Cardiopulmonary involvement in Fabry's disease.

  title={Cardiopulmonary involvement in Fabry's disease.},
  author={Juha W. Koskenvuo and Ilkka M. Kantola and Pirjo Nuutila and Juhani Knuuti and Riitta Parkkola and Ilkka Mononen and Saija A. M. Hurme and Riikka J. Kalliokoski and Jorma S. A. Viikari and Maria Wendelin-Saarenhovi and Tuomas O Kiviniemi and Jaakko J. Hartiala},
  journal={Acta cardiologica},
  volume={65 2},
BACKGROUND Fabry's disease is an X-linked lysosomal storage disease caused by deficiency of alpha-galactosidase A enzyme activity. Decreased enzyme activity leads to accumulation of glycosphingolipid in different tissues, including endothelial and smooth-muscle cells and cardiomyocytes. OBJECTIVES There is controversial data on cardiopulmonary involvement in Fabry's disease, because many reports are based on small and selected populations with Fabry's disease. Furthermore, the aetiology of… CONTINUE READING