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Prevalence of Anderson–Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson–Fabry Disease Survey
  1. Perry Elliott1,
  2. Robert Baker2,
  3. Ferdinando Pasquale1,
  4. Giovanni Quarta1,
  5. Hatim Ebrahim2,
  6. Atul B Mehta2,
  7. Derralynn A Hughes2 on behalf of the ACES study group*
  1. 1The Heart Hospital, University College London, London, UK
  2. 2Department of Haematology, The Lysosomal Storage Diseases Unit, University College London, London, UK
  1. Correspondence to Dr Perry Elliott, The Heart Hospital, 16–18 Westmoreland Street, London W1G 8PH, UK; perry.elliott{at}


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%.

  • Acute myocardial infarction
  • α-galactosidase A gene
  • Anderson–Fabry disease
  • aortic stenosis
  • aortic valve disease
  • arrhythmic right ventricular dyplasia
  • cardiomyopathy
  • cardiomyopathy apical
  • cardiomyopathy dilated
  • cardiomyopathy restrictive
  • channelopathy
  • congenital heart disease
  • contrast echocardiography
  • coronary angioplasty
  • coronary artery disease
  • echocardiography
  • gene association
  • gene expression
  • genetics
  • haematology
  • heart failure
  • heart muscle disease
  • hypertrophic cardiomyopathy
  • inherited cardiac diseases
  • interventional cardiology
  • invasive cardiology
  • magnetic resonance imaging
  • MRI
  • myocardial disease
  • myocardial function
  • paediatric cardiology
  • sport
  • stress echocardiography
  • sudden cardiac death
  • tissue characterisation
  • torsade de pointes
  • 12-lead ECG

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  • * Members of the ACES study group are listed in appendix 1.

  • Funding GQ is supported by a PhD fellowship from the University ‘La Sapienza’ of Rome, by a European Society of Cardiology research fellowship and by InGenious Hypercare. TH and JK have received grants from the Finnish Medical Foundation, Finnish Foundation for Cardiovascular Research and the special governmental subsidy for the health sciences (TYH 2009121). XF receives funding from the Spanish Cardiovascular Research Network–RECAVA (Instituto de Salud Carlos III, Madrid). YMP has received educational grants from Shire HGT. YMP, AAMW and IC have received grants from ZonMw (grant no 62000010) and The Netherlands Heart Foundation (grant no 2003 D302). Some of this work was undertaken at UCLH/UCL who received a proportion of funding from the Department of Health's NIHR Biomedical Research Centres funding scheme. This is an investigator-sponsored study. It was financially supported by an unrestricted educational grant from Shire HGT. The funder played no role in the design or conduct of the study.

  • Competing interests PE has received speaker and consultancy fees from Shire HGT. ABM has received speaker and consultancy fees, travel and research grants from Shire HGT, Amicus Inc. and Genzyme Inc. DAH has received speaker and consultancy fees, travel and research grants from Shire HGT, Amicus Inc. and Genzyme Inc. GQ has received travel grants from Shire HGT.

  • Patient consent Obtained.

  • Ethics approval All participating centres obtained local ethical approval for the study.

  • Provenance and peer review Not commissioned; externally peer reviewed.