Screening of Fabry disease in patients with an implanted permanent pacemaker

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/60076658:12110/23:43905369 RIV/00216208:11110/23:10451468 RIV/00216208:11120/23:43924424 RIV/00216208:11140/23:10451468 a 6 dalších

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

Screening of Fabry disease in patients with an implanted permanent pacemaker

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

Screening of Fabry disease in patients with an implanted permanent pacemaker

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30201 - Cardiac and Cardiovascular systems

Projekt

—

Návaznosti

N - Vyzkumna aktivita podporovana z neverejnych zdroju

Rok uplatnění

2023

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

International Journal of Cardiology

ISSN

0167-5273

e-ISSN

—

Svazek periodika

372

Číslo periodika v rámci svazku

February

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

5

Strana od-do

71-75

Kód UT WoS článku

000919648700001

EID výsledku v databázi Scopus

2-s2.0-85144952300