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一名患有多发性腹主动脉瘤和腘动脉瘤患者的基因型/表型相关性

Genotype/phenotype correlation in a patient with multiple abdominal and popliteal aneurysms.

作者信息

Correa Mateus Picada, Giordani Camila Biedler, Puton Renan Camargo, Saleh Jaber Nashat, Silveira Lucas Elizabeth Lemos

机构信息

Division of Vascular Surgery and Interventional Radiology, Instituto Vascular de Passo Fundo (Invasc), Passo Fundo, Brazil.

School of Medicine, Universidade de Passo Fundo (UPF), Passo Fundo, Brazil.

出版信息

J Vasc Surg Cases Innov Tech. 2025 May 23;11(4):101855. doi: 10.1016/j.jvscit.2025.101855. eCollection 2025 Aug.

Abstract

An aneurysm is a localized arterial dilation that can occur in various body segments; multisegmented aneurysms are rare. This case report discusses a 55-year-old male with incidental multisegmented abdominal and popliteal aneurysms. He underwent popliteal aneurysmectomy and endovascular treatment for abdominal aneurysms. Genetic testing revealed a pathogenic variant linked to systemic aneurysms, epilepsy, and cancer. Additionally, two benign variants in the and genes, associated with thoracic aortic disease, were found. These findings emphasis the importance of genetic counseling and further research into genotype-phenotype correlations.

摘要

动脉瘤是一种局限性动脉扩张,可发生于身体的各个部位;多节段动脉瘤较为罕见。本病例报告讨论了一名55岁男性,偶然发现患有多节段腹主动脉瘤和腘动脉瘤。他接受了腘动脉瘤切除术及腹主动脉瘤的血管内治疗。基因检测发现了一个与全身性动脉瘤、癫痫和癌症相关的致病变异。此外,还发现了与胸主动脉疾病相关的两个基因中的良性变异。这些发现强调了遗传咨询以及进一步研究基因型与表型相关性的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e306/12226079/edcb85e1d1c1/gr1.jpg

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