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

BACKGROUND AND PURPOSE: Few studies have examined the prevalence of intracranial aneurysms in connective tissue diseases such as Marfan syndrome, Ehlers-Danlos syndrome, neurofibromatosis type 1, and Loeys-Dietz syndrome. We studied the prevalence of intracranial aneurysms and other intracranial neurovascular pathologies such as arteriovenous malformations and intracranial dissections, in these 4 patient populations.

MATERIALS AND METHODS: We retrospectively reviewed all patients who had a clinical diagnosis of Marfan syndrome, Ehlers-Danlos syndrome, neurofibromatosis type 1, or Loeys-Dietz syndrome who underwent MRA, CTA, and/or DSA imaging of the intracranial circulation between January 1, 2005, and January 31, 2015. The presence, location, and maximum dimensions of intracranial aneurysms were catalogued. Other neurovascular findings studied included intracranial dissections and arteriovenous fistulas and shunts. Baseline data collected included demographic characteristics (sex, age, smoking history), imaging modality, and cardiovascular comorbidities.

RESULTS: The prevalence of intracranial saccular and fusiform aneurysms was as follows: 14% (8/59) among patients with Marfan syndrome, 12% (12/99) among patients with Ehlers-Danlos syndrome, 11% (5/47) among patients with neurofibromatosis type 1, and 28% (7/25) among patients with Loeys-Dietz syndrome. Intracranial dissections were found in 2 patients (3%) with Marfan syndrome and 1 patient (1%) with Ehlers-Danlos syndrome. No intracranial dissections were found in patients with neurofibromatosis type 1 or Loeys-Dietz syndrome.

CONCLUSIONS: Patients with connective tissue disorders, including Marfan syndrome, Ehlers-Danlos syndrome, neurofibromatosis type 1, and Loeys-Dietz syndrome, have a high prevalence of intracranial aneurysms.