Nationwide screening of Fabry disease in patients with hypertrophic cardiomyopathy in Czech Republic

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00669806%3A_____%2F22%3A10447092" target="_blank" >RIV/00669806:_____/22:10447092 - isvavai.cz</a>

Alternative codes found

RIV/00159816:_____/22:00077782 RIV/00023001:_____/22:00083812 RIV/00843989:_____/22:E0110004 RIV/00064173:_____/22:43923835 and 9 more

Result on the web

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=24CpZt6M.L" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=24CpZt6M.L</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1002/ehf2.14135" target="_blank" >10.1002/ehf2.14135</a>

Result language

angličtina

Original language name

Nationwide screening of Fabry disease in patients with hypertrophic cardiomyopathy in Czech Republic

Original language description

AIMS: Fabry disease (FD) is a rare X-linked genetic disorder caused by α-galactosidase A (AGALA) deficiency. Whereas &apos;classic&apos; variant has multisystemic manifestation, the more recently described &apos;later-onset&apos; variant is characterized by predominant cardiac involvement that often mimics hypertrophic cardiomyopathy (HCM). METHODS AND RESULTS: Consecutive unrelated patients with HCM were screened for FD in 16 (out of 17) cardiac centres in the Czech Republic covering specialized cardiology care from June 2017 to December 2018. AGALA activity and globotriaosylsphingosine (lyso-Gb(3) ) levels were measured in all subjects using the dry blood spot method. FD was suspected in male patients with AGALA activity &lt;1.2 μmol/h/L and in females with either low AGALA activity or lyso-Gb(3) &gt; 3.5 ng/mL. Positive screening results were confirmed by genetic testing. We evaluated 589 patients (390 males, 66%) with HCM (mean maximal myocardial thickness 19.1 +- 4.3 mm). The average age was 58.4 +- 14.7 years. In total, 17 patients (11 males, 6 females) had a positive screening result, and subsequently, six of them (four males and two females) had a genetically confirmed pathogenic GLA mutation (total prevalence of 1.02%). Five of these patients were carrying the p.N215S mutation known to cause a typical later-onset cardiac FD. CONCLUSIONS: We confirmed the prevalence of FD repeatedly reported in previous screening programmes (approximately 1% irrespective of gender) in a non-selected HCM population in Central Europe. Our findings advocate a routine screening for FD in all adult patients with HCM phenotype including both genders. The dry blood spot method used led to identification of clearly pathogenic variants.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

30201 - Cardiac and Cardiovascular systems

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2022

Confidentiality

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

Name of the periodical

ESC Heart Failure [online]

ISSN

2055-5822

e-ISSN

2055-5822

Volume of the periodical

9

Issue of the periodical within the volume

6

Country of publishing house

GB - UNITED KINGDOM

Number of pages

7

Pages from-to

4160-4166

UT code for WoS article

000852286600001

EID of the result in the Scopus database

2-s2.0-85137713240