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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00159816:_____/14:00061013 RIV/00064165:_____/14:10283400

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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

Název v anglickém jazyce

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

Popis výsledku anglicky

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

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FA - Kardiovaskulární nemoci včetně kardiochirurgie

OECD FORD obor

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Projekt

<a href="/cs/project/ED1.100%2F02%2F0123" target="_blank" >ED1.100/02/0123: Fakultní nemocnice u sv. Anny v Brně - Mezinárodní centrum klinického výzkumu (FNUSA - ICRC)</a><br>

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2014

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Journal of Inherited Metabolic Disease

ISSN

0141-8955

e-ISSN

—

Svazek periodika

37

Číslo periodika v rámci svazku

3

Stát vydavatele periodika

NL - Nizozemsko

Počet stran výsledku

6

Strana od-do

455-460

Kód UT WoS článku

000335745700016

EID výsledku v databázi Scopus

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