Cardiac outcome in classic infantile Pompe disease after 13 years of treatment with recombinant human acid alpha-glucosidase.
van Capelle CI, Poelman E, Frohn-Mulder IM, Koopman LP, van den Hout JMP, Régal L, Cools B, Helbing WA, van der Ploeg AT
International journal of cardiology, 2018 Oct 15
Abstract
Cardiac failure is the main cause of death in untreated classic infantile Pompe disease, an inheritable metabolic myopathy characterized by progressive hypertrophic cardiomyopathy. Since the introduction of enzyme replacement therapy (ERT), survival has increased significantly due to reduced cardiac hypertrophy and improved cardiac function. However, little is known about ERT's long-term effects on the heart.