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 >12 mm), GLA GVUS and an uncertain diagnosis of FD.A Delphi method was used to reach a consensus between FD experts. We performed a systematic review selecting criteria on electrocardiogram, MRI and echocardiography to confirm or exclude FD. Criteria for a definite or uncertain diagnosis and a gold standard were defined.A definite diagnosis of FD was defined as follows: a GLA mutation with ≤ 5

作者：B E, Smid；L, van der Tol；F, Cecchi；P M, Elliott；D A, Hughes；G E, Linthorst；J, Timmermans；F, Weidemann；M L, West；M, Biegstraaten；R H, Lekanne Deprez；S, Florquin；P G, Postema；B, Tomberli；A C, van der Wal；M A, van den Bergh Weerman；C E, Hollak

来源：International journal of cardiology 2014 年 177卷 2期