Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS)

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F14%3A10283400" target="_blank" >RIV/00216208:11110/14:10283400 - isvavai.cz</a>
Alternative codes found
RIV/00159816:_____/14:00061013 RIV/00064165:_____/14:10283400
Result on the web
<a href="http://dx.doi.org/10.1007/s10545-013-9659-2" target="_blank" >http://dx.doi.org/10.1007/s10545-013-9659-2</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s10545-013-9659-2" target="_blank" >10.1007/s10545-013-9659-2</a>

Result language
angličtina
Original language name
Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS)
Original language description
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 indiagnostic 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. A predefined number of 100 men with unexplained LVH, defined as maximal wall thickness a parts per thousand yen 13 mm, were identified during an echocardiographic examination in primary cardiology practice and screened by assessing alpha-galactosidase A activity in dried blood spots (DBS) orin plasma. 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 t
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FA - Cardiovascular diseases including cardio-surgery
OECD FORD branch
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Project
<a href="/en/project/ED1.100%2F02%2F0123" target="_blank" >ED1.100/02/0123: St. Anne´s University Hospital Brno - International Clinical Research Center (FNUSA-ICRC)</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2014
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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