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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Aortic aneurysms in children and young adults with tuberous sclerosis: report of two cases and review of the literature.

Abdominal aortic aneurysms (AAAs) in children and young adults are rare; some have been observed in patients with tuberous sclerosis ( TS). We report two cases and review the literature. A 9-year-old girl with TS was diagnosed with a 3-cm calcified AAA, and a 41-year-old man with TS was diagnosed with a 7.5-cm thoracic aortic aneurysm (TAA). Both patients underwent open repair with a tube polyester graft without complication. They are both doing well at 7 and 8 years after surgery. Pathologic evaluation revealed medial atrophy and focal medial disruption in the aortic wall in both patients. With our two cases, 15 patients with TS and aneurysms have been reported; 12 had AAA, and four had TAA (one patient had both). Three AAAs and two TAAs ruptured. Six patients died because of aneurysmal disease. There is an association between TS and aortic aneurysms. Patients should be screened for aortic aneurysms at the time TS is diagnosed and annually thereafter. Because of the high risk of rupture, early elective repair is suggested. New aortic aneurysms after repair may also develop.[1]

References

  1. Aortic aneurysms in children and young adults with tuberous sclerosis: report of two cases and review of the literature. Jost, C.J., Gloviczki, P., Edwards, W.D., Stanson, A.W., Joyce, J.W., Pairolero, P.C. J. Vasc. Surg. (2001) [Pubmed]
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