@article{d459f6b707c54e5a9c07eed6cc29a855,
title = "Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset fabry mutation (IVS4 + 919G > A)",
abstract = "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. Endomyocardial biopsies were obtained in 22 patients (Median age: 61, males: 17; females: 5) with left ventricular hypertrophy and the IVS4 + 919G > A mutation; five patients had not received enzyme replacement therapy (ERT) before biopsy, while the other 17 patients had received ERT from 8 months to 51 months. Except for three patients who had received ERT for more than 3 years, all other patients showed significant pathological change and globotriaosylceramide (Gb3) accumulation in their cardiomyocytes. In contrast to classical Fabry patients, no Gb3 accumulation was found in the capillary endothelial cells of any of our patients. Fourteen patients (63.6%) were found to have myofibrillolysis. Conclusions: All of the untreated and most of the treated IVS4 + 919G > A patients showed typical pathological changes of Fabry disease in their cardiomyocytes. No endothelial accumulation of Gb3 was found, which is similar to the findings of several previous reports regarding later-onset Fabry disease. This result highly suggests that the IVS4 + 919G > A is a real pathogenic later-onset Fabry mutation.",
keywords = "Endomyocardial biopsy, Enzyme replacement therapy, Fabry disease, Left ventricular hypertrophy",
author = "Hsu, {Ting Rong} and Sung, {Shih Hsien} and Chang, {Fu Pang} and Yang, {Chia Feng} and Liu, {Hao Chuan} and Lin, {Hsiang Yu} and Huang, {Chun Kai} and Gao, {He Jin} and Huang, {Yu Hsiu} and Liao, {Hsuan Chieh} and Lee, {Pi Chang} and Yang, {An Hang} and Chiang, {Chuan Chi} and Lin, {Ching Yuang} and Yu, {Wen Chung} and Niu, {Dau Ming}",
note = "Funding Information: This work was partially supported by the National Science Council, Taiwan (No. NSC-100-2325-B-010-014) and Taipei Veterans General Hospital (No. V101C-129 and V101C-187). Funding Information: The authors thank Ms. Tina, Wu and Mr. Hann-Tyng, Chang for their review and suggestion. The authors acknowledge the support from the industry-hospital cooperative research project between the Taipei Veterans General Hospital and Shire. Our center has received several research grants regarding Fabry disease from Shire Pharmaceuticals and Excelsior Biopharma. Shire had provided English language editing service for this manuscript. However, Shire had no role in the study design; the collection, analysis and interpretation of data; the writing of the manuscript; or the decision to submit the paper for publication. The opinions are those of the authors.",
year = "2014",
month = jul,
day = "1",
doi = "10.1186/1750-1172-9-96",
language = "English",
volume = "9",
journal = "Orphanet Journal of Rare Diseases",
issn = "1750-1172",
publisher = "BioMed Central Ltd.",
number = "1",
}