title: Loss of base-to-apex circumferential strain gradient: A specific pattern of Fabry cardiomyopathy?
abstract: OBJECTIVE
  Cardiac manifestations in Fabry disease are mainly characterized by left ventricular hypertrophy (LVH). The aims of this study were (1) to describe the pattern of regional strain in patients with Fabry disease and (2) to assess whether this pattern may help differentiate patients with Fabry disease from patients with sarcomeric hypertrophic cardiomyopathy (HCM).
  
  
  METHODS
  Seventy-seven subjects were investigated: patients with Fabry disease (n=37; 57% with LVH), patients with HCM (n=21), and healthy controls (n=19). Global and segmental longitudinal and circumferential strain (CS) analyses were performed by two-dimensional speckle strain imaging. Base-to-apex longitudinal and CS gradient, defined as the peak gradient difference between averaged basal and apical strain, was calculated.
  
  
  RESULTS
  Longitudinal strain gradient did not differ between controls and Fabry patients without hypertrophy (respectively: -10±3.2 vs -8±4.3, P=.41) or between the HCM group and Fabry patients with hypertrophy (respectively: -7.5±4.5 vs -9±4.5, P=.37). The CS gradient was lower in Fabry patients without hypertrophy compared to the controls (respectively: 1±8 vs 14.2±9.5, P<.01), and lower in Fabry patients with hypertrophy compared to the HCM group (respectively: 0.5±8 vs 6±9, P<.01). Base-to-apex CS gradient was lost in both Fabry groups.
  
  
  CONCLUSIONS
  Loss of base-to-apex CS gradient may be a specific left ventricular deformation pattern of Fabry cardiomyopathy in patients with and without LVH.
authors.affiliation: Department of Cardiology, Caen CHU, Caen, France.
authors.forename: Fabien
authors.identifier: http://orcid.org/0000-0003-4435-4401
authors.initials: F
authors.lastname: Labombarda
authors.affiliation: Department of Cardiology, Caen CHU, Caen, France.
authors.forename: Eric
authors.initials: E
authors.lastname: Saloux
authors.affiliation: Department of Cardiology, Caen CHU, Caen, France.
authors.forename: Guillaume
authors.initials: G
authors.lastname: Milesi
authors.affiliation: Department of Internal Medicine, Caen CHU, Caen, France.
authors.forename: Boris
authors.initials: B
authors.lastname: Bienvenu
mesh_terms: D000328:Adult; D002312:Cardiomyopathy, Hypertrophic / Q000000981:diagnostic imaging; D003430:Cross-Sectional Studies; D003937:Diagnosis, Differential; D004452:Echocardiography / Q000379:methods*; D000795:Fabry Disease / Q000150:complications* / Q000503:physiopathology; D005260:Female; D006352:Heart Ventricles / Q000000981:diagnostic imaging / Q000503:physiopathology; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000150:complications* / Q000000981:diagnostic imaging* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D015203:Reproducibility of Results
keywords: Fabry disease; circumferential strain; hypertrophic cardiomyopathy