title: Marfan syndrome associated aortic disease in neonates and children: a clinical-morphologic review.
abstract: BACKGROUND
  Marfan syndrome (MFS) is a multisystem connective tissue disorder that can lead to aortic dilation requiring aortic root replacement. Neonatal MFS (nMFS) is a rare and severe form of MFS compared to classic MFS (cMFS). Aortic root histology in MFS is thought to demonstrate predominantly medial degeneration (MD) of a translamellar mucoid extracellular matrix accumulation (MEMA-T) vs. the intralamellar mucoid extracellular matrix accumulation (MEMA-I) seen in other aortopathies. The objective of this study was to describe the clinical and histopathologic features of nMFS and cMFS patients undergoing aortic root replacement.
  
  
  METHODS
  Children with MFS who underwent aortic root replacement between 2000 and 2012 at a single institution were included. Medical records including clinical details, aortic dimensions (Z scores), and histology including MD type were obtained. Statistics were descriptive with univariate analysis of age at surgery and type of MD.
  
  
  RESULTS
  Eleven patients, 3 (27%) with nMFS, were included. Root dilation at time of surgery was greater in nMFS compared to cMFS (Z=12.8 vs. 7.6, P=.005), and nMFS patients were younger at time of surgery (7.3 vs. 18.8 years, P=.002). Histology in the nMFS group demonstrated MEMA-I in one and no MD in two. In the cMFS group, there were three with MEMA-T, four with MEMA-I, and one with both types.
  
  
  CONCLUSIONS
  In summary, nMFS has earlier root dilation often in the absence of MD. Both forms of MD were present in our cohort, and there was no correlation between age at surgery and type of MD.
authors.affiliation: Division of Pediatric Cardiology, University of Utah Department of Pediatrics, Salt Lake City, UT 84113, USA.
authors.forename: Adam L
authors.initials: AL
authors.lastname: Ware
authors.affiliation: Division of Anatomic Pathology, University of Utah Department of Pathology, Salt Lake City, UT 84113, USA.
authors.forename: Dylan V
authors.initials: DV
authors.lastname: Miller
authors.affiliation: Division of Anatomic Pathology, University of Utah Department of Pathology, Salt Lake City, UT 84113, USA.
authors.forename: Lance K
authors.initials: LK
authors.lastname: Erickson
authors.affiliation: Division of Pediatric Cardiology, University of Utah Department of Pediatrics, Salt Lake City, UT 84113, USA. Electronic address: Shaji.Menon@imail.org.
authors.forename: Shaji C
authors.initials: SC
authors.lastname: Menon
mesh_terms: D000293:Adolescent; D001011:Aorta / Q000473:pathology*; D001018:Aortic Diseases / Q000209:etiology / Q000473:pathology*; D002648:Child; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000473:pathology; D008297:Male; D008382:Marfan Syndrome / Q000150:complications / Q000473:pathology*; D055815:Young Adult
keywords: Aorta; Aortopathy; Marfan syndrome; Medial degeneration; Mucoid extracellular matrix accumulation