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Electrocardiographic Changes and Arrhythmia in Fabry Disease
#MMPMID27047943
Namdar M
Front Cardiovasc Med
2016[]; 3
(?): 7
PMID27047943
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Fabry disease is an X-chromosome-linked lysosomal storage disease characterized
by a deficient activity or, in most males, absence of the enzyme ?-galactosidase
A (a-Gal A) leading to systemic, primary lysosomal accumulation of
globotriaosylceramide (Gb3) (1). Recent literature refers to an overall birth
prevalence of 1:40,000-170,000; however, such data do not allow an estimation on
an actual patient number suffering from Fabry disease (2). Multisystem morbidity
commonly develops in childhood and, with progression of the disease,
life-threatening complications often occur in adulthood, including renal failure,
cardiovascular dysfunction, neuropathy, and stroke (3-6). Life expectancy is
reduced by an average of 15?years in female patients and 20?years in male
patients (7, 8). The pathognomonic Gb3 accumulation has been repeatedly observed
over the past decades by many groups in vascular endothelial and smooth muscle
cells, cardiomyocytes, cardiac conduction tissue, and valvular fibroblasts (3).
Although incompletely described, it is likely that inflammatory and neurohormonal
mechanisms are involved in subsequent cellular and vascular dysfunction, leading
to tissue ischemia, hypertrophy, and fibrosis (9). Furthermore, recently
published works on cardiomyocyte dysfunction and conduction tissue involvement
have suggested that cardiac dysfunction may reflect increased myocardial nitric
oxide production with oxidative damage of cardiomyocyte myofilaments and DNA,
causing cell dysfunction and death, and accelerated conduction with prolonged
refractoriness and electric instability (10, 11).
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