Marfan Syndrome Is Not Associated With Intracranial Aneurysms

Abstract

Background and Purpose-It has been proposed that patients with Marfan syndrome have an increased prevalence of intracranial aneurysms. This proposition is based on 10 clinical reports, 1 pathology case, and an autopsy series of 7 patients. By contrast, 5 clinical series of Marfan patients have failed to document any such relationship. We present our institution's autopsy and clinical experience with Marfan syndrome and analyze in our patient population the purported association between this condition and intracranial aneurysms. Methods-The results of an autopsy series at the Johns Hopkins Hospital of 25 confirmed Marfan syndrome patients from 1939 to the present were reviewed retrospectively. The prevalence of intracranial aneurysms in this Marfan syndrome autopsy series was compared with that in the autopsy population at this institution and with that in the general autopsy population as reported in the literature. In addition, the prevalence of Marfan syndrome in a recent neurosurgical series of 710 consecutive aneurysm cases (1990 -1998) was determined. Results-Of the 25 autopsy cases, only 1 had evidence on autopsy of an unruptured, 2-mm aneurysmal dilatation at the anterior communicating artery complex. Three autopsy patients suffered intracranial hemorrhages but had negative angiography and postmortem examinations for intracranial aneurysms. The remaining 21 patients had negative autopsies for intracranial hemorrhages or intracranial aneurysms. The neurosurgical series of 710 patients treated for intracranial aneurysms did not include any patient with Marfan syndrome. Conclusions-The prevalence of 1 patient of 25 with an intracranial aneurysm is not statistically different from the 1.3% prevalence of intracranial aneurysms in the autopsy population at this institution (Pϭ0.24) or from the 2.0% prevalence of intracranial aneurysms in the general autopsy population (Pϭ0.31). We therefore conclude that there exists no evidence that Marfan syndrome is associated with an increased prevalence of intracranial aneurysms. (Stroke. 1999;30:1632-1636.)

Prevalence of Intracranial Aneurysms in Patients with Connective Tissue Diseases: A Retrospective Study

“…In a postmortem series of 25 patients with Marfan syndrome, Conway et al 1 found an aneurysm prevalence of just 4%. In addition, in a series of 129 patients with Marfan syndrome, van den Berg et al 2 found no patients who presented with a symptomatic intracranial aneurysm.…”

“…Early studies suggesting an association between Marfan syndrome and intracranial aneurysms were limited to small case series and case reports. 1 However, larger studies have since suggested that there is no association between aneurysms and Marfan syndrome. [1][2][3] Nonetheless, the association is still widely cited in the literature.…”

“…[1][2][3] Nonetheless, the association is still widely cited in the literature. [1][2][3] In addition to Marfan syndrome, associations between connective tissue diseases, such as neurofibromatosis type 1 (NF1), Ehlers-Danlos syndrome (EDS), and Loeys-Dietz syndrome (LDS), and neurovascular lesions such as intracranial aneurysms have also been suggested. However, relatively few series have been published on the prevalence of aneurysms in these populations.…”

Neurovascular Complications of Marfan Syndrome

“…Two recent studies, however, cast doubt on the supposed association between cerebral aneurysm and Marfan syndrome. 22,23 No investigation of the prevalence and nature of neurovascular complications has been performed in a large group of patients. We therefore undertook a retrospective, hospital-based study of Marfan patients followed in the specialized Marfan clinic or admitted to the Johns Hopkins Hospital (JHH) over an 8-year period to assess the frequency, presentation, and etiology of neurovascular complications this disorder.…”

Monogenic Vessel Diseases Related to Ischemic Stroke: A Clinical Approach

“…Wityk et al, noting that most strokes are cardioembolic, cast doubt on the association between spontaneous, isolated internal carotid artery dissection and MFS. Other two studies raised a similar question of whether there is truly an association of intracranial aneurysm with MFS (Conway et al, 1999;van den Berg et al, 1996). The skeletal manifestations include tall stature, pectus excavatum, or carinatum, higharched palate, arachnodactyly, laxity of ligaments with scoliosis, or joint hyperextensibility (Pyeritz, 2000).…”