The value of molecular diagnostics of the vascular type of Ehlers–Danlos syndrome as a cause of sudden death in the early postpartum period

• Zaklyazminskaya E.V.
• Deev R.V.
• Sadekova M.A.
• Islanov I.O.
• Antonov S.A.
• Biryukov A.E.
• Popov S.O.
• Gracheva N.A.
• Mikhaleva L.M.

Abstract

Epidemiological data on the prevalence of acute aortic dissection in different populations are limited. According to autopsy data, the incidence of aortic dissertation ranges from 0.2% to 0.8% of cases. This formidable complication may be the first manifestation of a number of both syndromic and non-syndromic forms of aortic diseases. In women with known hereditary aortopathies, pregnancy is associated with an increased likelihood of acute aortic events, with the highest risk of dissection occurring from the 3rd trimester to 3 months postpartum, requiring particularly careful monitoring during pregnancy, childbirth and the first year after birth. In this work, we assume a case of fatal aortic dissection in the early postpartum period in young woman who had no previous diagnosis of aortic disease, and post-mortem diagnosis of the established vascular type of Ehlers–Danlos syndrome (EDS) using molecular genetic and histological methods. The article also discusses issues of medical genetic counseling and dynamic monitoring of patients with the vascular type of EDS, as well as ways to optimize interaction with family members of those who died suddenly.

Keywords: vascular Ehlers–Danlos syndrome; sudden death; COL3A1; aortic rupture; post-mortem DNA diagnostics; genetic counseling

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