Title:The Fabry Cardiomyopathy - Diagnostic Approach and Current Treatment
Volume: 21
Issue: 4
Author(s): Frank Weidemann, Georg Ertl, Christoph Wanner and Johannes Krämer
Affiliation:
Keywords:
Fabry disease, cardiomyopathy, monitoring, treatment.
Abstract: Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency. The intracellular
storage of globotriaosylceramides in different tissues and organs leads to a multisystemic disease affecting kidneys, nervous system
and the heart. Fabry cardiomyopathy is frequent and leads to concentric left-ventricular hypertrophy. Typical pattern in advanced stages
is myocardial replacement fibrosis, first localized to mid myocardial layers of postero-lateral basal myocardium and then spreading to
transmural fibrosis.Long term prognosis is dependent on timely initiation of specific and concomitant therapies, while therapy in advanced
stages is only able to stabilize the organ affection.
This review describes the characteristics of Fabry cardiomyopathy, shows the clinical assessment of cardiac involvement and highlights
therapeutic issues aiming at the best outcome for patients with Fabry disease.
