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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

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • 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

  • 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