ArticleJVS-vascular science2021
Resolving the biological paradox of aneurysm formation in children with tuberous sclerosis complex.
Article in JVS-vascular science, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 5 citations in OpenAlex.
- Surgical management of type IV thoracoabdominal aortic aneurysm in a 4-year-old child: A case report and review of the literature.Journal of vascular surgery cases and innovative techniques · 2026Article
- Surgical trapping and everolimus therapy for a giant internal carotid aneurysm in pediatric tuberous sclerosis complex: case report and literature review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2025Review
- Recurrent symptomatic aortic aneurysm in a young girl with tuberous sclerosis complex and review of the literature.Journal of vascular surgery cases and innovative techniques · 2023Article
- Popliteal artery aneurysm in a 14-year-old boy with tuberous sclerosis complex.Journal of vascular surgery cases and innovative techniques · 2023Article
- Brachial and subclavian arteries aneurysms due to tuberous sclerosis complex mechanisms - case report and literature review.Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologieReview
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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