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

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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.

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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.

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