Screening of Fabry disease in patients with an implanted permanent pacemaker
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023884%3A_____%2F23%3A00009673" target="_blank" >RIV/00023884:_____/23:00009673 - isvavai.cz</a>
Alternative codes found
RIV/60076658:12110/23:43905369 RIV/00216208:11110/23:10451468 RIV/00216208:11120/23:43924424 RIV/00216208:11140/23:10451468 and 6 more
Result on the web
<a href="https://pubmed.ncbi.nlm.nih.gov/36473604/" target="_blank" >https://pubmed.ncbi.nlm.nih.gov/36473604/</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.ijcard.2022.11.062" target="_blank" >10.1016/j.ijcard.2022.11.062</a>
Alternative languages
Result language
angličtina
Original language name
Screening of Fabry disease in patients with an implanted permanent pacemaker
Original language description
Background: Anderson-Fabry disease (AFD) is an X-linked inherited lysosomal disease caused by a defect in the gene encoding lysosomal enzyme alpha-galactosidase A (GLA). Atrio-ventricular (AV) nodal conduction defects and sinus node dysfunction are common complications of the disease. It is not fully elucidated how frequently AFD is responsible for acquired AV block or sinus node dysfunction and if some AFD patients could manifest primarily with spontaneous bradycardia in general population. The purpose of study was to evaluate the prevalence of AFD in male patients with implanted permanent pacemaker (PM). Methods: The prospective multicentric screening in consecutive male patients between 35 and 65 years with implanted PM for acquired third-or second-degree type 2 AV block or symptomatic second-degree type 1 AV block or sinus node dysfunction was performed. Results: A total of 484 patients (mean age 54 +/- 12 years at time of PM implantation) were enrolled to the screening in 12 local sites in Czech Republic. Out of all patients, negative result was found in 481 (99%) subjects. In 3 cases, a GLA variant was found, classified as benign: p.Asp313Tyr, p.D313Y). Pathogenic GLA variants (classical or non-classical form) or variants of unclear significance were not detected. Conclusion: The prevalence of pathogenic variants causing AFD in a general population sample with implanted permanent PM for AV conduction defects or sinus node dysfunction seems to be low. Our findings do not advocate a routine screening for AFD in all adult males with clinically significant bradycardia.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - 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
Result continuities
Project
—
Continuities
N - Vyzkumna aktivita podporovana z neverejnych zdroju
Others
Publication year
2023
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
International Journal of Cardiology
ISSN
0167-5273
e-ISSN
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Volume of the periodical
372
Issue of the periodical within the volume
February
Country of publishing house
GB - UNITED KINGDOM
Number of pages
5
Pages from-to
71-75
UT code for WoS article
000919648700001
EID of the result in the Scopus database
2-s2.0-85144952300