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

Ángela López-Sainz1,2, Vicente Climent3, Tomas Ripoll-Vera4

  • 1Department of Cardiology, Hospital Universitario Puerta de Hierro Majadahonda, Manuel de Falla, 2. Majadahonda, 28222, Madrid, Spain.

Orphanet Journal of Rare Diseases
|July 10, 2019
PubMed

Insights

Screening for Fabry disease (FD) in cardiac patients under 70 with pacemaker-requiring conduction problems found no cases. Current screening for FD in cardiac patients should not include this specific population.

Area of Science:

  • Cardiology
  • Genetics
  • Rare Diseases

Background:

  • Fabry disease (FD) diagnosis in cardiac patients has primarily focused on left ventricular hypertrophy.
  • Conduction abnormalities in FD may indicate earlier disease stages and potential for earlier diagnosis.

Keywords:
Conduction diseaseFabry diseaseLeft ventricular hypertrophyPacemakerScreening

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