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Prevalence of Anderson–Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson–Fabry Disease Survey


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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