Skip to main content
Top
Published in: Orphanet Journal of Rare Diseases 1/2019

Open Access 01-12-2019 | Conventional Pacemaker | Letter to the Editor

Negative screening of Fabry disease in patients with conduction disorders requiring a pacemaker

Authors: Ángela López-Sainz, Vicente Climent, Tomas Ripoll-Vera, Maria Angeles Espinosa, Roberto Barriales-Villa, Marina Navarro, Javier Limeres, Diana Domingo, David C. Kasper, Pablo Garcia-Pavia

Published in: Orphanet Journal of Rare Diseases | Issue 1/2019

Login to get access

Abstract

Identification of Fabry disease (FD) in cardiac patients has been restricted so far to patients with left ventricular hypertrophy. Conduction problems are frequent in FD and could precede other manifestations, offering a possible earlier diagnosis.
We studied the prevalence of FD in 188 patients < 70 years with conduction problems requiring pacemaker implantation. Although classical manifestations of FD were not rare, no patient with FD was identified. Screening efforts should not be conducted in this population.
Literature
1.
go back to reference Reisin R, Perrin A, Garcia-Pavia P. Time delays in the diagnosis and treatment of Fabry disease. Int J Clin Pract. 2017;71(1).CrossRef Reisin R, Perrin A, Garcia-Pavia P. Time delays in the diagnosis and treatment of Fabry disease. Int J Clin Pract. 2017;71(1).CrossRef
2.
go back to reference Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, et al. Fabry disease revisited: management and treatment recommendations for adult patients. Mol Genet Metab. 2018;123:416–27.CrossRef Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, et al. Fabry disease revisited: management and treatment recommendations for adult patients. Mol Genet Metab. 2018;123:416–27.CrossRef
3.
go back to reference Favalli V, Disabella E, Molinaro M, Tagliani M, Scarabotto A, Serio A, et al. Genetic screening of Anderson-Fabry disease in Probands referred from multispecialty clinics. J Am Coll Cardiol. 2016;68:1037–50.CrossRef Favalli V, Disabella E, Molinaro M, Tagliani M, Scarabotto A, Serio A, et al. Genetic screening of Anderson-Fabry disease in Probands referred from multispecialty clinics. J Am Coll Cardiol. 2016;68:1037–50.CrossRef
4.
go back to reference O’Mahony C, Coats C, Cardona M, Garcia A, Calcagnino M, Murphy E, et al. Incidence and predictors of anti-bradycardia pacing in patients with Anderson-Fabry disease. Europace. 2011;13:1781–8.CrossRef O’Mahony C, Coats C, Cardona M, Garcia A, Calcagnino M, Murphy E, et al. Incidence and predictors of anti-bradycardia pacing in patients with Anderson-Fabry disease. Europace. 2011;13:1781–8.CrossRef
5.
go back to reference Patel MR, Cecchi F, Cizmarik M, Kantola I, Linhart A, Ds C, et al. Cardiovascular events in patients with Fabry disease natural history data from the Fabry registry. J Am Col Cardiol. 2011;57:1093–9.CrossRef Patel MR, Cecchi F, Cizmarik M, Kantola I, Linhart A, Ds C, et al. Cardiovascular events in patients with Fabry disease natural history data from the Fabry registry. J Am Col Cardiol. 2011;57:1093–9.CrossRef
Metadata
Title
Negative screening of Fabry disease in patients with conduction disorders requiring a pacemaker
Authors
Ángela López-Sainz
Vicente Climent
Tomas Ripoll-Vera
Maria Angeles Espinosa
Roberto Barriales-Villa
Marina Navarro
Javier Limeres
Diana Domingo
David C. Kasper
Pablo Garcia-Pavia
Publication date
01-12-2019
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2019
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-019-1140-3

Other articles of this Issue 1/2019

Orphanet Journal of Rare Diseases 1/2019 Go to the issue