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

摘要: Objectives The prevalence of Anderson–Fabry disease (AFD) in patients presenting with unexplained left ventricular hypertrophy (LVH) is controversial. aim this study was to determine the AFD a large, consecutive cohort hypertrophic cardiomyopathy (HCM) using rapid mutation screening. Design, Setting and Patients A European multicentre cross-sectional involving 13 referral centres. Inclusion criteria for were: men aged at least 35 years women 40 years LVH (maximum wall thickness ≥1.5 cm). All were screened denaturing high-performance liquid chromatography protocol screening α-galactosidase (α-Gal A) gene and, if sequence variant found, direct sequencing performed. 1386 (63.9% men, mean age 57.9±12.0 years) enrolled study. Results Seven (0.5%) (age 57.4±9.0 years (45–72); three (43%) men) had pathogenic mutations. Polymorphisms identified 283 (20.4%). Maximal carrying disease-causing 18±2 mm (range 15–22); four concentric remainder asymmetric septal hypertrophy. Conclusions mutations 0.5%.