title: Dural ectasia in Loeys-Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation.
abstract: The purpose of this study was to assess the frequency, severity, and clinical associations of dural ectasia (DE) in Loeys-Dietz syndrome (LDS). Database analysis of three German metropolitan regions identified 30 patients with LDS and TGFBR1 mutation in 6 and a TGFBR2 mutation in 24 individuals (17 men; mean age: 31 ± 19 years), as well as 60 age and sex-matched control patients with Marfan syndrome carrying a FBN1 mutation. DE was present in 22 patients with LDS (73%), and it related to skeletal score points (p = 0.008), non-skeletal score points (p < 0.001), and to the presence of ≥7 systemic score points (p = 0.010). Similarly, the severity of DE was related to body height (p = 0.010) and non-skeletal score points (p = 0.004). Frequency (p = 0.131) and severity of DE (p = 0.567) was similar in LDS and Marfan syndrome. DE is a manifestation of LDS that occurs with similar frequency and severity as in Marfan syndrome. Severity of DE may serve as a marker of the overall connective tissue disease severity. LDS may be considered in patients with DE.
authors.affiliation: Centre of Cardiology and Cardiovascular Surgery, Department of Cardiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Sheikhzadeh
authors.forename: L
authors.initials: L
authors.lastname: Brockstaedt
authors.forename: C R
authors.initials: CR
authors.lastname: Habermann
authors.forename: C
authors.initials: C
authors.lastname: Sondermann
authors.forename: P
authors.initials: P
authors.lastname: Bannas
authors.forename: T S
authors.initials: TS
authors.lastname: Mir
authors.forename: A
authors.initials: A
authors.lastname: Staebler
authors.forename: H
authors.initials: H
authors.lastname: Seidel
authors.forename: B
authors.initials: B
authors.lastname: Keyser
authors.forename: M
authors.initials: M
authors.lastname: Arslan-Kirchner
authors.forename: K
authors.initials: K
authors.lastname: Kutsche
authors.forename: J
authors.initials: J
authors.lastname: Berger
authors.forename: S
authors.initials: S
authors.lastname: Blankenberg
authors.forename: Y
authors.initials: Y
authors.lastname: von Kodolitsch
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001827:Body Height; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004108:Dilatation, Pathologic / Q000235:genetics*; D005260:Female; D006801:Humans; D055947:Loeys-Dietz Syndrome / Q000235:genetics* / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics / Q000503:physiopathology; D008875:Middle Aged; D009154:Mutation; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D000077293:Receptor, Transforming Growth Factor-beta Type I; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*; D055815:Young Adult
chemical_list: D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077293:Receptor, Transforming Growth Factor-beta Type I; D000077294:Receptor, Transforming Growth Factor-beta Type II; C000625841:TGFBR1 protein, human
keywords: Loeys-Dietz syndrome; Marfan syndrome; TGFBR1; TGFBR2; dural ectasia