Cardiac abnormalities in Anderson-Fabry disease and Fabry's cardiomyopathy.

摘要: Fabry's disease is an X-linked lysosomal storage most often associated with renal dysfunction and death due to failure in patients' fourth fifth decades of life. However, cardiac manifestations including arrhythmias, angina heart are common probably underrecognized. Furthermore, now recognised as also affecting female carriers, who manifest signs later than males. A variant has been identified that only affects tissue, which presents unexplained hypertrophy the left ventricle middle-aged patients, possibly women more affected men. Given epidemiological studies report a prevalence cardiomyopathy among patients be anywhere from one 12%, it reasonable screen these for alpha-galactosidase deficiency. Although mortality data lacking randomised, controlled trials galactosidase replacement therapy, there some reports improvement endpoints. Therefore known should screened early involvement, treatment benefit may not seen once fibrosis developed.