title: Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS).
abstract: BACKGROUND
  A number of studies have already investigated the prevalence of Fabry disease (FD) in adult patients with unexplained left ventricular hypertrophy (LVH) with rates varying from 0 % up to 12 % reflecting referral and gender bias as well as differences in diagnostic methodology. We aimed to perform a prospective screening study evaluating the prevalence of FD in male patients older than 30 years with strictly defined unexplained LVH followed by general cardiologists.
  
  
  METHODS
  A predefined number of 100 men with unexplained LVH, defined as maximal wall thickness ≥ 13 mm, were identified during an echocardiographic examination in primary cardiology practice and screened by assessing α-galactosidase A activity in dried blood spots (DBS) or in plasma.
  
  
  RESULTS
  Four men (52 ± 4 years, maximal LV wall thickness 18 ± 3 mm) were diagnosed with FD confirmed by enzyme analysis in leukocytes as well as by genetic analysis. Mild extracardiac manifestations of FD were present in two of them.
  
  
  CONCLUSIONS
  The prevalence of FD in our cohort of male patients followed in primary cardiology practice with strictly defined otherwise unexplained LVH was 4 %. We recommend systematic screening for FD in all men older than 30 years with LVH of unknown etiology even in the absence of obvious extracardiac manifestations of FD.
authors.affiliation: 2nd Department of Medicine - Department of Cardiovascular Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, U Nemocnice 2, 128 08, Prague 2, Czech Republic, tpalec@lf1.cuni.cz.
authors.forename: Tomas
authors.initials: T
authors.lastname: Palecek
authors.forename: Jitka
authors.initials: J
authors.lastname: Honzikova
authors.forename: Helena
authors.initials: H
authors.lastname: Poupetova
authors.forename: Hana
authors.initials: H
authors.lastname: Vlaskova
authors.forename: Petr
authors.initials: P
authors.lastname: Kuchynka
authors.forename: Lubor
authors.initials: L
authors.lastname: Golan
authors.forename: Sudheera
authors.initials: S
authors.lastname: Magage
authors.forename: Ales
authors.initials: A
authors.lastname: Linhart
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D009202:Cardiomyopathies / Q000209:etiology*; D000795:Fabry Disease / Q000150:complications* / Q000453:epidemiology; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000209:etiology*; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D011446:Prospective Studies; D016277:Ventricular Function, Left; D000519:alpha-Galactosidase / Q000378:metabolism
chemical_list: D000519:alpha-Galactosidase