Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset fabry mutation (IVS4 + 919G > A)
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چکیده
منابع مشابه
Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset fabry mutation (IVS4 + 919G > A)
BACKGROUND In Taiwan, DNA-based newborn screening showed a surprisingly high incidence of a cardiac Fabry mutation (IVS4 + 919G > A). The prevalence of this mutation is too high to be believed that it is a real pathogenic mutation. The purpose of this study is to identify the cardiac pathologic characteristics in patients with left ventricular hypertrophy and this mutation METHODS AND RESULTS...
متن کاملMRI 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 کاملCorrelations between Endomyocardial Biopsies and Cardiac Manifestations in Taiwanese Patients with the Chinese Hotspot IVS4+919G>A Mutation: Data from the Fabry Outcome Survey
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 ...
متن کاملA comparison of central nervous system involvement in patients with classical Fabry disease or the later-onset subtype with the IVS4+919G>A mutation
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...
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...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2014
ISSN: 1750-1172
DOI: 10.1186/1750-1172-9-96