| Contributors: |
Elliott, P; Baker, R; Pasquale, F; Quarta, G; Ebrahim, H; Mehta, Ab; Hughes, Da; ACES study, Group; Anastasakis, A; Autore, C; Musumeci, Mb; Frenneaux, M; Gimeno, J; Tiina, H; Kuusisto, J; Aalto-Setäla, K; Mckeown, P; Monserrat, L; Fernandez, X; Pacileo, G; Limongelli, G; Rapezzi, C; Biagini, E; Cate, Fj; Wilde, Aa; Pinto, Ym; Christiaans, I; Zachara, E. |
| Description: |
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%. |