title: Early left ventricular abnormalities in children with heterozygous familial hypercholesterolemia.
abstract: BACKGROUND
  Few data are available on cardiac morphology and function in children with heterozygous familial hypercholesterolemia (FH). Such patients represent a unique clinical model to assess the effect of pure hypercholesterolemia on cardiac morphology and function, excluding the effect of comorbidities. Speckle-tracking echocardiography, a relatively new echocardiographic modality, allows the assessment of myocardial deformation properties. The aim of this study was to define in children with FH the preclinical effects of isolated hypercholesterolemia on the cardiovascular system by examining left ventricular (LV) function using speckle-tracking echocardiography.
  
  
  METHODS
  Ninety children (45 with FH and 45 controls; mean age, 11 ± 3 years) were prospectively studied.
  
  
  RESULTS
  Children with FH showed thicker LV walls and significantly higher LV mass indexed for height(2.7) (P = .0008) and for body surface area (P < .0001). LV ejection fractions were similar in both groups. Assessment of diastolic function demonstrated longer deceleration times (P < .0001), reduced early diastolic mitral annular velocities (P < .0001), and higher transmitral early/early diastolic mitral annular velocity ratios (P = .0003) in children with FH. Longitudinal and circumferential myocardial deformation of the left ventricle were significantly reduced (P < .0001) whereas radial deformation was increased in children with FH (P = .04) compared with controls.
  
  
  CONCLUSIONS
  This study demonstrates that hypercholesterolemia is associated with significant LV morphologic and functional alterations during childhood. The findings also suggest that reductions in longitudinal and circumferential deformation are compensated for by increasing radial strain in children with FH with normal LV ejection fractions. This study raises the questions of the clinical importance of these findings and the opportunity for cholesterol-lowering therapy. The potential benefits and risks of such treatment at a young age need to be addressed in larger long-term studies.
authors.affiliation: Second University of Naples, Monaldi Hospital, Via Omodeo 45, Naples, Italy. giodisal@yahoo.it
authors.forename: Giovanni
authors.initials: G
authors.lastname: Di Salvo
authors.forename: Angelo Fabio
authors.initials: AF
authors.lastname: D'Aiello
authors.forename: Biagio
authors.initials: B
authors.lastname: Castaldi
authors.forename: Bahaa
authors.initials: B
authors.lastname: Fadel
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Limongelli
authors.forename: Antonello
authors.initials: A
authors.lastname: D'Andrea
authors.forename: Valeria
authors.initials: V
authors.lastname: Pergola
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Pacileo
authors.forename: Emanuele Miraglia
authors.initials: EM
authors.lastname: Del Giudice
authors.forename: Laura
authors.initials: L
authors.lastname: Perrone
authors.forename: Raffaele
authors.initials: R
authors.lastname: Calabrò
authors.forename: Maria Giovanna
authors.initials: MG
authors.lastname: Russo
mesh_terms: D000465:Algorithms; D002648:Child; D004452:Echocardiography / Q000379:methods*; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications* / Q000000981:diagnostic imaging*; D007089:Image Enhancement / Q000379:methods; D007090:Image Interpretation, Computer-Assisted / Q000379:methods*; D008297:Male; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D018487:Ventricular Dysfunction, Left / Q000000981:diagnostic imaging* / Q000209:etiology*