title: Myocardial deformation in pediatric patients with mucopolysaccharidoses: A two-dimensional speckle tracking echocardiography study.
abstract: BACKGROUND
  Mucopolysaccharidoses (MPS) are inherited lysosomal storage disorders caused by deficiency of required glycosaminoglycans breakdown enzymes, inducing cardiac involvement. Little is known about myocardial deformation involvement in MPS. Our aim was to assess biventricular structure and function in asymptomatic children with MPS using standard echo Doppler and 2D speckle tracking (STE).
  
  
  METHODS
  Fifteen MPS children (one type I, six type II, three type III A, one III B, three IV A, one VI), asymptomatic for cardiac symptoms, and 15 age and sex-matched healthy controls underwent echo Doppler and STE. Left ventricular (LV) wall thicknesses, diameters, and mass were normalized by z-score. LV global longitudinal strain (GLS), global circumferential strain (GCS), global radial strain (GRS) at papillary muscles, LV twisting, and right ventricular (RV) GLS were measured.
  
  
  RESULTS
  The two groups were comparable for body mass index, heart rate, and blood pressure. LV mass index and relative wall thickness were higher in MPS. Ejection fraction (EF), and s' velocity did not differ between the two groups. E/A ratio was lower and E/e' higher in MPS. Tricuspid annular plane systolic excursion, RV s' and e' were lower in MPS. LV GLS did not differ between the two groups, but GCS (P=.014), GRS (P=.023), twisting (P=.012), and RV GLS (P<.001) were lower in the MPS group.
  
  
  CONCLUSIONS
  LV strain abnormalities are detectable in MPS pediatric patients, independently of MPS type, when EF is still normal. RV GLS is also involved consensually with TAPSE reduction. STE can be useful for detection of subclinical myocardial damage in MPS.
authors.affiliation: Department Advanced Biomedical Sciences, Federico II University Hospital, Naples, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Borgia
authors.affiliation: Department Advanced Biomedical Sciences, Federico II University Hospital, Naples, Italy.
authors.forename: Enrica
authors.initials: E
authors.lastname: Pezzullo
authors.affiliation: Department Advanced Biomedical Sciences, Federico II University Hospital, Naples, Italy.
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Schiano Lomoriello
authors.affiliation: Department Advanced Biomedical Sciences, Federico II University Hospital, Naples, Italy.
authors.forename: Regina
authors.initials: R
authors.lastname: Sorrentino
authors.affiliation: Department Advanced Biomedical Sciences, Federico II University Hospital, Naples, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Lo Iudice
authors.affiliation: Department Advanced Biomedical Sciences, Federico II University Hospital, Naples, Italy.
authors.forename: Sara
authors.initials: S
authors.lastname: Cocozza
authors.affiliation: Department of Translational Medical Sciences, Federico II University Hospital, Naples, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Della Casa
authors.affiliation: Department of Translational Medical Sciences, Federico II University Hospital, Naples, Italy.
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Parenti
authors.affiliation: Department of Translational Medical Sciences, Federico II University Hospital, Naples, Italy.
authors.forename: Pietro
authors.initials: P
authors.lastname: Strisciuglio
authors.affiliation: Department Advanced Biomedical Sciences, Federico II University Hospital, Naples, Italy.
authors.forename: Bruno
authors.initials: B
authors.lastname: Trimarco
authors.affiliation: Department Advanced Biomedical Sciences, Federico II University Hospital, Naples, Italy.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Galderisi
mesh_terms: D002648:Child; D004452:Echocardiography; D015150:Echocardiography, Doppler; D005260:Female; D006352:Heart Ventricles / Q000000981:diagnostic imaging / Q000503:physiopathology; D006801:Humans; D008297:Male; D009083:Mucopolysaccharidoses / Q000150:complications* / Q000503:physiopathology; D015203:Reproducibility of Results; D018754:Ventricular Dysfunction / Q000150:complications* / Q000000981:diagnostic imaging*
keywords: echocardiography; mucopolysaccharidoses; right ventricle; speckle tracking; strain imaging