Screening of Fabry disease in patients with an implanted permanent pacemaker
Jazyk angličtina Země Nizozemsko Médium print-electronic
Typ dokumentu časopisecké články
PubMed
36473604
DOI
10.1016/j.ijcard.2022.11.062
PII: S0167-5273(22)01812-5
Knihovny.cz E-zdroje
- Klíčová slova
- Bradycardia, Fabry disease, Permanent pacing, Screening,
- MeSH
- atrioventrikulární blokáda * diagnóza epidemiologie terapie MeSH
- bradykardie komplikace terapie MeSH
- dospělí MeSH
- Fabryho nemoc * diagnóza epidemiologie genetika MeSH
- kardiostimulátor * škodlivé účinky MeSH
- lidé středního věku MeSH
- lidé MeSH
- prospektivní studie MeSH
- senioři MeSH
- syndrom chorého sinu diagnóza epidemiologie terapie MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- Publikační typ
- časopisecké články MeSH
BACKGROUND: Anderson-Fabry disease (AFD) is an X-linked inherited lysosomal disease caused by a defect in the gene encoding lysosomal enzyme α-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.
Cardiocenter Department of Cardiology Na Homolce Hospital Prague Czech Republic
Cardiocenter Department of Cardiology University Hospital Olomouc Olomouc Czech Republic
Department of Cardiology Cardiocenter Hospital Podlesi Trinec Czech Republic
Department of Cardiology Regional Hospital Kladno Kladno Czech Republic
Faculty of Medicine Charles Univesity and General University Hospital Prague Prague Czech Republic
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