Cardiac manifestations of Fabry's disease

Enzyme Replacement Therapy in Fabry Disease

“…Progressive glomerular injury is associated with mesangial widening and ultimately with segmental and global glomerulosclerosis. 6 Patients often also develop hypertrophic cardiomyopathy, 7 coronary artery disease, valvular abnormalities, 8,9 dysrhythmias, and conduction disturbances.…”

Ventricular Fibrillation Refractory to Automatic Internal Cardiac Defibrillator in Fabry’s Disease

“…Despite the frequent reporting of the shortened PR interval, it has been suggested that this might be a coincidental finding, not present in some series of patients [8]. These electrocardiographic changes are felt to be secondary to the glycosphingolipid deposition that has been demonstrated within the sinus node, the atrioventricular node, the bundle of His, and the left and right bundle branches [9]. Electrophysiologic studies have failed to identify the shortened PR interval as characteristic of a bypass tract, and instead it is felt to be due to an acceleration of conduction through the conduction system, as is seen in Pompe’s disease (glycogen storage disease type 2) [10, 11].…”

“…Interestingly, mitral valvular disease was not apparent on M-mode echocardiography in an earlier study [16]. The presence of mitral valvulopathy is felt to be due to both valvular infiltrations with glycosphingolipid, as well as infiltration of the supporting chordae tendonae [9]. Previous reports have described Fabry’s disease mimicking hypertrophic obstructive cardiomyopathy; our patient, however, had no evidence of left ventricular outflow tract obstruction or systolic anterior motion of the mitral valve [17, 18].…”

Fabry Disease – A Metabolic Disorder with a Challenge for Endocrinologists?

“…Cardiac hypertrophy is common as are arrhythmias, valvular insufficiency, cardiac conduction abnormalities and obstruction of coronary arteries leading to ischaemic heart disease and myocardial infarction [8, 58, 59, 60]. A particular ‘cardiac variant’ typically presents in late adulthood (>40 years) with left ventricular hypertrophy and non-obstructive cardiomyopathy.…”

“…Deposition of Gb 3 occurs at multiple sites throughout the nephrons and renal vasculature, resulting in progressive glomerular injury [12]. Patients often also develop hypertrophic cardiomyopathy [13], coronary artery disease, vascular abnormalities [14, 15], dysrhythmias and conduction disturbances [16]. Affected men usually die of cardiovascular, cerebrovascular or renal disease during the 4th or 5th decade of life [17].…”