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Neurovascular manifestations in connective tissue diseases: The case of Marfan Syndrome.
Mechanisms of Ageing and Development ( IF 5.3 ) Pub Date : 2020-09-10 , DOI: 10.1016/j.mad.2020.111346
Giovanni Parlapiano 1 , Francesca Di Lorenzo 1 , Leila B Salehi 1 , Giovanni Ruvolo 2 , Giuseppe Novelli 3 , Federica Sangiuolo 3
Affiliation  

Patients with connective tissue diseases (CTDs) are suspected to be at higher risk for cerebrovascular involvement, such as intracranial aneurysms, dissections and strokes, than the general population. Particularly, Marfan Syndrome (MFS) has been reported as associated with an increased risk of cerebrovascular alterations. Literature data report different prevalence of intracranial aneurysms in MFS, ranging from 4 % to 29 %, suggesting a role of genetic cause that involves the regulation of the TGF-β signaling. Ischemic and hemorrhagic strokes have been also reported in MFS, but with an estimated prevalence from 3 % to 4 %. However, the aetiology of both events appears to be reliable more to a cardiac source than to the primary connective tissue defect. Finally, the available literature suggests that MFS patients have a higher prevalence of arterial tortuosity of neck and head vessels and these findings may be related to an enhanced chance of dissection.

Overall, despite of the lack of studies, we could affirm that it may exists an increased prevalence of some neurovascular findings in MFS patients. Nevertheless, further studies are required to determine the true prevalence of these features and investigate specific gene mutations involved in MFS.



中文翻译:

结缔组织疾病中的神经血管表现:以马凡综合征为例。

与一般人群相比,结缔组织病 (CTD) 患者被怀疑具有更高的脑血管受累风险,例如颅内动脉瘤、夹层和中风。特别是,据报道马凡综合征 (MFS) 与脑血管改变的风险增加有关。文献数据报告了 MFS 中颅内动脉瘤的不同患病率,范围从 4% 到 29%,表明遗传原因的作用涉及 TGF-β 信号传导的调节。MFS 中也有缺血性和出血性中风的报道,但估计患病率在 3% 到 4% 之间。然而,与原发性结缔组织缺陷相比,这两种事件的病因似乎对心脏来源更可靠。最后,

总体而言,尽管缺乏研究,但我们可以肯定,MFS 患者中某些神经血管发现的患病率可能增加。然而,需要进一步的研究来确定这些特征的真实流行程度并调查 MFS 中涉及的特定基因突变。

更新日期:2020-09-13
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