Screening of Fabry disease in patients with an implanted permanent pacemaker

• Published in: International journal of cardiology Vol. 372; pp. 71 - 75
• Main Authors: Fingrova, Zdenka, Havranek, Stepan, Sknouril, Libor, Bulava, Alan, Vancura, Vlastimil, Chovanec, Milan, Dedek, Vratislav, Curila, Karol, Skala, Tomas, Jäger, Jiri, Kluh, Tomas, Dostalova, Gabriela, Germain, Dominique P., Linhart, Ales
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.02.2023; Elsevier
• Subjects: Adult; Aged; Atrioventricular Block - diagnosis; Atrioventricular Block - epidemiology; Atrioventricular Block - therapy; Bradycardia; Bradycardia - complications; Bradycardia - therapy; Fabry disease; Fabry Disease - diagnosis; Fabry Disease - epidemiology; Fabry Disease - genetics; Humans; Life Sciences; Male; Middle Aged; Pacemaker, Artificial - adverse effects; Permanent pacing; Prospective Studies; Screening; Sick Sinus Syndrome - diagnosis; Sick Sinus Syndrome - epidemiology; Sick Sinus Syndrome - therapy; ERT; Fabry disease; lyso-Gb3; Screening; Bradycardia; HCM; α-galA; AV; Gb3; PM; GLA; Permanent pacing; AFD; LVH

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...