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14.04.2024 | Original Article

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

verfasst von: Gianfranco Vornetti, Giulio Vara, Maria Chiara Baroni, Elisabetta Mariucci, Andrea Donti, Luigi Cirillo, Stefano Ratti, Elena Cantoni, Greta Venturi, Caterina Tonon, Raffaele Lodi, Luca Spinardi

Erschienen in: European Spine Journal

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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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Titel: Quantitative measurement of dural ectasia: associations with clinical and genetic characteristics in Marfan syndrome
verfasst von: Gianfranco Vornetti
Giulio Vara
Maria Chiara Baroni
Elisabetta Mariucci
Andrea Donti
Luigi Cirillo
Stefano Ratti
Elena Cantoni
Greta Venturi
Caterina Tonon
Raffaele Lodi
Luca Spinardi
Publikationsdatum: 14.04.2024
Verlag: Springer Berlin Heidelberg
Erschienen in: European Spine Journal
Print ISSN: 0940-6719
Elektronische ISSN: 1432-0932
DOI: https://doi.org/10.1007/s00586-024-08252-3

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Die Highlights vom Kongress des American College of Cardiology 2024

Springer Medizin

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

Abstract

Purpose

Methods

Results

Conclusion

Arthropedia

Neu im Fachgebiet Orthopädie und Unfallchirurgie

Mehr Frauen im OP – weniger postoperative Komplikationen

TEP mit Roboterhilfe führt nicht zu größerer Zufriedenheit

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Ein Drittel der jungen Ärztinnen und Ärzte erwägt abzuwandern

Update Orthopädie und Unfallchirurgie

Die Highlights vom Kongress des American College of Cardiology 2024

Springer Medizin

Abstract

Purpose

Methods

Results

Conclusion

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Arthropedia

Neu im Fachgebiet Orthopädie und Unfallchirurgie

Mehr Frauen im OP – weniger postoperative Komplikationen

TEP mit Roboterhilfe führt nicht zu größerer Zufriedenheit

Lever-Sign-Test hilft beim Verdacht auf Kreuzbandriss

Ein Drittel der jungen Ärztinnen und Ärzte erwägt abzuwandern

Update Orthopädie und Unfallchirurgie