Fabry Cardiomyopathy
نویسندگان
چکیده
منابع مشابه
Fabry Cardiomyopathy
Fabry disease is a progressive X-linked disorder of glycosphingolipid metabolism caused by a deficiency of the α-galactosidase lysosomal enzyme. The partial or complete deficiency of the lysosomal enzyme leads to an accumulation of neutral glycosphingolipids in the vascular endothelium and visceral tissues throughout the body. In the heart, glycosphingolipids deposition causes progressive left ...
متن کاملA Case of Fabry Cardiomyopathy
In the absence of hypertension, hypertrophic cardiomyopathy is the most common cause of left ventricular hypertrophy (LVH). However, it has been reported that up to 3% of males with unexplained LVH have Fabry disease, an X-linked disorder of glycophospholipid metabolism that is due to a deficiency in the lysosomal enzyme alpha-galactosidase A (alpha-Gal A). A 44-year-old man was admitted to our...
متن کاملFabry Cardiomyopathy: A Global View
Fabry disease (FD) is a lysosomal storage disease (LSD). It has been stated that the second most common LSD after Gaucher disease is Fabry disease; its worldwide incidence is from approximately 1 in 40 000 to 1 in 117 000 live newborns for the classic form of the disease, but the precise prevalence is unknown. Wide variations in the prevalence of FD have been reported in different countries and...
متن کاملPathology and function of conduction tissue in Fabry disease cardiomyopathy.
BACKGROUND Cardiac arrhythmias are common in Fabry disease (FD) and may occur in prehypertrophic cardiomyopathy suggesting an early compromise of conduction tissue (CT). Therefore, FD X-linked and CT may be variously involved in male and female patients with FD cardiomyopathy, affecting CT function. METHODS AND RESULTS Among 74 patients with endomyocardial biopsy diagnosis of FD cardiomyopath...
متن کاملCardiac abnormalities in Anderson-Fabry disease and Fabry’s cardiomyopathy
Fabry's disease is an X-linked lysosomal storage disease most often associated with renal dysfunction and death due to renal failure in patients' fourth and fifth decades of life. However, cardiac manifestations including arrhythmias, angina and heart failure are common and probably underrecognized. Furthermore, Fabry's disease is now recognised as also affecting female carriers, who manifest s...
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ژورنال
عنوان ژورنال: Journal of Cardiovascular Ultrasound
سال: 2013
ISSN: 1975-4612,2005-9655
DOI: 10.4250/jcu.2013.21.1.26