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Quantitative measurement of dural ectasia: associations with clinical and genetic characteristics in Marfan syndrome

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Abstract

Purpose

Dural ectasia (DE) may significantly impact Marfan syndrome (MFS) patients’ quality of life due to chronic lower back pain, postural headache and urinary disorders. We aimed to evaluate the association of quantitative measurements of DE, and their evolution over time, with demographic, clinical and genetic characteristics in a cohort of MFS patients.

Methods

We retrospectively included 88 consecutive patients (39% females, mean age 37.1 ± 14.2 years) with genetically confirmed MFS who underwent at least one MRI or CT examination of the lumbosacral spine. Vertebral scalloping (VS) and dural sac ratio (DSR) were calculated from L3 to S3. Likely pathogenic or pathogenic FBN1 variants were categorized as either protein-truncating or in-frame. The latter were further classified according to their impact on the cysteine content of fibrillin-1.

Results

Higher values of the systemic score (revised Ghent criteria) were associated with greater DSR at lumbar (p < 0.001) and sacral (p = 0.021) levels. Patients with protein-truncating variants exhibited a greater annual increase in lumbar (p = 0.039) and sacral (p = 0.048) DSR. Mutations affecting fibrillin-1 cysteine content were linked to higher VS (p = 0.009) and DSR (p = 0.038) at S1, along with a faster increase in VS (p = 0.032) and DSR (p = 0.001) in the lumbar region.

Conclusion

Our study shed further light on the relationship between genotype, dural pathology, and the overall clinical spectrum of MFS. The identification of protein-truncating variants and those impacting cysteine content may therefore suggest closer patient monitoring, in order to address potential complications associated with DE.

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Funding

No funding was received to assist with the preparation of this manuscript.

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Authors and Affiliations

  1. IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy

    Gianfranco Vornetti, Luigi Cirillo, Elena Cantoni, Greta Venturi, Caterina Tonon & Raffaele Lodi

  2. Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy

    Gianfranco Vornetti, Giulio Vara, Luigi Cirillo, Stefano Ratti, Caterina Tonon & Raffaele Lodi

  3. Diagnostic and Interventional Radiology, Ospedale Civile Umberto I, Lugo, RA, Italy

    Giulio Vara

  4. IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy

    Maria Chiara Baroni, Elisabetta Mariucci, Andrea Donti & Luca Spinardi

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  1. Gianfranco Vornetti
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  2. Giulio Vara
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  4. Elisabetta Mariucci
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Correspondence to Raffaele Lodi.

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The authors have no relevant financial or non-financial interests to disclose.

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This study was performed in line with the principles of the Declaration of Helsinki. Approval was granted by the local ethical committee (CE—AVEC, reference code: EM624-2019_246/2016/O/Oss/AOUBo).

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Vornetti, G., Vara, G., Baroni, M.C. et al. Quantitative measurement of dural ectasia: associations with clinical and genetic characteristics in Marfan syndrome. Eur Spine J (2024). https://doi.org/10.1007/s00586-024-08252-3

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