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Int. J. Mol. Sci. 2017, 18(1), 119; doi:10.3390/ijms18010119

Correlations between Endomyocardial Biopsies and Cardiac Manifestations in Taiwanese Patients with the Chinese Hotspot IVS4+919G>A Mutation: Data from the Fabry Outcome Survey

1
Department of Pediatrics, Taipei Veterans General Hospital, Taipei 112, Taiwan
2
Institute of Clinical Medicine, National Yang-Ming University, Taipei 112, Taiwan
3
Department of Pathology and Laboratory Medicine, Taipei Veterans General Hospital, Taipei 112, Taiwan
4
Division of Cardiology, Department of Medicine, Taipei Veterans General Hospital and National Yang-Ming University, Taipei 112, Taiwan
5
Shire, 6300 Zug, Switzerland
*
Authors to whom correspondence should be addressed.
Academic Editor: Ritva Tikkanen
Received: 1 November 2016 / Revised: 16 December 2016 / Accepted: 21 December 2016 / Published: 9 January 2017
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Abstract

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 [60.4; 65.1] years, respectively), 13 males (54.2%) and five females (83.3%) received agalsidase alfa enzyme replacement therapy (ERT) before biopsy. Median left ventricular mass indexed to height (LVMI) within ±6 months of biopsy was 65.3 (52.7; 93.1) in males and 53.2 (42.0; 55.0) g/m2.7 in females. A moderate, positive, statistically significant correlation was found between the percentage area Gb3 accumulation in cardiomyocytes and LVMI (Spearman’s ρ, 0.45; p = 0.014); a smaller, positive, non-statistically significant correlation was observed between cardiomyocyte diameter and LVMI (Spearman’s ρ 0.16, p = 0.394). Moderate, statistically significant, negative correlations were found between Gb3 accumulation and ERT duration (Spearman’s ρ, −0.49, p = 0.007) and between cardiomyocyte size and ERT duration (Spearman’s ρ, −0.37, p = 0.048). Longer ERT duration was associated with smaller amounts of Gb3 accumulation and smaller cardiomyocyte size. Further follow-up is recommended to confirm these trends in a larger sample size. View Full-Text
Keywords: Fabry disease; Fabry Outcome Survey; endomyocardial biopsy; enzyme replacement therapy; hypertrophic cardiomyopathy Fabry disease; Fabry Outcome Survey; endomyocardial biopsy; enzyme replacement therapy; hypertrophic cardiomyopathy
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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MDPI and ACS Style

Hsu, T.-R.; Chang, F.-P.; Chu, T.-H.; Sung, S.-H.; Bizjajeva, S.; Yu, W.-C.; Niu, D.-M. Correlations between Endomyocardial Biopsies and Cardiac Manifestations in Taiwanese Patients with the Chinese Hotspot IVS4+919G>A Mutation: Data from the Fabry Outcome Survey. Int. J. Mol. Sci. 2017, 18, 119.

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