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%.
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%.
Authors: W Terryn; R Vanholder; D Hemelsoet; B P Leroy; W Van Biesen; G De Schoenmakere; B Wuyts; K Claes; J De Backer; G De Paepe; A Fogo; M Praet; B Poppe Journal: JIMD Rep Date: 2012-07-29
Authors: Brendan N Putko; Kevin Wen; Richard B Thompson; John Mullen; Miriam Shanks; Haran Yogasundaram; Consolato Sergi; Gavin Y Oudit Journal: Heart Fail Rev Date: 2015-03 Impact factor: 4.214