Resolving the biological paradox of aneurysm formation in children with tuberous sclerosis complex
Hedin, Ulf ; Brunnström, Hans LU
; Dahlin, Maria
; Backman, Torbjörn
LU
; Perez de Sa, Valeria
LU
and Tran, Phan Kiet
LU
(2021)
In JVS-Vascular Science
2.
p.72-78
- 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... (More)
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.
(Less)
- author
- Hedin, Ulf
; Brunnström, Hans
LU
; Dahlin, Maria
; Backman, Torbjörn
LU
; Perez de Sa, Valeria
LU
and Tran, Phan Kiet
LU
- organization
- publishing date
- 2021-01
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Aortic aneurysms, mTOR signaling, Smooth muscle cell phenotype, Tuberous sclerosis
- in
- JVS-Vascular Science
- volume
- 2
- pages
- 72 - 78
- publisher
- Elsevier
- external identifiers
-
- pmid:34617060
- scopus:85131704743
- ISSN
- 2666-3503
- DOI
- 10.1016/j.jvssci.2021.05.003
- language
- English
- LU publication?
- yes
- id
- 233b766e-2740-4db7-a633-cddb4de70f99
- date added to LUP
- 2022-08-19 16:59:11
- date last changed
- 2024-04-04 03:08:03
@article{233b766e-2740-4db7-a633-cddb4de70f99,
abstract = {{<p>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.</p>}},
author = {{Hedin, Ulf and Brunnström, Hans and Dahlin, Maria and Backman, Torbjörn and Perez de Sa, Valeria and Tran, Phan Kiet}},
issn = {{2666-3503}},
keywords = {{Aortic aneurysms; mTOR signaling; Smooth muscle cell phenotype; Tuberous sclerosis}},
language = {{eng}},
pages = {{72--78}},
publisher = {{Elsevier}},
series = {{JVS-Vascular Science}},
title = {{Resolving the biological paradox of aneurysm formation in children with tuberous sclerosis complex}},
url = {{http://dx.doi.org/10.1016/j.jvssci.2021.05.003}},
doi = {{10.1016/j.jvssci.2021.05.003}},
volume = {{2}},
year = {{2021}},
}