Assessment of Fabry variant (IVS4+919G>A) Cardiomyopathy in Taiwanese: Emphasis on T1 mapping
نویسندگان
چکیده
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. Several studies have pointed out the unique pre-contrast T1 value character of classic Fabry cardiomyopathy, which is lower than the normal myocardium. In Taiwan, several recent studies pointed out a surprisingly high incidence of a later onset Fabry mutation (IVS4+919G>A). There is a lack of information about the T1 value of this Fabry variant cardiomyopathy in the literature. We aim to present the T1 value of this subtype of Fabry disease on cardiac MR.
منابع مشابه
High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population.
BACKGROUND Fabry disease is a treatable lysosomal storage disorder, which is often misdiagnosed or belatedly diagnosed. METHODS AND RESULTS To determine the disease incidence in the Taiwan Chinese population, a Fabry disease newborn screening study was initiated. A total of 110 027 newborns were screened by assaying the alpha-galactosidase A (alpha-Gal A) activity using dry blood spots. Low p...
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BACKGROUND Patients with the later-onset IVS4+919G>A (IVS4) Fabry mutation are known to have positive central nervous system involvement compared with age- and sex-matched controls. This study compares central nervous system manifestations in patients with the IVS4 mutation or classical Fabry mutations. METHODS This was a retrospective analysis of magnetic resonance imaging (MRI) data from Ta...
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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...
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We retrospectively evaluated correlations between cardiac manifestations and globotriaosylceramide (Gb3) accumulation in cardiomyocytes from Taiwanese patients with Fabry disease and the IVS4+919G>A (IVS4) mutation who underwent endomyocardial biopsy (Shire; Fabry Outcome Survey data; extracted January 2015). Of 24 males and six females (median age [Q1; Q3] at biopsy 60.4 [57.4; 64.1] and 61.3 ...
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While a base substitution in intron 4 of GLA (IVS4+919G>A) that causes aberrant alternative splicing resulting in Fabry disease has been reported, its molecular mechanism remains unclear. Here we reported that upon IVS4+919G>A transversion, H3K36me3 was enriched across the alternatively spliced region. PSIP1, an adapter of H3K36me3, together with Hsp70 and NONO were recruited and formed a compl...
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