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Case Reports
. 2022 Aug 30;13(9):1560.
doi: 10.3390/genes13091560.

Case Reports of Aortic Aneurism in Fragile X Syndrome

Sivan Lewis  1 , Andrew DePass  1 , Randi J Hagerman  2 , Reymundo Lozano  1   3
Affiliations
Case Reports

Case Reports of Aortic Aneurism in Fragile X Syndrome

Sivan Lewis et al. Genes (Basel). .

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.

Keywords: aortic aneurysm; aortic dilatation; connective tissue disorder; fragile X syndrome; intellectual disability.

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Conflict of interest statement

The authors declare no conflict of interest.

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