Dietz HC (2022) FBN1-related marfan syndrome. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A (eds) GeneReviews® [Internet]. University of Washington, Seattle, pp 1993–2024. PMID: 20301510

De Paepe A, Devereux RB, Dietz HC et al (1996) Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 62:417–426. https://doi.org/10.1002/(SICI)1096-8628(19960424)62:4%3c417::AID-AJMG15%3e3.0.CO;2-R

Article  PubMed  Google Scholar 

Ahn NU, Sponseller PD, Ahn UM et al (2000) Dural ectasia in the Marfan syndrome: MR and CT findings and criteria. Genet Med 2:173–179. https://doi.org/10.1097/00125817-200005000-00003

Article  CAS  PubMed  Google Scholar 

Oosterhof T, Groenink M, Hulsmans F-J et al (2001) Quantitative assessment of dural ectasia as a marker for Marfan syndrome 1. Radiology 220:514–518. https://doi.org/10.1148/radiol.2202001372

Article  CAS  PubMed  Google Scholar 

Foran JRH, Pyeritz RE, Dietz HC, Sponseller PD (2005) Characterization of the symptoms associated with dural ectasia in the Marfan patient. Am J Med Genet 134A:58–65. https://doi.org/10.1002/ajmg.a.30525

Article  PubMed  Google Scholar 

Hentzen C, Turmel N, Chesnel C et al (2018) Urinary disorders and Marfan syndrome: a series of 4 cases. Urol Int 101:369–371. https://doi.org/10.1159/000484696

Article  PubMed  Google Scholar 

Pichott A, Bernstein T, Guzmán G et al (2020) Dural ectasia and intracranial hypotension in marfan syndrome. Rev Chil Pediatr 91:591–596. https://doi.org/10.32641/rchped.v91i4.1233

Article  PubMed  Google Scholar 

Jones KB, Erkula G, Sponseller PD, Dormans JP (2002) Spine deformity correction in Marfan syndrome. Spine (Phila Pa 1976) 27:2003–2012. https://doi.org/10.1097/00007632-200209150-00008

Article  PubMed  Google Scholar 

Lundby R, Rand-Hendriksen S, Hald JK et al (2009) Dural ectasia in Marfan syndrome: a case control study. Am J Neuroradiol 30:1534–1540. https://doi.org/10.3174/ajnr.A1620

Article  CAS  PubMed  PubMed Central  Google Scholar 

Richards S, Aziz N, Bale S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405–424. https://doi.org/10.1038/gim.2015.30

Article  PubMed  PubMed Central  Google Scholar 

Loeys BL, Dietz HC, Braverman AC et al (2010) The revised Ghent nosology for the Marfan syndrome. J Med Genet 47:476–485. https://doi.org/10.1136/jmg.2009.072785

Article  CAS  PubMed  Google Scholar 

Faivre L, Collod-Beroud G, Loeys BL et al (2007) Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am J Hum Genet 81:454–466. https://doi.org/10.1086/520125

Article  CAS  PubMed  PubMed Central  Google Scholar 

Fattori R, Nienaber CA, Descovich B et al (1999) Importance of dural ectasia in phenotypic assessment of Marfan’s syndrome. Lancet 354:910–913. https://doi.org/10.1016/S0140-6736(98)12448-0

Article  CAS  PubMed  Google Scholar 

Vanem TT, Böker T, Sandvik GF et al (2020) Marfan syndrome: evolving organ manifestations—a 10-year follow-up study. Am J Med Genet A 182:397–408. https://doi.org/10.1002/ajmg.a.61441

Article  PubMed  Google Scholar 

Lacassie HJ, Millar S, Leithe LG et al (2005) Dural ectasia: a likely cause of inadequate spinal anaesthesia in two parturients with Marfan’s syndrome. Br J Anaesth 94:500–504. https://doi.org/10.1093/bja/aei076

Article  CAS  PubMed  Google Scholar 

Sakurai A, Miwa T, Miyamoto Y et al (2014) Inadequate spinal anesthesia in a patient with Marfan syndrome and dural ectasia. A A Case Rep 2:17–19. https://doi.org/10.1097/acc.0b013e3182a52898

Article  PubMed  Google Scholar 

Vara G, Vornetti G, Spinardi L (2023) Iatrogenic spinal intradural hemorrhage in a patient with dural ectasia in Marfan syndrome. Can J Neurol Sci. https://doi.org/10.1017/cjn.2023.288

Article  PubMed  Google Scholar 

Vandenabeele F, Creemers J, Lambrichts I (1996) Ultrastructure of the human spinal arachnoid mater and dura mater. J Anat 189(Pt 2):417–430

PubMed  PubMed Central  Google Scholar 

Jones KB, Myers L, Judge DP et al (2005) Toward an understanding of dural ectasia: a light microscopy study in a murine model of Marfan syndrome. Spine (Phila Pa 1976) 30:291–293. https://doi.org/10.1097/01.brs.0000152166.88174.1c

Article  PubMed  Google Scholar 

Spinardi L, Vornetti G, de Martino S et al (2020) Intracranial arterial tortuosity in marfan syndrome and loeys-dietz syndrome: tortuosity index evaluation is useful in the differential diagnosis. Am J Neuroradiol 41:1916–1922. https://doi.org/10.3174/ajnr.A6732

Article  CAS  PubMed  PubMed Central  Google Scholar 

Vornetti G, De Martino SRM, Baroni MC et al (2023) Prevalence of unruptured intracranial aneurysms in patients with Marfan syndrome: a cross-sectional study and meta-analysis. Eur Stroke J 8:501–507. https://doi.org/10.1177/23969873221149848

Article  PubMed  PubMed Central  Google Scholar 

Arnaud P, Milleron O, Hanna N et al (2021) Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants. Genet Med 23:1296–1304. https://doi.org/10.1038/s41436-021-01132-x

Article  CAS  PubMed  PubMed Central  Google Scholar 

Stengl R, Ágg B, Pólos M et al (2021) Potential predictors of severe cardiovascular involvement in Marfan syndrome: the emphasized role of genotype–phenotype correlations in improving risk stratification—a literature review. Orphanet J Rare Dis 16(1):245

Article  PubMed  PubMed Central  Google Scholar 

Seo GH, Kim YM, Kang E et al (2018) The phenotypic heterogeneity of patients with Marfan-related disorders and their variant spectrums. Medicine (United States) 97. https://doi.org/10.1097/MD.0000000000010767

Stark VC, Hensen F, Kutsche K et al (2020) Genotype–phenotype correlation in children: the impact of FBN1 variants on pediatric Marfan care. Genes (Basel) 11:1–15. https://doi.org/10.3390/genes11070799

Article  CAS  Google Scholar