Abstract
Aortic aneurysms are rare manifestations in children with tuberous sclerosis complex (TSC) with life threating implications. Although an association between TSC, aortic and other aneurysms has been recognized, mechanistic insights explaining the pathophysiology behind aneurysm development and genetic aberrations in TSC have so far been lacking. Here, we summarize existing knowledge on aneurysms in TSC and present a case of a 2-year-old boy with an infrarenal aortic aneurysm, successfully treated with open aortic reconstruction. Histologic examination of the excised aneurysm wall showed distortion of vessel wall structure with loss of elastin and a pathologic accumulation of smooth muscle cells. Until now, these pathologic features have puzzled researchers as proliferating smooth muscle cells would rather be expected to preserve vessel wall integrity. Recent reports exploring the biological consequences of the dysregulated intracellular signaling pathways in patients with TSC provide plausible explanations to this paradox, which may support the development of future therapeutic strategies.
Highlights
Aortic aneurysms are rare manifestations in children with tuberous sclerosis complex (TSC) with life threating implications
Recent insights into the cellular and molecular consequences of mTOR hyperactivity in the vessel wall may support the use of rapalogs for treatment of the vascular manifestations rarely encountered in patients with TSC
(rhabdomyomas) manifestations was incidentally diagnosed with an infrarenal aortic aneurysm during a routine magnetic resonance imaging follow-up of his kidney lesions, which was followed by computed tomography angiography
Summary
(rhabdomyomas) manifestations was incidentally diagnosed with an infrarenal aortic aneurysm during a routine magnetic resonance imaging follow-up of his kidney lesions, which was followed by computed tomography angiography. The aneurysm did not contain any mural thrombus and was distinguished by an exceptionally thick vessel wall compared with the normal aorta (Fig 1). Given this rare condition, the available literature was reviewed and aortic repair planned in a multidisciplinary setting with participation of vascular surgery, pediatric cardiothoracic surgery, pediatric surgery, and pediatric anesthesiology. Anastomotic aneurysms and new ones have been encountered in children with TSC, continued surveillance after repair is recommended.[10]
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