Summary of previous studies examining the prevalence of AFD in patients with HCM
Authors | Year | Screened population | Screening method | Prevalence |
Nakao et al6 | 1995 | 230 Male patients with echocardiographic evidence of LVH (septum or left ventricular posterior wall thickness ≥13 mm) from a cohort of 1603 male subjects | Plasma α-galactosidase A activity | 3.0% |
Sachdev et al7 | 2002 | 79 Consecutive men with HCM (unexplained LVH with a MLVWT ≥13 mm) first diagnosed ≥40 years of age and 74 HCM men first diagnosed <40 years of age | Plasma α-galactosidase A activity |
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Ommen et al12 | 2003 | 100 Consecutive HCM patients (44 men) who underwent septal myectomy | Transmission electron microscopy of myectomy tissue | 0.0% |
Chimenti et al8 | 2004 | 34 Consecutive female patients with HCM (unexplained LVH with a MLVWT ≥13 mm) | Biventricular endomyocardial biopsy and leucocyte α-galactosidase A activity | 11.8% |
Arad et al9 | 2005 | 75 Consecutive patients with HCM (30 women, 45 men) (unexplained LVH with a MLVWT ≥13 mm) | Genetic analysis | 0.0% |
Morita H et al10 | 2006 | 50 Patients (18% women) with echocardiographic evidence of unexplained LVH (MLVWT >13 mm) from a cohort of 1862 subjects | Genetic analysis | 2.0% |
Monserrat et al11 | 2007 | 508 Consecutive patients (328 men, 180 women) with HCM diagnosed according to the WHO/ESC criteria | Plasma α-galactosidase A activity | 1.0% |
Hagege AA et al22 | 2011 | 392 patient with HCM (unexplained LVH with a MLVWT ≥ 15 mm) (278 men) aged 18–79 years | α-galactosidase A assay on dried blood spot using a filter paper test | 1.0% |
AFD, Anderson–Fabry Disease; ESC, European Society of Cardiology; HCM, hypertrophic cardiomyopathy; LVH, left ventricular hypertrophy; MLVWT, maximal left ventricular wall thickness.