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Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS)
Author(s) -
Palecek Tomas,
Honzikova Jitka,
Poupetova Helena,
Vlaskova Hana,
Kuchynka Petr,
Golan Lubor,
Magage Sudheera,
Linhart Ales
Publication year - 2014
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-013-9659-2
Subject(s) - fabry disease , medicine , left ventricular hypertrophy , cardiology , prospective cohort study , cardiomyopathy , etiology , hypertrophic cardiomyopathy , disease , heart failure , blood pressure
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.