Vascular Ehlers-Danlos syndrome (vEDS) is an autosomal dominant disease, also known as EDS type IV. The estimated prevalence for all EDS varies between 1/10,000 and 1/25,000 with EDS type IV representing approximately 5-10% of the cases. The vascular complications may affect all anatomical areas, with a tendency toward arteries of large and medium diameter. vEDS diagnosis is a challenging process. Patients usually have different phenotypic features and are unaware of the diagnosis at the time of initial vascular complications. The authors report the case of a 39-year-old male patient with EDS type IV, who developed internal carotid artery dissection and was diagnosed with clinical findings, imaging modalities, and a novel pathogenic COL3A1 variant.

中文翻译：

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一种新颖的COL3A1 c.2644G> T；p。（Gly882Cys）土耳其人患有血管性Ehlers-Danlos综合征的变种。

血管性Ehlers-Danlos综合征（vEDS）是常染色体显性疾病，也称为IV型EDS。所有EDS的估计患病率在1 / 10,000到1 / 25,000之间，IV型EDS约占病例的5-10％。血管并发症可能会影响所有解剖区域，并倾向于形成大中直径的动脉。vEDS诊断是一个具有挑战性的过程。患者通常具有不同的表型特征，并且在最初的血管并发症发生时并未意识到诊断。作者报告了一名39岁的IV型EDS男性患者的病例，该患者发展为颈内动脉夹层并被诊断出具有临床发现，成像方式和新型致病性COL3A1变异。