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.
Uesugi et al. (Thu,) studied this question.