Article
Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance.
International journal of cardiology - 15 Dec 2014
Smid B E, van der Tol L, Cecchi F, Elliott P M, Hughes D A, Linthorst G E, Timmermans J, Weidemann F, West M L, Biegstraaten M, Lekanne Deprez R H, Florquin S, Postema P G, Tomberli B, van der Wal A C, van den Bergh Weerman M A, Hollak C E
Abstract excerpt
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...
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