Later Onset Fabry Disease, Cardiac Damage Progress in Silence Experience With a Highly Prevalent Mutation

ConclusionsSignificant cardiomyocyte substrate accumulation in IVS4 patients led to severe and irreversible cardiac fibrosis before development of LVH or other significant cardiac manifestations. Thus, it might be too late to start enzyme replacement therapy after the occurrence of LVH or other significant cardiac manifestations in patients with later onset FD. This study also indicated the importance of newborn screening for early detection of the insidious, ongoing, irreversible cardiac damage in patients with later onset FD.

Source: Journal of the American College of Cardiology - December 5, 2016 Category: Cardiology Source Type: research