Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry Disease survey

Heart. 2011 Dec;97(23):1957-60. doi: 10.1136/heartjnl-2011-300364. Epub 2011 Sep 2.


Objectives: The prevalence of Anderson-Fabry disease (AFD) in patients presenting with unexplained left ventricular hypertrophy (LVH) is controversial. The aim of this study was to determine the prevalence of AFD in a large, consecutive cohort of patients with hypertrophic cardiomyopathy (HCM) using rapid mutation screening.

Design, setting and patients: A European multicentre cross-sectional study involving 13 referral centres. Inclusion criteria for the study were: men aged at least 35 years and women aged at least 40 years with unexplained LVH (maximum left ventricular wall thickness ≥ 1.5 cm). All patients were screened using a denaturing high-performance liquid chromatography protocol for rapid mutation screening of the α-galactosidase A (α-Gal A) gene and, if a sequence variant was found, direct sequencing was performed. 1386 patients (63.9% men, mean age 57.9 ± 12.0 years) were enrolled in the study.

Results: Seven (0.5%) patients (age 57.4 ± 9.0 years (45-72); three (43%) men) had pathogenic α-galactosidase A mutations. Polymorphisms were identified in 283 patients (20.4%). Maximal left ventricular wall thickness in patients carrying a disease-causing mutation was 18 ± 2 mm (range 15-22); four patients had concentric LVH and the remainder had asymmetric septal hypertrophy.

Conclusions: The prevalence of AFD gene mutations in a large, consecutive cohort of European patients with unexplained LVH is 0.5%.

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Cardiomyopathy, Hypertrophic / epidemiology*
  • Cardiomyopathy, Hypertrophic / genetics
  • Cross-Sectional Studies
  • Europe / epidemiology
  • Fabry Disease / epidemiology*
  • Fabry Disease / genetics
  • Female
  • Genetic Testing
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics
  • Prevalence
  • alpha-Galactosidase / genetics


  • alpha-Galactosidase