (Lausanne). 2025 Aug 8;12:1648439. doi: 10.3389/fmed.2025.1648439. eCollection 2025.
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Adjustment to disease and quality of life in people with vascular Ehlers-Danlos and Loeys-Dietz syndromes: A mixed-method study.血管性埃勒斯-当洛综合征和洛伊斯-迪茨综合征患者对疾病的适应情况及生活质量:一项混合方法研究。
Front Psychol. 2023 Feb 28;14:1019863. doi: 10.3389/fpsyg.2023.1019863. eCollection 2023.
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Artificial intelligence-based analysis of body composition in Marfan: skeletal muscle density and psoas muscle index predict aortic enlargement.
基于人工智能的马凡综合征体成分分析:骨骼肌密度和腰大肌指数预测主动脉扩张。
J Cachexia Sarcopenia Muscle. 2021 Aug;12(4):993-999. doi: 10.1002/jcsm.12731. Epub 2021 Jun 17.
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Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches.遗传性胸主动脉瘤和夹层的临床应用基因卡,包括基于下一代测序的方法。
Eur J Hum Genet. 2016 Jan;24(1):e1-5. doi: 10.1038/ejhg.2015.225. Epub 2015 Oct 28.
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