Analysis of left ventricular mass in untreated men and in men treated with agalsidase-β: Data from the Fabry Registry

Dominique P. Germain*, Frank Weidemann, Ademola Abiose, Manesh R. Patel, Marta Cizmarik, J. Alexander Cole, Dana Beitner-Johnson, Karelle Benistan, Gustavo Cabrera, Joel Charrow, Ilkka Kantola, Ales Linhart, Kathy Nicholls, Markus Niemann, C. Ronald Scott, Katherine Sims, Stephen Waldek, David G. Warnock, Jörg Strotmann

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

70 Scopus citations


Purpose:The aim of this study was to evaluate the progression of left ventricular hypertrophy in untreated men with Fabry disease and to assess the effects of agalsidase-β (recombinant human α-galactosidase A) on left ventricular hypertrophy.Methods:Longitudinal Fabry Registry data were analyzed from 115 men treated with agalsidase-β (1 mg/kg/2 weeks) and 48 untreated men. Measurements included baseline left-ventricular mass and at least one additional left-ventricular mass assessment over ≥2 years. Patients were grouped into quartiles, based on left-ventricular mass slopes. Multivariate logistic regression analyses identified factors associated with left ventricular hypertrophy progression.Results:For men in whom treatment was initiated at the age of 18 to <30 years, mean left ventricular mass slope was -3.6 g/year (n = 31) compared with +9.5 g/year in untreated men of that age (n = 15) (P < 0.0001). Untreated men had a 3.4-fold higher risk of having faster increases in left-ventricular mass compared with treated men (odds ratio: 3.43; 95% confidence interval: 1.05-11.22; P = 0.0415). A baseline age of ≥40 years was also associated with left-ventricular hypertrophy progression (odds ratio: 5.03; 95% confidence interval: 1.03-24.49; P = 0.0457) compared with men younger than 30 years.Conclusion:Agalsidase-β treatment for ≥2 years may improve or stabilize left-ventricular mass in men with Fabry disease. Further investigations may determine whether early intervention and stabilization of LVM are correlated with clinical outcomes.

Original languageEnglish (US)
Pages (from-to)958-965
Number of pages8
JournalGenetics in Medicine
Issue number12
StatePublished - Dec 2013


  • Fabry disease
  • cardiomyopathy
  • enzyme replacement therapy
  • lysosomal storage diseases
  • recombinant a-galactosidase A

ASJC Scopus subject areas

  • Genetics(clinical)


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