# Thoracic Aortic Aneurysm Following Blunt Trauma in a Patient with a Monoallelic SLC2A10 Variant: A Case Report

## TL;DR

A woman with a rare genetic variant had a thoracic aortic aneurysm after blunt trauma, suggesting a link between the variant and vascular fragility.

## Contribution

Identifies a potential association between monoallelic SLC2A10 variants and vascular fragility following trauma.

## Key findings

- A patient with a SLC2A10 variant had a thoracic aortic aneurysm after blunt trauma.
- Histology showed disorganized elastic fibers, indicating vascular fragility.
- Genetic testing revealed a heterozygous missense variant in SLC2A10.

## Abstract

A female in her early 40s with no skeletal abnormalities was incidentally found to have a 45-mm saccular aneurysm at the aortic isthmus during evaluation for pharyngitis. She had sustained blunt trauma 20 years earlier, resulting in multiple fractures and pneumothorax. Her family history included premature vascular or sudden death and scoliosis. Imaging showed no arterial tortuosity. She underwent successful open surgical repair. Histologic examination revealed disorganized elastic fibers with irregular thickening and partial loss of lamellar architecture. Postoperative genetic testing identified a heterozygous missense variant in SLC2A10, suggesting a possible association between monoallelic variants and vascular fragility.