Cor Vasa 2005, 46(6):242-245

Multicentric screening of Fabry disease in individuals with unexplained left ventricular hypertrophy. Fabry Cardio-myopathy Screening Study (FACSS): study design

Tomáš Paleček^*, Aleš Linhart, Sudheera Magage, Jean-Claude Lubanda, Debora Karetová, Jan Bultas, Michael Aschermann

II. interní klinika kardiologie a angiologie, Všeobecná fakultní nemocnice a 1. lékařská fakulta Univerzity Karlovy, Praha, Česká republika

Fabry disease is a lysosomal storage disease caused by the X-linked defect of the enzyme "-galactosidase A, which leads to intracellular accumulation of glycosphingolipids in various organs and tissues. Cardiac involvement is frequent and, in individuals with some residual enzyme activity, it may be the sole manifestation of the disease. The dominant cardiac manifestations include left ventricular hypertrophy, which may mimic hypertrophic cardiomyopathy. According to current knowledge, Fabry disease is likely to be present in 3-12% of individuals with otherwise unexplained left ventricular hypertrophy on follow-up for late-onset hypertrophic cardiomyopathy. The purpose of this article is to present to Czech cardiologists the aims and methods of the multicenter screening study on the presence of Fabry disease in patients with unexplained left ventricular hypertrophy, and to address physicians who could possibly like to participate in the project.

Keywords: Fabry disease; Left ventricular hypertrophy; Echocardiography; Blood-spot test

Published: June 1, 2005  Show citation