title: Aortic Root Dilatation in Mucopolysaccharidosis I-VII.
abstract: The prevalence of aortic root dilatation (ARD) in mucopolysaccharidosis (MPS) is not well documented. We investigated aortic root measurements in 34 MPS patients at the Children's Hospital of Orange County (CHOC). The diagnosis, treatment status, age, gender, height, weight and aortic root parameters (aortic valve annulus (AVA), sinuses of Valsalva (SoV), and sinotubular junction (STJ)) were extracted by retrospective chart review and echocardiographic measurements. Descriptive statistics, ANOVA, and paired post-hoct-tests were used to summarize the aortic dimensions. Exact binomial 95% confidence intervals (CIs) were constructed for ARD, defined as az-score greater than 2 at the SoV. The patient age ranged from 3.4-25.9 years (mean 13.3 ± 6.1), the height from 0.87-1.62 meters (mean 1.24 ± 0.21), and the weight from 14.1-84.5 kg (mean 34.4 ± 18.0). The prevalence of dilation at the AVA was 41% (14/34; 95% CI: 25%-59%); at the SoV was 35% (12/34; 95% CI: 20%-54%); and at the STJ was 30% (9/30; 95% CI: 15%-49%). The highest prevalence of ARD was in MPS IVa (87.5%). There was no significant difference between mean z-scores of MPS patients who received treatment with hematopoietic stem cell transplantation (HSCT) or enzyme replacement therapy (ERT) vs. untreated MPS patients at the AVA (z= 1.9 ± 2.5 vs.z= 1.5 ± 2.4;p= 0.62), SoV (z= 1.2 ± 1.6 vs.z= 1.3 ± 2.2;p= 0.79), or STJ (z= 1.0 ± 1.8 vs.z= 1.2 ± 1.6;p= 0.83). The prevalence of ARD was 35% in our cohort of MPS I-VII patients. Thus, we recommend screening for ARD on a routine basis in this patient population.
authors.affiliation: Department of Pediatrics, Children's Hospital of Orange County, Orange, CA 92868, USA. meena.bolourchi@gmail.com.|Department of Pediatrics, University of California-Irvine School of Medicine, Orange, CA 92868, USA. meena.bolourchi@gmail.com.
authors.forename: Meena
authors.initials: M
authors.lastname: Bolourchi
authors.affiliation: Department of Pediatrics, Children's Hospital of Orange County, Orange, CA 92868, USA. prenella@choc.org.|Department of Pediatrics, University of California-Irvine School of Medicine, Orange, CA 92868, USA. prenella@choc.org.|Pediatric Heart Institute, Children's Hospital of Orange County, Orange, CA 92868, USA. prenella@choc.org.
authors.forename: Pierangelo
authors.initials: P
authors.lastname: Renella
authors.affiliation: Department of Pediatrics, University of California-Irvine School of Medicine, Orange, CA 92868, USA. rawang@choc.org.|Division of Metabolic Disorders, Children's Hospital of Orange County, Orange, CA 92868, USA. rawang@choc.org.
authors.forename: Raymond Y
authors.initials: RY
authors.lastname: Wang
mesh_terms: D000293:Adolescent; D000328:Adult; D001011:Aorta / Q000378:metabolism / Q000473:pathology; D001018:Aortic Diseases / Q000175:diagnosis* / Q000188:drug therapy / Q000628:therapy; D002648:Child; D004108:Dilatation, Pathologic / Q000175:diagnosis* / Q000188:drug therapy / Q000628:therapy; D005260:Female; D006801:Humans; D008297:Male; D008059:Mucopolysaccharidosis I / Q000378:metabolism / Q000473:pathology*; D016532:Mucopolysaccharidosis II / Q000378:metabolism / Q000473:pathology*; D009084:Mucopolysaccharidosis III / Q000378:metabolism / Q000473:pathology*; D009085:Mucopolysaccharidosis IV / Q000378:metabolism / Q000473:pathology*; D009087:Mucopolysaccharidosis VI / Q000378:metabolism / Q000473:pathology*; D016538:Mucopolysaccharidosis VII / Q000378:metabolism / Q000473:pathology*; D012189:Retrospective Studies; D055815:Young Adult
keywords: aortic root dilatation; echocardiogram; enzyme replacement therapy; mucopolysaccharidosis; z-scores