Negative screening of Fabry disease in patients with conduction disorders requiring a pacemaker | Orphanet Journal of Rare Diseases | Full Text

Negative screening of Fabry disease in patients with conduction disorders requiring a pacemaker | Orphanet Journal of Rare Diseases | Full Text

Orphanet Journal of Rare Diseases

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

• Ángela López-Sainz,
• Vicente Climent,
• Tomas Ripoll-Vera,
• Maria Angeles Espinosa,
• Roberto Barriales-Villa,
• Marina Navarro,
• Javier Limeres,
• Diana Domingo,
• David C. Kasper and
• Pablo Garcia-PaviaEmail authorView ORCID ID profile

Orphanet Journal of Rare Diseases201914:170

https://doi.org/10.1186/s13023-019-1140-3

©  The Author(s). 2019

• Received: 10 May 2019
• Accepted: 25 June 2019
• Published: 8 July 2019

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.

Keywords

• Fabry disease
• Conduction disease
• Pacemaker
• Left ventricular hypertrophy
• Screening