MRI assessment of cardiomyopathy in Taiwan Chinese late-onset Fabry mutation (IVS4+919G>A)
نویسندگان
چکیده
منابع مشابه
MRI assessment of cardiomyopathy in Taiwan Chinese late-onset Fabry mutation (IVS4+919G>A)
Background Fabry disease is a rare X-linked disorder characterized by deficiency ofa-galactosidase A, leading to progressive accumulation of glycosphingolipid in various organs, including the heart. Recently, several later-onset phenotypes of Fabry disease with residual enzyme activity have been identified. In Taiwan, several recent studies pointed out a surprisingly high incidence of a later o...
متن کاملPrevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy.
BACKGROUND Although studies have suggested that "late-onset" hypertrophic cardiomyopathy (HCM) may be caused by sarcomeric protein gene mutations, the cause of HCM in the majority of patients is unknown. This study determined the prevalence of a potentially treatable cause of hypertrophy, Anderson-Fabry disease, in a HCM referral population. METHODS AND RESULTS Plasma alpha-galactosidase A (a...
متن کاملPrevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy.
BACKGROUND Fabry disease (FD) has been recognized as the cause of left ventricular hypertrophy in 6% of men with late-onset hypertrophic cardiomyopathy (HCM). Although FD is considered a recessive X-linked disorder, affected women are increasingly reported. The aim of our study was to determine the prevalence of FD in female patients with HCM. METHODS AND RESULTS Thirty-four consecutive women...
متن کاملEffects of enzyme replacement therapy for cardiac-type Fabry patients with a Chinese hotspot late-onset Fabry mutation (IVS4+919G>A)
OBJECTIVE Current studies of newborn screening for Fabry disease in Taiwan have revealed a remarkably high prevalence of cardiac-type Fabry disease with a Chinese hotspot late-onset Fabry mutation (IVS4+919G>A). DESIGN Retrospective cohort study. SETTING Tertiary medical centre. PARTICIPANTS 21 patients with cardiac-type Fabry disease (15 men and 6 women) as well as 15 patients with class...
متن کاملFabry 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 ...
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ژورنال
عنوان ژورنال: Journal of Cardiovascular Magnetic Resonance
سال: 2015
ISSN: 1532-429X
DOI: 10.1186/1532-429x-17-s1-p276