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首页> 外文期刊>Case Reports in Genetics >Patient with Marfan Syndrome and a Novel Variant in FBN1 Presenting with Bilateral Popliteal Artery Aneurysm
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Patient with Marfan Syndrome and a Novel Variant in FBN1 Presenting with Bilateral Popliteal Artery Aneurysm

机译：马凡氏综合症患者和FBN1的新型变异表现为双侧lite动脉动脉瘤。

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We present a 43-year-old man with aortic root dilation, mitral valve prolapse, and marfanoid appearance, who presented with acute onset left leg pain. He underwent a Doppler ultrasound that revealed left popliteal artery aneurysm with thrombus. CT angiogram showed bilateral popliteal artery aneurysms. After repairing of his left popliteal artery aneurysm, he was sent for genetic evaluation. He was diagnosed with Marfan syndrome (MFS) based on the revised Ghent criteria and then underwent FBN1 sequencing and deletion/duplication analysis, which detected a novel pathogenic variant in gene FBN1, denoted by c.5872 T>A (p.Cys1958Ser). MFS is a connective tissue disorder with an autosomal dominant inheritance due to pathogenic variants in FBN1 that encodes Fibrillin-1, a major element of the extracellular matrix, and connective tissue throughout the body. MFS involves multiple systems, most commonly the cardiovascular, musculoskeletal, and visual systems. In our case we present a rare finding of bilateral popliteal artery aneurysms in a male patient with MFS.
机译：我们介绍了一个43岁的男子，主动脉根部扩张，二尖瓣脱垂和马芬形外观，他们的症状是急性左腿疼痛。他接受了多普勒超声检查，发现左pop动脉瘤伴血栓。 CT血管造影显示双侧pop动脉瘤。修复左pop总动脉瘤后，他被送去接受基因评估。根据修订的根特标准，他被诊断出患有马凡氏综合症（MFS），然后进行了FBN1测序和缺失/重复分析，该分析检测了FBN1基因中的一种新型致病变异，表示为c.5872 T> A（p.Cys1958Ser）。 MFS是一种结缔组织疾病，由于FBN1中的致病性变体（常编码细胞外基质的主要成分Fibrillin-1）和整个结缔组织，因此具有常染色体显性遗传。 MFS涉及多个系统，最常见的是心血管，肌肉骨骼和视觉系统。在我们的病例中，我们在男性MFS患者中发现了罕见的双侧pop动脉动脉瘤发现。

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