Case Reports of Aortic Aneurism in Fragile X Syndrome

Abstract

Fragile X syndrome (FXS) is an inherited genetic condition that is the leading known cause of inherited intellectual developmental disability. Phenotypically, individuals with FXS also present with distinct physical features including, elongated face, prominent ears, pectus excavatum, macroorchidism, and joint laxity, which suggests connective tissue dysplasia. In addition to mitral valve prolapse, aortic dilatation has been identified within individuals with FXS. Abnormal elastin fiber networks have been found in the skin, valves, and aorta in individual cases. Aortic dilatation has been described in other connective tissue disorders, particularly Marfan syndrome. However, while aortic aneurysms are characteristic of Marfan syndrome, no similar cases have been reported in FXS patients to date. This case report details the presentation of two patients with FXS and aortic aneurysm. Our two cases highlight the risks of aortic pathology in FXS, and the need for monitoring in asymptomatic patients with significant aortic dilatation.

Problematic issues of pathogenesis, diagnosis, prevention and approaches to the treatment of arterial hypotension in children (literary data, own researches)

“…Є повідомлення, що спадкова схильність зумовлена недостатністю регулюючих структур головного мозку або їхньою надмірною реактивністю, а також кількісним дисбалансом білків мембран еритроцитів [14]. Також відомо, що саме в дітей з первинною АГТ часто зустрічаються ознаки синдрому дисплазії сполучної тканини та розширення кореня аорти [18].…”

Editorial for the Fragile X Syndrome Genetics Special Issue: May 2023

“…The study administers an anonymous online survey to find greater than 70% of caregivers with concerns about the future of individuals with FXS whom they cared for, with most concerns regarding the future need for support of younger individuals. Focusing on the physiological issues of FXS, Lewis et al [ 4 ] present two adult males with FXS displaying the aortic aneurism characteristic of Marfan syndrome. The authors conclude that while it is not uncommon for individuals with FXS to be affected with connective tissue disorders including mitral valve prolapse, this is the first report of aortic aneurisms in FXS.…”