[Dissection of the internal carotid artery in a patient with connective tissue dysplasia having risk variants of several candidate genes]. / Dissektsiia vnutrennei sonnoi arterii u patsientki s displaziei soedinitel'noi tkani i nositel'stvom potentsial'no znachimykh variantov neskol'kikh polimorfnykh genov-kandidatov.

Spontaneous dissection of the vessels of the neck is one of the main causes of ischemic stroke in young patients under 45 years of age. According to morphological studies, dissection of the vessels of the neck can be based on dysplastic changes in the arterial wall in arteriopathies, Marfan syndrome, Ehlers-Danlos syndrome, undifferentiated connective tissue dysplasia. The article presents a case of spontaneous dissection of the internal carotid artery in a 30-year-old patient with clinical manifestations of undifferentiated connective tissue dysplasia and carriage of homozygous variants of candidate genes: 4G/4G of the PAI-1 (-675, 4G/5G), T/T of the MTHFR C677T, 5A/5A of the MMP-3 (-1171 5A/6A) and A/A of the MMP-9 (8202A/G).

[Cerebral vascular syndrome of connective tissue dysplasia as a cause of subarachnoid hemorrhage in young patients]. / Tserebral'nyi sosudistyi sindrom displazii soedinitel'noi tkani kak prichina subarakhnoidal'nykh krovoizliianii u patsientov molodogo vozrasta.

AIM: To clarify the role of connective tissue dysplasia (CTD) in the development and course of intracranial arterial aneurysm (IAA) and arteriovenous malformation (AVM) in young patients. MATERIAL AND METHODS: The first stage of the study was a prospective 7-year follow-up of 549 patients with CDT signs, aged from 18 to 45 years, mean 23.51±8.67 years. The first stage included a comparative analysis of clinical characteristics of patients with DST with asymptomatic pathology of cerebral vessels and patients with DST without this pathology. At the second stage, there was a comparative study in 2 groups of patients with symptomatic pathology of cerebral vessels (AAA and/or AVM): with CTD (n=58) and without CTD (n=135). RESULTS: Symptomatic AAA and/or AVM were identified in 10.56% of young people with CTD including 37 patients with subarachnoid hemorrhages (SAH). The age of clinical manifestations was 25.55±8.13 years. Expressed manifestations of CTD were more frequent in the group of patients with cerebral vascular pathology compared to patients without CTD (p=0.008). The majority of patients had CTD manifestations of 3 or more systems, less than 2 systems were not involved, 12 patients had small abnormalities and/or malformations of the heart and other vessels. Hypertension, pathology of the vertebral arteries, skin, spine, veins, fully open Willis circle were independent risk factors for symptomatic pathology of cerebral vessels in patients with CTD. AVM and AAA in young patients with CTD compared with patients without CTD were characterized by the manifestation at an earlier age (25.55±8.13 years and 36.10±10.58 years, respectively; p=0.000), a more frequent combination with a fully open Willis circle (56.90 and 25.19%, respectively; df=1; p=0.000), more frequent multiple pathologies (15.52 and 4.44%, respectively, p=0.008), EAA in the posterior vascular bed (15.52 and 3.70%, respectively, p=0.004), SAH (63.79 and 35.56%, respectively, p=0.000) with lesser effects of general population risk factors. CONCLUSION: EAA and AVM in patients with CTD are likely to be considered in the context of vascular syndrome of connective tissue dysmorphogenesis, and CTD as a factor of adverse prognosis of IAA and AVM.