title: Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry Disease survey.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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%.
authors: he Heart Hospital, University College London, London, UK. perry.elliott@ucl.ac.uk
authors: Perry
authors: P
authors: Elliott
authors: Robert
authors: R
authors: Baker
authors: Ferdinando
authors: F
authors: Pasquale
authors: Giovanni
authors: G
authors: Quarta
authors: Hatim
authors: H
authors: Ebrahim
authors: Atul B
authors: AB
authors: Mehta
authors: Derralynn A
authors: DA
authors: Hughes
mesh_terms: D000368:Aged; D002312:Cardiomyopathy, Hypertrophic / Q000453:epidemiology* / Q000235:genetics; D003430:Cross-Sectional Studies; D005060:Europe / Q000453:epidemiology; D000795:Fabry Disease / Q000453:epidemiology* / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D015995:Prevalence; D000519:alpha-Galactosidase / Q000235:genetics
chemical_list: D000519:alpha-Galactosidase