Spinal and pelvic parameters in Marfan’s syndrome and their relevance to surgical planning

Loubresse, C. Garreau de; Mullins, M; Moura, Bertrand; Marmorat, J.-L.; Piriou, P.; Judet, T.

doi:10.1302/0301-620x.88b4.17034

Cited by 13 publications

(4 citation statements)

References 12 publications

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“…The prevalence of lens subluxation or luxation in our study, 62%, is the average of what is reported, 43,4 whereas the prevalence of fulfilling the major criteria for the skeletal system was 38%; other reports show large variation. 23,24 The involvement of skin and integument is comparable with the highest prevalence published. 23,27,44 Spontaneous pneumothorax has been rare in our cohort, whereas blebs in the lungs were found more often.…”

Section: Ghent Evaluation Of 105 Norwegian Adults S Rand-hendriksen Esupporting

confidence: 61%

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Prevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndrome

et al. 2009

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The prevalence of each single feature in the Ghent criteria in patients with Marfan syndrome (MFS) is not known. To elucidate this, a cross-sectional study of 105 adults with presumed MFS was carried out. All patients were examined by the same group of investigators with standardized and complete assessment of all features in the Ghent criteria. Eighty-seven (83%) fulfilled the criteria in 56 different variants. The most prevalent major criterion in Ghent-positive persons was dural ectasia (91%), followed by major genetic criterion (89%) and ectopic lenses (62 %). In 14 persons (16%), the diagnosis was dependent on the dural findings. In all, 79% fulfilled both major dural and major genetic (positive family history and/or FBN1 mutation) criteria, suggesting that most patients with MFS might be identified by investigating these criteria. A history or finding of ascending aortic disease was present in 46 patients (53%). This low prevalence might partly reflect a high number of diagnosed patients encompassing the whole spectrum of the syndrome. The study confirms the need to examine for the complete set of features in the Ghent criteria to identify all patients with MFS. The majority of persons with MFS might be identified by the combined assessment of dura mater and family history, supplemented with DNA analysis in familynegative cases. The low prevalence of ascending aortic disease might indicate better future prospects in an adult population than those traditionally considered.

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Section: Ghent Evaluation Of 105 Norwegian Adults S Rand-hendriksen Esupporting

confidence: 61%

“…23,24 The involvement of skin and integument is comparable with the highest prevalence published. 23,27,44 Spontaneous pneumothorax has been rare in our cohort, whereas blebs in the lungs were found more often. 45 This can partially be explained by different imaging techniques.…”

Section: Ghent Evaluation Of 105 Norwegian Adults S Rand-hendriksen Esupporting

confidence: 61%

Prevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndrome

et al. 2009

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“…Manifest osteoporosis may be more frequent than in the general populations, as some studies describe an increased prevalence of decreased bone mineral density. Marked abnormalities in the pelvic values compared with those found in the unaffected population, with increased retroversion of the pelvis, in particular, were found in one study [293].…”

Section: Craniofacial Featuresmentioning

confidence: 79%

Features of Marfan syndrome not listed in the Ghent nosology – the dark side of the disease

Kodolitsch

Demolder

Girdauskas

et al. 2019

Expert Review of Cardiovascular Therapy

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Introduction: The revised Ghent nosology presents the classical features of Marfan syndrome. However, behind its familiar face, Marfan syndrome hides less well-known features. Areas covered: The German Marfan Organization listed unusual symptoms and clinical experts reviewed the literature on clinical features of Marfan syndrome not listed in the Ghent nosology. Thereby we identified the following features: (1) bicuspid aortic valve, mitral valve prolapse, pulmonary valve prolapse, tricuspid valve prolapse, (2) heart failure and cardiomyopathy, (3) supraventricular arrhythmia, ventricular arrhythmia, and abnormal repolarization, (4) spontaneous coronary artery dissection, anomalous coronary arteries, and atherosclerotic coronary artery disease, tortuosity-, aneurysm-, and dissection of large and medium-sized arteries, (5) restrictive lung disease, parenchymal lung disease, and airway disorders, (6) obstructive-and central sleep apnea, (7) liver and kidney cysts, biliary tract disease, diaphragmatic hernia, and adiposity, (8) premature labor, and urinary incontinence, (9) myopathy, reduced bone mineral density, and craniofacial manifestations, (10) atrophic scars, (11) caries, and craniomandibular dysfunction, (12) headache from migraine and spontaneous cerebrospinal fluid leakage, (13) cognitive dysfunction, schizophrenia, depression, fatigue, and pain, (14) and activated fibrinolysis, thrombin, platelets, acquired von Willebrand disease, and platelet dysfunction. Expert commentary: Future research, nosologies, and guidelines may consider less well-known features of Marfan syndrome. ARTICLE HISTORY

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“…Thoracolumbar kyphosis may also be a spinal manifestation and also scores one point. Scoliosis affects more than 50% of MFS patients, as defined using the Cobb method that considers an angle of > 10° significant [ 75 , 76 ]. However, the 2010 Ghent nosology suggests that scoliosis in MFS should be defined as an angle of > 20° to increase specificity.…”

Section: Scoliosis and Spinal Deformitymentioning

confidence: 99%

The Musculoskeletal Manifestations of Marfan Syndrome: Diagnosis, Impact, and Management

et al. 2021

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Purpose of Review Marfan syndrome (MFS) is an autosomal dominant heritable disorder of fibrillin-1 (FBN1) with predominantly ocular, cardiovascular, and musculoskeletal manifestations that has a population prevalence of approximately 1 in 5–10,000 (Chiu et al. Mayo Clin Proc. 89(1):34–42, 146, Dietz 3, Loeys et al. J Med Genet. 47(7):476–85, 4). Recent Findings The vascular complications of MFS still pose the greatest threat, but effective management options, such as regular cardiac monitoring and elective surgical intervention, have reduced the risk of life-threatening cardiovascular events, such as aortic dissection. Although cardiovascular morbidity and mortality remains high, these improvements in cardiovascular management have extended the life expectancy of those with MFS by perhaps 30–50 years from an estimated mean of 32 years in 1972 (Dietz 3, Gott et al. Eur J Cardio-thoracic Surg. 10(3):149–58, 147, Murdoch et al. N Engl J Med. 286(15):804–8, 148). The musculoskeletal manifestations of MFS, which to date have received less attention, can also have a significant impact on the quality of life and are likely to become more important as the age of the Marfan syndrome population increases (Hasan et al. Int J Clin Pract. 61(8):1308–1320, 127). In addition, musculoskeletal manifestations are often critically important in the diagnosis of MFS. Summary Here, we review the main clinically relevant and diagnostically useful musculoskeletal features of MFS, which together contribute to the “systemic features score” (referred to hereafter as systemic score), part of the revised Ghent nosology for MFS. We discuss current treatment strategies and highlight the need for a multidisciplinary approach to diagnosis and management. Finally, we review new pharmacological approaches that may be disease modifying and could help to improve the outcome for individuals with this syndrome.

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Spinal and pelvic parameters in Marfan’s syndrome and their relevance to surgical planning

Cited by 13 publications

References 12 publications

Prevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndrome

Prevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndrome

Features of Marfan syndrome not listed in the Ghent nosology – the dark side of the disease

The Musculoskeletal Manifestations of Marfan Syndrome: Diagnosis, Impact, and Management

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