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

Lopez-Sainz, Angela; Climent, Vicente; Ripoll-Vera, Tomás; Angeles Espinosa, Maria; Barriales-Villa, Roberto; Navarro, Marina; Limeres, Javier; Domingo, Diana; Kasper, David C.; Garcia-Pavia, Pablo

doi:10.1186/s13023-019-1140-3

Identifier to cite or link to this item: http://hdl.handle.net/20.500.13003/15942

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URI: http://hdl.handle.net/20.500.13003/15942

DOI: 10.1186/s13023-019-1140-3

ISSN: 1750-1172

WOS ID: 000475683800001

Scopus EID: 2-s2.0-85068870122

PMID: 31286959

Embase PUI: L628451879

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Publication date

2019-07-08

Document type

letter to the editor

Citation

Lopez-Sainz A, Climent V, Ripoll-Vera T, Espinosa MA, Barriales-Villa R, Navarro M, et al. D249 [letter]. Orphanet J Rare Dis. 2019 Jul 08;14.170.

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 <70years 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.