Automated electronic health record-based screening for Fabry disease in unexplained left ventricular hypertrophy (FAPREV-HCM)

Automated electronic health record-based screening for Fabry disease in unexplained left ventricular hypertrophy (FAPREV-HCM)

Background and aims Hypertrophic cardiomyopathy (HCM) has various aetiologies, including genetic conditions like Fabry disease (FD), a lysosomal storage disorder. FD prevalence in high-risk HCM populations ranges from 0.3% to 11.8%. Early diagnosis of FD is crucial due to available treatments, but i...

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Bibliographic Details
Main Authors: Christoph Wanner, Peter Nordbeck, Lora Lorenz, Nurcan Üçeyler, Claudia Sommer, Kolja Lau, Victoria Sokalski, Georg Fette
Format: Article
Language:English
Published: BMJ Publishing Group 2025-01-01
Series:Open Heart
Online Access:https://openheart.bmj.com/content/12/1/e003116.full
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