Dural ectasia in children with Marfan syndrome: A prospective, multicenter, patient‐control study

Knirsch, Walter; Kurtz, Claudia; Häffner, Nicole; Binz, Gudrun; Heim, Peter; Winkler, Peter; Baumgartner, Daniela; Freund-Unsinn, Karin; Stern, Heiko; Kaemmerer, Harald; Molinari, Luciano; Kececioglu, Deniz; Uhlemann, Frank

doi:10.1002/ajmg.a.31158

Cited by 40 publications

(28 citation statements)

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“…To our knowledge, no studies have investigated correlations between dural ectasia and cardiovascular manifestations within a pediatric patient population. The high prevalence of lumbosacral dural ectasia in MFS patients has been known for years and is again confirmed by the present study that showed a pathologic DSR in 90.3 % of the children [24]. The present study revealed no linear dependence between the dural sac ratio at spine segments L5 and S1 and the absolute diameter of the aortic root at the sinuses of Valsalva in pediatric patients with confirmed MFS.…”

supporting

confidence: 87%

Pediatric Patients with Marfan Syndrome: Frequency of Dural Ectasia and its Correlation with Common Cardiovascular Manifestations

Veldhoen

Stark

Mueller

et al. 2013

Fortschr Röntgenstr

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Purpose: Marfan syndrome (MFS) is a genetic disorder of the connective tissue. Aortic root dilation is a main criterion of the Ghent Nosology. Dural ectasia and the presence of mitral valve prolapse (MVP) contribute to its systemic score. The purpose of this study was to investigate the frequency of dural ectasia and its correlation with cardiovascular manifestations in a pediatric study population. Patients and methods: 119 pediatric patients with confirmed or suspected MFS were examined in the local Marfan Clinic. 31 children with MFS who underwent magnetic resonance imaging (MRI) were included. Each patient was evaluated according to the Ghent nosology. Echocardiography was used to measure the aortic root diameter and assess the presence of MVP and mitral regurgitation. Z-scores were calculated for the evaluation of the aortic root diameters. MRI was performed to determine the dural sac ratio (DSR). Results: The prevalence of dural ectasia was 90.3?%, of aortic root dilation 32.2?%, of MVP 64.5?% and of mitral regurgitation 51.6?%. DSR at L5 correlated with the intraindividual z-scores (slope, 3.62???1.5 [0.56; 6.68]; r?=?0.17; p?=?0.02; F?=?5.84). Z-scores ??2 were accompanied by dural ectasia in 100?%, MVP in 95?% and mitral regurgitation in 100?% of cases. MVP was accompanied by mitral regurgitation in 70?% of cases. Conclusion: As the examined cardiac manifestations show a coincidence with dural ectasia in 95???100?% of cases, MRI for diagnostic dural sac imaging should be reserved for MFS suspicions with the absence of those manifestations in order to establish the diagnosis according to the Ghent criteria. Thus, the present study supports the recent downgrading of dural ectasia to a contributor to the systemic score. Citation Format:

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supporting

confidence: 87%

Pediatric Patients with Marfan Syndrome: Frequency of Dural Ectasia and its Correlation with Common Cardiovascular Manifestations

Veldhoen

Stark

Mueller

et al. 2013

Fortschr Röntgenstr

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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: 58%

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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“…It is important to check for aortic dissection, which may be small and focal [35]. MRI of the lumbosacral spine may be used to identify dural ectasia [36].…”

Section: Marfan Syndromementioning

confidence: 99%

Imaging congenital heart disease in adults

Kilner¹

2011

BJR

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ABSTRACT. Transthoracic echocardiography is the first-line modality for cardiovascular imaging in adults with congenital heart disease (ACHD). The windows of access that are possible with transthoracic echocardiography are, however, rarely adequate for all regions of interest. The choice of further imaging depends on the clinical questions that remain to be addressed. The strengths of MRI include comprehensive access and coverage, providing imaging of all parts of the right ventricle, the pulmonary arteries, pulmonary veins and aorta. Cine images and velocity maps are acquired in specifically aligned planes, with stacks of cines or dynamic contrast angiography providing more comprehensive coverage. Tissues can be characterised if necessary, and MRI provides relatively accurate measurements of biventricular function and volume flow. These parameters are important in the assessment and follow-up of adults after repairs for tetralogy of Fallot or transposition of the great arteries and after Fontan operations. The superior spatial resolution and rapid acquisition of CT are invaluable in selected situations, including the visualisation of anomalous coronary or aortopulmonary collateral arteries, the assessment of luminal patency after stenting and imaging in patients with pacemakers. Ionising radiation is, however, a concern in younger patients who may need repeated investigation. Adults with relatively complex conditions should ideally be imaged in a specialist ACHD centre, where dedicated echocardiographic and cardiovascular MRI services are a necessary facility. General radiologists should be aware of the nature and pathophysiology of congenital heart disease, and should be alert for previously undiagnosed cases presenting in adulthood, including cases of atrial septal defect, aortic coarctation, patent ductus arteriosus, double-chambered right ventricle and congenitally corrected transposition.

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Dural ectasia in children with Marfan syndrome: A prospective, multicenter, patient‐control study

Abstract: Even during childhood pathologic changes inside the lumbosacral spine of patients with Marfan syndrome can be observed. Dural ectasia, which occurs at different levels of the lumbar spine, can be detected at levels L5 and S1 in up to 40% of patients with Marfan syndrome.

Cited by 40 publications

References 20 publications

Pediatric Patients with Marfan Syndrome: Frequency of Dural Ectasia and its Correlation with Common Cardiovascular Manifestations

Pediatric Patients with Marfan Syndrome: Frequency of Dural Ectasia and its Correlation with Common Cardiovascular Manifestations

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

Imaging congenital heart disease in adults

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