Regarding "Prevalence of intracranial aneurysms in Marfan syndrome".

We read with great interest the article by Laczynski et al1Laczynski D.J. Dong S. Kalahasti V. et al.Prevalence of intracranial aneurysms in Marfan syndrome.J Vasc Surg. 2023; 78: 633-637Abstract Full Text Full Text PDF PubMed Scopus (3) Google Scholar reporting a 7.1% prevalence of intracranial aneurisms (IAs) in patients with Marfan syndrome (MFS). Despite a somewhat larger patient cohort, in our opinion, the study bears similar methodological limitations as previous retrospective reports on the same subject,2Domingo R.A. Perez-Vega C. Tripathi S. et al.Intracranial aneurysms in patients with Marfan syndrome: a multicenter propensity-matched analysis.World Neurosurg. 2021; 155: e345-e352Crossref PubMed Scopus (3) Google Scholar,3Kim J.H. Kim J.W. Song S.W. et al.Intracranial aneurysms are associated with marfan syndrome: single cohort retrospective study in 118 patients using brain imaging.Stroke. 2020; 52: 331-334Crossref PubMed Scopus (9) Google Scholar which also found a high frequency of IAs. On the contrary, a recent cross-sectional study on genetically confirmed patients with MFS, undergoing magnetic resonance angiography for the sole purpose of IA screening, identified a 3% prevalence of this cerebrovascular pathology4Vornetti G. De Martino S.R.M. Baroni M.C. et al.Prevalence of unruptured intracranial aneurysms in patients with Marfan syndrome: a cross-sectional study and meta-analysis.Eur Stroke. 2023; 8: 501-507Crossref PubMed Scopus (3) Google Scholar—akin to the one reported in the general population.5Vlak MH M. Algra A. Brandenburg R. et al.Prevalence of unruptured intracranial aneurysms, with emphasis on sex, age, comorbidity, country, and time period: a systematic review and meta-analysis.Lancet Neurol. 2011; 10: 626-662Abstract Full Text Full Text PDF PubMed Scopus (1222) Google Scholar Apart from the potential for selection bias due to the inclusion of patients undergoing neuroimaging for neurological symptoms, the high IA prevalence reported by Laczynski et al may be influenced by the inadvertent inclusion of patients with other connective tissue disorders misdiagnosed as MFS. The lack of genetic testing, together with the wide study period—partially predating the first description of Loeys-Dietz syndrome—may have led to the inclusion of patients with this connective tissue disorder, whose high prevalence of IA has been widely reported.6Spinardi L. Mariucci E. Vornetti G. et al.High prevalence of arterial dissection in patients with Loeys–Dietz syndrome and cerebral aneurysm.Vasc Med. 2020; 25: 218-220Crossref PubMed Scopus (7) Google Scholar,7Huguenard A.L. Johnson G.W. Osbun J.W. Dacey R.G. Braverman A.C. Frequency of screening-detected intracranial aneurysms in patients with Loeys-Dietz syndrome.Circulation. 2022; 146: 142-143Crossref PubMed Scopus (3) Google Scholar Indeed, many of the features included in the systemic score of the revised Ghent nosology can also be found among patients with Loeys-Dietz syndrome, whose typical craniofacial anomalies are not always present,8Spinardi L. Vornetti G. de Martino S. et al.Intracranial arterial tortuosity in marfan syndrome and Loeys-Dietz syndrome: Tortuosity index evaluation is useful in the differential diagnosis.Am J Neuroradiol. 2020; 41: 1916-1922Crossref PubMed Scopus (7) Google Scholar contributing to the risk of misdiagnosis in the absence of genetic testing. In conclusion, we believe that retrospective studies on inhomogeneous cohort of patients recruited across decades will not be able to accurately estimate IA prevalence in the general MFS population, whose potential inflation may cause unnecessary alarm among clinicians and patients alike. Hopefully, future prospective case-control studies, including several centers and a large number of patients with genetically confirmed MFS, will resolve once and for all the debate on the association between IA and this connective tissue disorder. Prevalence of intracranial aneurysms in Marfan syndromeJournal of Vascular SurgeryVol. 78Issue 3PreviewAneurysmal pathology of the aorta is well-defined in the Marfan syndrome (MFS) population. Owing in part to the rarity of pathologies, the prevalence of intracranial aneurysms (IA) in MFS is poorly defined. There is debate as to whether or not there is an association between the two. The aim of this study was to evaluate the prevalence of IA in a population of patients with MFS who underwent intracranial imaging. Full-Text PDF ReplyJournal of Vascular SurgeryVol. 78Issue 4PreviewWe appreciate the interest in our article1 and the further discourse. As acknowledged in the manuscript, most of our cohort did not undergo genetic testing, so alternative connective tissue disorders are possible. The article by Vornetti et al certainly provides compelling evidence for overestimation; however, it is also limited in size.2 We would caution that this is underpowered to answer the most important question, which is the rate of rupture. Prevalence is just the beginning of the investigation. Full-Text PDF