Tomas Palecek, Michal Fikrle, Eduard Nemecek, Lenka Bauerova, Petr Kuchynka, William E. Louch, Ivan Spicka and Romana Rysava Pages 479 - 483 ( 5 )
Friedreich’s ataxia (FA) is associated with progressive cardiac hypertrophy resulting from a genetic abnormality in the frataxin gene. Cardiac involvement is the most common cause of death (59%) in FA patients. Cardiac related death occurs at a significantly younger age than non-cardiac related death. Idebenone is a short-chain quinone analogue with a potent free-radical scavenger action. This drug has the potential to preserve and even improve mitochondrial function.Studies on Idebenone treatment showed rather conflicting results on FA cardiomyopathy. The present article reviews the clinical features of FA cardiomyopathy, imaging techniques used to diagnose, follow and monitor therapy which aimed to revert FA cardiomyopathy.
Idebenone, Friedreich’s ataxia, Echocardiography.
Department of Medicine – Department of Cardiovascular Medicine, General University Hospital in Prague, First Faculty of Medicine, Charles University in Prague, U Nemocnice 2, 128 08 Prague 2, Czech Republic.