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%.
Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry Disease survey / 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.. - In: HEART. - ISSN 1355-6037. - STAMPA. - 97:(2011), pp. 1957-1960. [10.1136/heartjnl-2011-300364]
Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry Disease survey.
PASQUALE, FERDINANDO;RAPEZZI, CLAUDIO;BIAGINI, ELENA;
2011
Abstract
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%.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
