Table 3

Summary of previous studies examining the prevalence of AFD in patients with HCM

AuthorsYearScreened populationScreening methodPrevalence
Nakao et al61995230 Male patients with echocardiographic evidence of LVH (septum or left ventricular posterior wall thickness ≥13 mm) from a cohort of 1603 male subjectsPlasma α-galactosidase A activity3.0%
Sachdev et al7200279 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 agePlasma α-galactosidase A activity
  • 6.3% in patients diagnosed ≥40 years

  • 1.4% in patients diagnosed <40 years

Ommen et al122003100 Consecutive HCM patients (44 men) who underwent septal myectomyTransmission electron microscopy of myectomy tissue0.0%
Chimenti et al8200434 Consecutive female patients with HCM (unexplained LVH with a MLVWT ≥13 mm)Biventricular endomyocardial biopsy and leucocyte α-galactosidase A activity11.8%
Arad et al9200575 Consecutive patients with HCM (30 women, 45 men) (unexplained LVH with a MLVWT ≥13 mm)Genetic analysis0.0%
Morita H et al10200650 Patients (18% women) with echocardiographic evidence of unexplained LVH (MLVWT >13 mm) from a cohort of 1862 subjectsGenetic analysis2.0%
Monserrat et al112007508 Consecutive patients (328 men, 180 women) with HCM diagnosed according to the WHO/ESC criteriaPlasma α-galactosidase A activity1.0%
Hagege AA et al222011392 patient with HCM (unexplained LVH with a MLVWT ≥ 15 mm) (278 men) aged 18–79 yearsα-galactosidase A assay on dried blood spot using a filter paper test1.0%
  • AFD, Anderson–Fabry Disease; ESC, European Society of Cardiology; HCM, hypertrophic cardiomyopathy; LVH, left ventricular hypertrophy; MLVWT, maximal left ventricular wall thickness.