Myocardial alterations in a patient with mucopolysaccharidosis type IS

Myocardial alterations in a patient with mucopolysaccharidosis type IS Cardiovascular flashlight 1863 doi:10.1093/eurheartj/ehy149 CARDIOVASCULAR FLASHLIGHT Online publish-ahead-of-print 15 March 2018 .................................................................................................................................................... 1 2 3 1 Yuki Izumi , Tsunenori Saito *, Shigeru Sato , and Wataru Shimizu 1 2 Department of Cardiovascular Medicine, Nippon Medical School, 1-1-5, Sendagi, Bunkyo-ku, Tokyo 113–8603, Japan; Department of Internal Medicine and Cardiology, Nippon Medical School Tama-Nagayama Hospital, 1-7-1 Nagayama, Tama-shi, Tokyo 206-8512, Japan; and Tokyo Electron Microscopy Laboratory, 870–30 Higashi-fukai, Nagareyama-shi, Chiba 270-0101, Japan *Corresponding author. Tel: 81-42-371-2111, Fax: 81-42-372-7379, Email: tnsaitonms@gmail.com A 47-year-old man diagnosed with mucopolysaccharidosis (MPS) type IS was admitted for chest oppression on effort. Transthoracic and transoesophageal echocardiography showed a highly calcified aortic valve (AV) with a mean gradient of 76 mmHg, AV area of 0.60 cm (Supplementary material online, Video S1), moderate mitral stenosis with a mean gradient of 8 mmHg, mitral valve (MV) area of 1.42 cm (Supplementary material online, Video S2), and left ventricular ejection fraction of 79% with no left ventricular dilatation (Supplementary material online, Video S3). Coronary angiography revealed no significant coronary artery stenosis. Although enzyme replacement ther- apy is an effective treatment for MPS-I, it cannot stop the progression of valvular disorders. Thus, AV and MV replacement and tricuspid annuloplasty were performed. Thickened AV leaflets and a calcified annulus were identified. The MV annulus was also remarkably calci- fied, and the anterior leaflet thickened and shortened. Myocardial tissue was obtained from the atrial septum during surgery for further examination. Foamy cells (arrows) were observed in the myocardium (Panel A) by light microscopy, just like in the MV tissues (Panels B and C, periodic acid-Schiff stain and immunohistochemistry for CD68, respectively). Electron microscopy revealed that foamy cells in the interstitial space (Panel D, arrows) were macrophages with rich nuclear heterochromatin and foot processes (Panel E). Foamy cell vacuoles, i.e. lysosomes, contained with several different electron densities. Moreover, zebra bodies, degenerated lysosomes and a specific feature of MPS, were identi- fied in cardiomyocytes (Panel F, arrows). Even MPS-IS with a slightly better prognosis than MPS-IH has various myocardial alterations. Supplementary material is available at European Heart Journal online. V C Published on behalf of the European Society of Cardiology. All rights reserved. The Author(s) 2018. For permissions, please email: journals.permissions@oup.com. Downloaded from https://academic.oup.com/eurheartj/article-abstract/39/20/1863/4938784 by Ed 'DeepDyve' Gillespie user on 21 June 2018 http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png European Heart Journal Oxford University Press

Myocardial alterations in a patient with mucopolysaccharidosis type IS

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Oxford University Press
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Published on behalf of the European Society of Cardiology. All rights reserved. © The Author(s) 2018. For permissions, please email: journals.permissions@oup.com.
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0195-668X
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1522-9645
D.O.I.
10.1093/eurheartj/ehy149
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Abstract

Cardiovascular flashlight 1863 doi:10.1093/eurheartj/ehy149 CARDIOVASCULAR FLASHLIGHT Online publish-ahead-of-print 15 March 2018 .................................................................................................................................................... 1 2 3 1 Yuki Izumi , Tsunenori Saito *, Shigeru Sato , and Wataru Shimizu 1 2 Department of Cardiovascular Medicine, Nippon Medical School, 1-1-5, Sendagi, Bunkyo-ku, Tokyo 113–8603, Japan; Department of Internal Medicine and Cardiology, Nippon Medical School Tama-Nagayama Hospital, 1-7-1 Nagayama, Tama-shi, Tokyo 206-8512, Japan; and Tokyo Electron Microscopy Laboratory, 870–30 Higashi-fukai, Nagareyama-shi, Chiba 270-0101, Japan *Corresponding author. Tel: 81-42-371-2111, Fax: 81-42-372-7379, Email: tnsaitonms@gmail.com A 47-year-old man diagnosed with mucopolysaccharidosis (MPS) type IS was admitted for chest oppression on effort. Transthoracic and transoesophageal echocardiography showed a highly calcified aortic valve (AV) with a mean gradient of 76 mmHg, AV area of 0.60 cm (Supplementary material online, Video S1), moderate mitral stenosis with a mean gradient of 8 mmHg, mitral valve (MV) area of 1.42 cm (Supplementary material online, Video S2), and left ventricular ejection fraction of 79% with no left ventricular dilatation (Supplementary material online, Video S3). Coronary angiography revealed no significant coronary artery stenosis. Although enzyme replacement ther- apy is an effective treatment for MPS-I, it cannot stop the progression of valvular disorders. Thus, AV and MV replacement and tricuspid annuloplasty were performed. Thickened AV leaflets and a calcified annulus were identified. The MV annulus was also remarkably calci- fied, and the anterior leaflet thickened and shortened. Myocardial tissue was obtained from the atrial septum during surgery for further examination. Foamy cells (arrows) were observed in the myocardium (Panel A) by light microscopy, just like in the MV tissues (Panels B and C, periodic acid-Schiff stain and immunohistochemistry for CD68, respectively). Electron microscopy revealed that foamy cells in the interstitial space (Panel D, arrows) were macrophages with rich nuclear heterochromatin and foot processes (Panel E). Foamy cell vacuoles, i.e. lysosomes, contained with several different electron densities. Moreover, zebra bodies, degenerated lysosomes and a specific feature of MPS, were identi- fied in cardiomyocytes (Panel F, arrows). Even MPS-IS with a slightly better prognosis than MPS-IH has various myocardial alterations. Supplementary material is available at European Heart Journal online. V C Published on behalf of the European Society of Cardiology. All rights reserved. The Author(s) 2018. For permissions, please email: journals.permissions@oup.com. Downloaded from https://academic.oup.com/eurheartj/article-abstract/39/20/1863/4938784 by Ed 'DeepDyve' Gillespie user on 21 June 2018

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European Heart JournalOxford University Press

Published: Mar 15, 2018

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