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Screening of Fabry disease in patients with an implanted permanent pacemaker

Z. Fingrova, S. Havranek, L. Sknouril, A. Bulava, V. Vancura, M. Chovanec, V. Dedek, K. Curila, T. Skala, J. Jäger, T. Kluh, G. Dostalova, DP. Germain, A. Linhart

. 2023 ; 372 (-) : 71-75. [pub] 20221205

Language English Country Netherlands

Document type Journal Article

Persistent link   https://www.medvik.cz/link/bmc23004365

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.

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$a Fingrova, Zdenka $u 2(nd) Department of Medicine - Department of Cardiovascular Medicine of the 1(st) Faculty of Medicine, Charles Univesity, and General University Hospital in Prague, Prague, Czech Republic
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$a Screening of Fabry disease in patients with an implanted permanent pacemaker / $c Z. Fingrova, S. Havranek, L. Sknouril, A. Bulava, V. Vancura, M. Chovanec, V. Dedek, K. Curila, T. Skala, J. Jäger, T. Kluh, G. Dostalova, DP. Germain, A. Linhart
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$a 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.
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$a Havranek, Stepan $u 2(nd) Department of Medicine - Department of Cardiovascular Medicine of the 1(st) Faculty of Medicine, Charles Univesity, and General University Hospital in Prague, Prague, Czech Republic. Electronic address: stepan.havranek@lf1.cuni.cz
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$a Sknouril, Libor $u Department of Cardiology, Cardiocenter, Hospital Podlesi, Trinec, Czech Republic
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$a Bulava, Alan $u Department of Cardiology, Ceske Budejovice Hospital and Faculty of Health and Social Sciences, University of South Bohemia, Ceske Budejovice, Czech Republic
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$a Vancura, Vlastimil $u Department of Cardiology, University Hospital and Faculty of Medicine Pilsen, Charles Univesity, Plzen, Czech Republic
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$a Chovanec, Milan $u Cardiocenter, Department of Cardiology, Na Homolce Hospital, Prague, Czech Republic
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$a Dedek, Vratislav $u Hospital Usti nad Orlici, Usti nad Orlici, Czech Republic
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$a Curila, Karol $u Cardiocenter, 3(rd) Faculty of Medicine, Charles University and University Hospital Kralovske Vinohrady, Prague, Czech Republic
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$a Skala, Tomas $u Cardiocenter, Department of Cardiology, University Hospital Olomouc, Olomouc, Czech Republic
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$a Jäger, Jiri $u 1(st) Department of Internal Medicine, University Hospital Hradec Kralove, Faculty of Medicine Hradec Kralove, Charles University, Hradec Kralove, Czech Republic
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$a Kluh, Tomas $u Department of Cardiology, Regional Hospital Kladno, Kladno, Czech Republic
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$a Dostalova, Gabriela $u 2(nd) Department of Medicine - Department of Cardiovascular Medicine of the 1(st) Faculty of Medicine, Charles Univesity, and General University Hospital in Prague, Prague, Czech Republic
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$a Germain, Dominique P $u 2(nd) Department of Medicine - Department of Cardiovascular Medicine of the 1(st) Faculty of Medicine, Charles Univesity, and General University Hospital in Prague, Prague, Czech Republic; Division of Medical Genetics, University of Versailles, Montigny, France
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$a Linhart, Ales $u 2(nd) Department of Medicine - Department of Cardiovascular Medicine of the 1(st) Faculty of Medicine, Charles Univesity, and General University Hospital in Prague, Prague, Czech Republic
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