Novel α-galactosidase A Gene Mutation In A Chinese Family With Fabry Disease Mimicking Clinical Features Of Hypertrophic Cardiomyopathy

BACKGROUND Fabry disease (FD) is a rare, inborn deficiency of the lysosomal enzyme α-galactosidase A (α-Gal A, EC 3.2.1.22), causing progressive intracellular accumulation of globotriaosylceramide (Gb₃). Many cell types are affected, including renal epithelial cells, myocardial cells and neuronal cells, endothelial cells, pericytes, and vascular smooth muscle cells, leading to angiokeratoma, acroparesthesias, and vascular disease of the heart, kidneys, and brain. Recent data have shown that Cardiac involvement with left ventricular hypertrophy (LVH) and structural valve abnormalities is very common and worsens with age in FD patients. It is also the most important cause of death in affected patients. In the clinically severe classic form, the onset of disease manifestations usually occurs in childhood or adolescence, followed by disease progression and premature death. Deposition of Gb₃ in the heart is similar to deposition in other organs. It may be found in all cardiac tissues, with the greatest concentrations occurring in the left ventricular myocardium, and the mitral valve, causing an increase in ventricular wall thickness, mitral valve prolapse, and electrocardiographic abnormalities,...