{alpha}-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease [Original Articles]

Conclusions—
α-Galactosidase A genotype N215S does not lead to the development of a classical Fabry phenotype but induces a specific cardiac variant of Fabry disease mimicking nonobstructive hypertrophic cardiomyopathy. The lack of prominent noncardiac impairment leads to a significant delay in diagnosis and Fabry-specific therapy.

Source: Circulation: Cardiovascular Genetics - October 10, 2017 Category: Cardiology Authors: Oder, D., Liu, D., Hu, K., Uceyler, N., Salinger, T., Muntze, J., Lorenz, K., Kandolf, R., Grone, H.-J., Sommer, C., Ertl, G., Wanner, C., Nordbeck, P. Tags: Nephrology and Kidney, Genetics, Cardiomyopathy, Hypertrophy, Cerebrovascular Disease/Stroke Original Articles Source Type: research