Publication at First Faculty of Medicine |
2019
Abstract
The therapy of rare diseases in cardiology is based on symptomatic treatment, treatment of complications of rare diseases and in some cases on specific treatment. We mention two diagnosis where modern therapy could slow down progression of disease: Fabry disease where enzyme replacement therapy and chaperon treatment were introduced with good results.
Amyloidosis associated with transthyretin where new evidence for specific treatment of cardiac manifestation has been recently published.