Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance.

@article{Smid2014UncertainDO,
  title={Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance.},
  author={Bouwien E. Smid and Linda van der Tol and Franco Cecchi and Perry M Elliott and Derryalynn A Hughes and G. E. Linthorst and Janneke Timmermans and Frank Weidemann and Michael L. West and Marieke Biegstraaten and Ronald H Lekanne Deprez and Sandrine Florquin and Pieter G. Postema and Benedetta Tomberli and Allard C. van der Wal and Marius A. van den Bergh Weerman and Carla E. M. Hollak},
  journal={International journal of cardiology},
  year={2014},
  volume={177 2},
  pages={400-8}
}
BACKGROUND Screening in subjects with left ventricular hypertrophy (LVH) reveals a high prevalence of Fabry disease (FD). Often, a diagnosis is uncertain because characteristic clinical features are absent and genetic variants of unknown significance (GVUS) in the α-galactosidase A (GLA) gene are identified. This carries a risk of misdiagnosis, inappropriate counselling and extremely expensive treatment. We developed a diagnostic algorithm for adults with LVH (maximal wall thickness (MWT) of… CONTINUE READING