Detection of dural ectasia in diagnosis of Marfan’s syndrome

Background: Marfan’s syndrome is an inherited connective tissue disorder that affects many organ systems and has widespread phenotype expression. The diagnosis is therefore made by phenotype assessment. Dural ectasia has been classified as a major diagnostic criterium with a prevalence of over 90% in patients with Marfan’s syndrome. The objective of this study determine the feasibility of performing CT angiographic examination of aorta and large vessels for dural ectasia grading in a single CT exam of patients with Marfan’s syndrome. Patients and methods: 7 examinations in Marfan patients were performed of which 6 were CTA. In all exams the aorta was evaluated and simultaneously the lumbosacral region of the spine was well delineated. We performed calculation of spinal canal (SCI) and dural sac (DSI) indices and also qualitative grading of dural sac involvement. Results: In 4 patients both SCI (> 4,50) and DSI (> 3,75) fulfil the diagnostic criteria of Marfan’s syndrome. In 1 patient complete spondyloptosis was detected. Conclusions: Whole body CT examination is the perfect tool for both aorta and spinal canal evaluation. Despite differences in spinal canal grading methods in all of our patients significant changes of the spinal canal in the lumbosacral region were detected. Dural ectasia is easy to detect and quantify and may therefore be used as a sensitive and specific sign of Marfan’s syndrome.

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Widening of the spinal canal and dural ectasia in Marfan's syndrome: assessment by CT

Neuroradiology ◽

10.1007/s002340050856 ◽

1999 ◽

Vol 41 (11) ◽

pp. 850-854 ◽

Cited By ~ 49

Author(s):

G. M. Villeirs ◽

A. J. Van Tongerloo ◽

K. L. Verstraete ◽

M. F. Kunnen ◽

A. M. De Paepe

Keyword(s):

Spinal Canal ◽

Marfan’S Syndrome ◽

Marfan's Syndrome ◽

Dural Ectasia

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Acute Type A Dissection during Pregnancy with Marfan's Syndrome

The Thoracic and Cardiovascular Surgeon Reports ◽

10.1055/s-0040-1722705 ◽

2021 ◽

Vol 10 (01) ◽

pp. e18-e21

Author(s):

Christian Heim ◽

Philipp P. Müller ◽

Michael Weyand ◽

Frank Harig

Keyword(s):

Aortic Dissection ◽

Vascular System ◽

Three Dimensional ◽

Connective Tissue Disorder ◽

Interdisciplinary Treatment ◽

Acute Type ◽

Marfan’S Syndrome ◽

Marfan's Syndrome ◽

Organ Systems ◽

Increased Risk

Abstract Background Marfan's syndrome (MFS) is a connective tissue disorder, caused by a mutation in the FBN-1 gene and affecting multiple organ systems including the vascular system. During pregnancy, women with MFS have an increased risk of aortic dissection due to changes in the cardiovascular system. Case Description We present a 39-year-old woman that suffered from an acute aortic dissection in week 33 of her third pregnancy who urgently required lifesaving surgery. Three-dimensional reconstruction of computed tomography scan was performed with unborn child in utero. Conclusion Monitoring of patients with suspected or confirmed MFS appears essential and interdisciplinary treatment and prevention strategies are required.

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Dural ectasia: a likely cause of inadequate spinal anaesthesia in two parturients with Marfan's syndrome

British Journal of Anaesthesia ◽

10.1093/bja/aei076 ◽

2005 ◽

Vol 94 (4) ◽

pp. 500-504 ◽

Cited By ~ 49

Author(s):

H.J. Lacassie ◽

S. Millar ◽

L.G. Leithe ◽

H.A. Muir ◽

R. Montaña ◽

...

Keyword(s):

Spinal Anaesthesia ◽

Marfan’S Syndrome ◽

Marfan's Syndrome ◽

Dural Ectasia

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Checklist and Scoring System for the Assessment of Soft Tissue Preservation in CT Examinations of Human Mummies: Application to the Tyrolean Iceman

RöFo - Fortschritte auf dem Gebiet der Röntgenstrahlen und der bildgebenden Verfahren ◽

10.1055/s-0043-116668 ◽

2017 ◽

Vol 189 (12) ◽

pp. 1152-1160

Author(s):

Stephanie Panzer ◽

Patrizia Pernter ◽

Dario Piombino-Mascali ◽

Rimantas Jankauskas ◽

Stephanie Zesch ◽

...

Keyword(s):

Soft Tissue ◽

Scoring System ◽

Soft Tissues ◽

Whole Body ◽

Slice Thickness ◽

Tissue Preservation ◽

Soft Tissue Preservation ◽

Whole Body Ct ◽

Organ Systems ◽

Tyrolean Iceman

Purpose Soft tissues make a skeleton into a mummy and they allow for a diagnosis beyond osteology. Following the approach of structured reporting in clinical radiology, a recently developed checklist was used to evaluate the soft tissue preservation status of the Tyrolean Iceman using computed tomography (CT). The purpose of this study was to apply the “Checklist and Scoring System for the Assessment of Soft Tissue Preservation in CT Examinations of Human Mummies” to the Tyrolean Iceman, and to compare the Iceman’s soft tissue preservation score to the scores calculated for other mummies. Materials and Methods A whole-body (CT) (SOMATOM Definition Flash, Siemens, Forchheim, Germany) consisting of five scans, performed in January 2013 in the Department of Radiodiagnostics, Central Hospital, Bolzano, was used (slice thickness 0.6 mm; kilovolt ranging from 80 to 140). For standardized evaluation the “CT Checklist and Scoring System for the Assessment of Soft Tissue Preservation in Human Mummies” was used. Results All checkpoints under category “A. Soft Tissues of Head and Musculoskeletal System” and more than half in category “B. Organs and Organ Systems” were observed. The scoring system accounted for a total score of 153 (out of 200). The comparison of the scores between the Iceman and three mummy collections from Vilnius, Lithuania, and Palermo, Sicily, as well as one Egyptian mummy resulted in overall higher soft tissue preservation scores for the Iceman. Conclusion Application of the checklist allowed for standardized assessment and documentation of the Iceman’s soft tissue preservation status. The scoring system allowed for a quantitative comparison between the Iceman and other mummies. The Iceman showed remarkable soft tissue preservation. Key Points Citation Format

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Dural ectasia and the diagnosis of Marfan's syndrome

The Lancet ◽

10.1016/s0140-6736(99)00168-3 ◽

1999 ◽

Vol 354 (9182) ◽

pp. 878-879 ◽

Cited By ~ 13

Author(s):

Anne De Paepe

Keyword(s):

Marfan’S Syndrome ◽

Marfan's Syndrome ◽

Dural Ectasia

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Marfan's syndrome: an overview

Sao Paulo Medical Journal ◽

10.1590/s1516-31802010000600009 ◽

2010 ◽

Vol 128 (6) ◽

pp. 360-366 ◽

Cited By ~ 19

Author(s):

Shi-Min Yuan ◽

Hua Jing

Keyword(s):

Connective Tissue ◽

Aortic Surgery ◽

Clinical Manifestations ◽

The Body ◽

Dominant Negative ◽

Dominant Negative Effect ◽

Contributory Factor ◽

Marfan’S Syndrome ◽

Marfan's Syndrome ◽

Organ Systems

Marfan's syndrome is an autosomal dominant condition with an estimated prevalence of one in 10,000 to 20,000 individuals. This rare hereditary connective tissue disorder affects many parts of the body. The diagnosis of Marfan's syndrome is established in accordance with a review of the diagnostic criteria, known as the Ghent nosology, through a comprehensive assessment largely based on a combination of major and minor clinical manifestations in various organ systems and the family history. Aortic root dilation and mitral valve prolapse are the main presentations among the cardiovascular malformations of Marfan's syndrome. The pathogenesis of Marfan's syndrome has not been fully elucidated. However, fibrillin-1 gene mutations are believed to exert a dominant negative effect. Therefore, Marfan's syndrome is termed a fibrillinopathy, along with other connective tissue disorders with subtle differences in clinical manifestations. The treatment may include prophylactic β-blockers and angiotensin II-receptor blockers in order to slow down the dilation of the ascending aorta, and prophylactic aortic surgery. Importantly, β-blocker therapy may reduce TGF-β activation, which has been recognized as a contributory factor in Marfan's syndrome. The present article aims to provide an overview of this rare hereditary disorder.

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