INTRODUCTION
Marfan syndrome is a rare genetic disorder. Phenotypes are heterogeneous. Dural ectasia often occurs in individuals with Marfan syndrome and is the second most frequent manifestation after aortic root involvement. However, association of dural ectasia with spinal parameters has not been fully described. We aimed to compare spinal parameters assessed using full-spine imaging in standing position, between individuals with Marfan syndrome with dural ectasia, and those without.
METHODS
We conducted a cross-sectional comparative study. All individuals with Marfan syndrome followed in a single centre were screened. Those who had a CT-scan or resonance imaging and a full-spine imaging in standing position (EOS®) were included in the MARFANEOS study. The presence of dural ectasia was assessed using CT-scan or magnetic resonance imaging. Endpoints were pelvic and spinal parameters, assessed by 2 independent investigators, including: pelvic tilt, pelvic incidence, sacral slope, scoliosis, sagittal imbalance, coronal imbalance, Sponseller classification, Roussouly classification. Baseline characteristics of participants were retrieved from medical records.
RESULTS
Overall, 31 individuals were included: 19 (61%) had dural ectasia and 12 (39%) had not. Mean age was 45.9 (11.2) years and 17 (55%) were women. Sponseller type-IC (ie, thoracic kyphosis ≥ 50°) and type-IIB (ie, inversion of the spinal curvature with a thoracic lordosis, thoracolumbar kyphosis and a low set lumbar lordosis) were less frequent in individuals with Marfan syndrome with dural ectasia than without affecting 1/19 (6%) vs 4/12 (33%) (p=0.04) and 0/19 (0%) vs 3/12 (25%) (p=0.02) individuals, respectively. Normal sagittal alignment (ie, Sponseller type-IA and Roussouly type-3) was numerically more frequent in individuals with dural ectasia than without, without reaching statistical significance. The 2 groups did not differ for the other parameters assessed.
DISCUSSION
Individuals with Marfan syndrome and dural ectasia, as compared to individuals with Marfan syndrome without dural ectasia, less often display abnormal thoracolumbar spine alignment.