Uncertain diagnosis of Fabry disease: Consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance - 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.; et al. (International journal of cardiology, 2014)
Keywords: Adult; Biological and medical sciences; Cardiology. Vascular system; Cardiovascular; Consensus; Delphi Technique; Diagnosis; Diagnosis, Differential; Errors of metabolism; Fabry disease; Fabry Disease - diagnosis; Fabry Disease - genetics; Genetic Variation - genetics; Heart; Humans; Hypertrophic cardiomyopathy; Hypertrophy, Left Ventricular - diagnosis; Hypertrophy, Left Ventricular - genetics; Left ventricular hypertrophy; Lipids (lysosomal enzyme disorders, storage diseases); Male; Medical sciences; Metabolic diseases; Myocarditis. Cardiomyopathies; ERT; Fabry disease; MWT; GVUS; lysoGb3; Consensus; HCM; AGAL-A; Left ventricular hypertrophy; Hypertrophic cardiomyopathy; Diagnosis; GLA; FD; LVH; alpha-galactosidase A gene; enzyme replacement therapy; maximal wall thickness; globotriaosylsphingosine; left ventricular hypertrophy; alpha-galactosidase A; hypertrophic cardiomyopathy; genetic variant of unknown significance; Human; Nervous system diseases; Genetic variant; Metabolic diseases; Lipids; Cardiovascular disease; Enzymopathy; Myocardial disease; Recommendation; Left ventricle; Genetic disease; Vascular disease; Heart disease; Adult; Cardiology; Lipoidosis; Hypertrophy