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

Abstract

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:

• Veldhoen S, Stark V, Mueller GC et al. Pediatric Patients with Marfan Syndrome: Frequency of Dural Ectasia and its Correlation with Common Cardiovascular Manifestations. Fortschr Röntgenstr 2014; 186: 61 – 66

Zusammenfassung

Einleitung: Das Marfan-Syndrom (MFS) ist eine genetische Erkrankung des Bindegewebes. Die Aortenwurzel-Dilatation ist ein Hauptkriterium der Gent-Nosologie. Die Duraektasie und der Mitralklappenprolaps (MVP) tragen zu einem systemischen Score der Nosologie bei. An einem rein pädiatrischen Patientenkollektiv wird die Prävalenz der Duraektasie ermittelt und auf Korrelationen zu kardiovaskulären Manifestationen hin untersucht.

Material und Methoden: Von 119 pädiatrischen Patienten, die die lokale Marfan-Sprechstunde konsultierten, konnten wir 31 MFS-Betroffene einschließen, die eine MRT zum Ausschluss einer Duraektasie erhalten hatten. Jeder Patient wurde entsprechend der Gent-Nosologie untersucht. Zur Vermessung der Aortenwurzel und zur Detektion des MVP sowie der Mitrainsuffizienz wurde die Echokardiografie verwendet. Für die Bewertung der Diameter der Aortenwurzel wurden z-scores berechnet. Per MRT wurde die Duralsackratio (DSR) bestimmt.

Ergebnisse: Die Prävalenz der Duraektasie lag bei 90,3 %, der Aortenwurzeldilatation (z-score ≥ 2) bei 32,2 %, des MVP bei 64,5 % und der Mitralinsuffizienz bei 51,6 %. Die DSR von L5 zeigte eine Korrelation zu den intraindividuellen z-scores (Regressionskoeffizient 3,62 ± 1,5 [0,56; 6,68]; r = 0,17; p = 0,02; F = 5,84). Z-scores ≥ 2 gingen in 100 % mit einer Duraektasie einher, MVP in 95 % und die Mitralinsuffizienz in 100 %. Der MVP zeigte in 70 % eine zusätzliche Mitralinsuffizienz.

Zusammenfassung: Da die untersuchten kardialen Manifestationen in 95 – 100 % eine Koinzidenz mit der Duraektasie zeigen, sollte die MRT zur rein diagnostischen Bildgebung des Duralsackes für Verdachtsfälle vorbehalten bleiben, in denen keine kardialen Manifestationen nachweisbar sind, um die Diagnose anhand der Gent-Nosologie zu etablieren. Daher bestätigt diese Studie die Herabstufung der Duraektasie durch die letzte Überarbeitung der Gent-Nosologie.

Key Points

• The prevalence of dural ectasia in children with MFS amounts to 90 %.

• Aortic root dilation, mitral valve prolapse and mitral regurgitation show a coincidence with dural ectasia in 95 % – 100 % of children with MFS.

• MRI for diagnostic dural sac imaging should be reserved for pediatric MFS suspicions with absence of aortic root dilation, mitral valve prolapse and mitral regurgitation.

Key words

aorta - cardiac - genetic defects - echocardiography - MR imaging - connective tissue disorders

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