Prevalence of Intracranial Aneurysms in Patients with Marfan Syndrome: a review

Resumo

A Síndrome de Marfan (EM) é uma doença hereditária do tecido conjuntivo multissistêmico causada por uma mutação no gene FBN- 1 localizado no cromossomo 15q21. Esta mutação prejudica a síntese da fibrilina-1, um componente crucial da matriz extracelular. Como resultado, a Síndrome de Marfan pode afetar vários sistemas de órgãos, sendo o desenvolvimento e/ou ruptura de aneurismas intracranianos uma das complicações mais significativas. Estudos retrospectivos discutidos neste ensaio estimam que a prevalência de aneurismas intracranianos entre indivíduos com Síndrome de Marfan varia de 8,9% a 14%. Esses achados destacam a importância de identificar fatores genéticos e ambientais que possam predispor os indivíduos a aneurismas intracranianos e determinar quais pacientes com Síndrome de Marfan se beneficiariam da triagem por neuroimagem para detecção precoce de potenciais complicações.

Palavras-chave

Aneurisma Intracraniano; Síndrome de Marfan; Detecção precoce

Abstract

Marfan Syndrome (MS) is a hereditary multisystem connective tissue disorder caused by a mutation in the FBN-1 gene located on chromosome 15q21. This mutation impairs the synthesis of fibrillin-1, a crucial component of the extracellular matrix. As a result, Marfan Syndrome can affect various organ systems, with the development and/or rupture of intracranial aneurysms being one of the most significant complications. Retrospective studies discussed in this essay estimate that the prevalence of intracranial aneurysms among individuals with Marfan Syndrome ranges from 8.9% to 14%. These findings highlight the importance of identifying genetic and environmental factors that may predispose individuals to intracranial aneurysms and determining which Marfan Syndrome patients would benefit from neuroimaging screening for early detection of potential complications.

Keywords

Intracranial Aneurysm; Marfan Syndrome; Early detection

References

1. Milewicz DM, Pyeritz RE, Crawford ES, Byers PH. Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts. J Clin Invest. 1992;89(1):79-86. http://doi.org/10.1172/JCI115589. PMid:1729284.

2. Zeigler SM, Sloan B, Jones JA. Pathophysiology and pathogenesis of Marfan Syndrome. Adv Exp Med Biol. 2021;1348:185-206. http:// doi.org/10.1007/978-3-030-80614-9_8. PMid:34807420.

3. Reed E. Pyeritz, Marfan syndrome: improved clinical history results in expanded natural history. Genet Med. 2019;21(8)

4. Parlapiano G, Di Lorenzo F, Salehi LB, Ruvolo G, Novelli G, Sangiuolo F. Neurovascular manifestations in connective tissue diseases: the case of Marfan Syndrome. Mech Ageing Dev. 2020;191:111346. http://doi. org/10.1016/j.mad.2020.111346. PMid:32920077.

5. Belavadi R, Gudigopuram SVR, Raguthu CC, et al. Surgical clipping versus endovascular coiling in the management of intracranial aneurysms. Cureus. 2021;13(12):e20478. http://doi.org/10.7759/cureus.20478. PMid:35047297.

6. Molina GM, Figueira GP, Paiva NS, Hidalgo RCT, Batigália F. Aneurismas intracranianos: epidemiologia e análise morfológica por angiografia digital. Rev Med (São Paulo). 2022;101(3):e-180379.

7. Vornetti G, De Martino SRM, Baroni MC, et al. Prevalence of unruptured intracranial aneurysms in patients with Marfan syndrome: a cross-sectional study and meta-analysis. Eur Stroke J. 2023;8(2):501-7. http://doi.org/10.1177/23969873221149848. PMid:37231696.

8. Domingo RA, Perez-Vega C, Tripathi S, et al. Intracranial aneurysms in patients with Marfan Syndrome: a multicenter propensity-matched analysis. World Neurosurg. 2021 Nov;155:e345-52. http://doi. org/10.1016/j.wneu.2021.08.065. Epub 2021 Aug 21. PMid:34425290.

9. Kim ST, Cloft H, Flemming KD, Kallmes DF, Lanzino G, Brinjikji W. Increased prevalence of cerebrovascular disease in hospitalized patients with Marfan Syndrome. J Stroke Cerebrovasc Dis. 2018;27(2):296- 300. http://doi.org/10.1016/j.jstrokecerebrovasdis.2017.08.036. PMid:29030048.

10. Kim JH, Kim JW, Song SW, et al. Intracranial aneurysms are associated with Marfan Syndrome: Single Cohort Retrospective Study in 118 patients using brain imaging. Stroke. 2021;52(1):331-4. http:// doi.org/10.1161/STROKEAHA.120.032107. PMid:33272132.

11. Kim ST, Brinjikji W, Kallmes DF. Prevalence of intracranial aneurysms in patients with connective tissue diseases: a retrospective study. AJNR Am J Neuroradiol. 2016;37(8):1422-6. http://doi.org/10.3174/ajnr. A4718. PMid:26992822.

Prevalence of Intracranial Aneurysms in Patients with Marfan Syndrome: a review

Prevalência de Aneurismas Intracranianos em Pacientes com Síndrome de Marfan: uma Revisão

Resumo

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Abstract

Keywords

References

JBNC Brazilian Journal of Neurosurgery

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