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Aortic calcification in Gaucher disease: a case report

Authors Alsahli S, Bubshait DK, Rahbeeni ZA, Alfadhel M

Received 21 July 2018

Accepted for publication 21 September 2018

Published 17 October 2018 Volume 2018:11 Pages 107—110

DOI https://doi.org/10.2147/TACG.S180995

Checked for plagiarism Yes

Review by Single-blind

Peer reviewers approved by Dr Colin Mak

Peer reviewer comments 2

Editor who approved publication: Prof. Dr. Martin H. Maurer


Saud Alsahli,1,2 Dalal K Bubshait,3 Zuhair A Rahbeeni,4 Majid Alfadhel1,2

1Medical Genomic Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia; 2Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia; 3Department of Pediatrics, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia; 4Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

Abstract: Gaucher disease is the most common sphingolipid storage disease and is present in all ethnic groups. Its symptoms span all systems including the cardiovascular system. The health care provider should be vigilant regarding this potentially fatal complication. Gaucher disease type IIIC has been linked to causing oculomotor apraxia and cardiac calcification. We report a Saudi girl who developed valvular and aortic calcification in late childhood and died as a result of her cardiovascular complications. This report further strengthens the association and reminds the clinicians that patients with D409H mutation need echocardiographic evaluation annually.

Keywords: Gaucher disease, aortic calcification, D409H

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