RT Journal Article
SR Electronic
T1 Prevalence of Anderson–Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson–Fabry Disease Survey
JF Heart
JO Heart
FD BMJ Publishing Group Ltd and British Cardiovascular Society
SP 1957
OP 1960
DO 10.1136/heartjnl-2011-300364
VO 97
IS 23
A1 Perry Elliott
A1 Robert Baker
A1 Ferdinando Pasquale
A1 Giovanni Quarta
A1 Hatim Ebrahim
A1 Atul B Mehta
A1 Derralynn A Hughes
YR 2011
UL http://heart.bmj.com/content/97/23/1957.abstract
AB 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%.