title: Electrocardiographic signs of hypertrophy in fabry disease-associated hypertrophic cardiomyopathy.
abstract: OBJECTIVE
  Fabry disease results from deficient activity of the lysosomal enzyme alpha-galactosidase A. Progressive accumulation of the major substrates leads, in both men and women, to progressive hypertrophic cardiomyopathy. We aimed to evaluate the utility of different electrocardiographic (ECG) parameters for assessing the degree and severity of hypertrophic cardiomyopathy in patients with Fabry disease.
  
  
  METHODS
  A total of 166 ECGs of 94 hemi- and heterozygous patients with Fabry disease were analysed and compared with echocardiographic-estimated left ventricular mass (LVM).
  
  
  RESULTS
  There was a significant (p < 0.0001) correlation between QRS duration (R2 = 0.59), 12-lead amplitude/duration product (R2 = 0.61), Sokolow-Lyon voltage/duration product (R2 = 0.52) and LVM. Analysis of receiver operating characteristics revealed that the 12-lead amplitude/duration product had the highest sensitivity-specificity relationship (p < 0.01 compared with the Cornell index).
  
  
  CONCLUSIONS
  In general, ECG signs of left ventricular hypertrophy correlated well with LVM as revealed by echocardiography. Of the parameters studied, the 12-lead amplitude/duration product was the most successful at describing the severity of cardiac involvement in Fabry disease. These data suggest that ECG parameters have potential for use as a simple and cost-effective means of screening for hypertrophic cardiomyopathy in patients with Fabry disease.
authors.affiliation: University Children's Hospital, Mainz, Germany. christoph.kampmann@uni-mainz.de
authors.forename: C
authors.initials: C
authors.lastname: Kampmann
authors.forename: C M
authors.initials: CM
authors.lastname: Wiethoff
authors.forename: C
authors.initials: C
authors.lastname: Martin
authors.forename: A
authors.initials: A
authors.lastname: Wenzel
authors.forename: R
authors.initials: R
authors.lastname: Kampmann
authors.forename: C
authors.initials: C
authors.lastname: Whybra
authors.forename: E
authors.initials: E
authors.lastname: Miebach
authors.forename: M
authors.initials: M
authors.lastname: Beck
mesh_terms: D000293:Adolescent; D000328:Adult; D002312:Cardiomyopathy, Hypertrophic / Q000209:etiology* / Q000503:physiopathology*; D002648:Child; D004562:Electrocardiography; D000795:Fabry Disease / Q000150:complications* / Q000503:physiopathology*; D005260:Female; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000209:etiology* / Q000503:physiopathology*; D008297:Male; D008875:Middle Aged; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D012720:Severity of Illness Index