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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).

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.

journal_name

J Inherit Metab Dis

journal_title

Journal of inherited metabolic disease

authors

Palecek T,Honzikova J,Poupetova H,Vlaskova H,Kuchynka P,Golan L,Magage S,Linhart A

doi

10.1007/s10545-013-9659-2

subject

Has Abstract

pub_date

2014-05-01 00:00:00

pages

455-60

issue

3

eissn

0141-8955

issn

1573-2665

journal_volume

37

pub_type

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