Aortic calcification in Gaucher disease: a case report

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...

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Autores principales: Alsahli, Saud, Bubshait, Dalal K, Rahbeeni, Zuhair A, Alfadhel, Majid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6199969/
https://www.ncbi.nlm.nih.gov/pubmed/30410382
http://dx.doi.org/10.2147/TACG.S180995
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author Alsahli, Saud
Bubshait, Dalal K
Rahbeeni, Zuhair A
Alfadhel, Majid
author_facet Alsahli, Saud
Bubshait, Dalal K
Rahbeeni, Zuhair A
Alfadhel, Majid
author_sort Alsahli, Saud
collection PubMed
description 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.
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spelling pubmed-61999692018-11-08 Aortic calcification in Gaucher disease: a case report Alsahli, Saud Bubshait, Dalal K Rahbeeni, Zuhair A Alfadhel, Majid Appl Clin Genet Case Report 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. Dove Medical Press 2018-10-17 /pmc/articles/PMC6199969/ /pubmed/30410382 http://dx.doi.org/10.2147/TACG.S180995 Text en © 2018 Alsahli et al. This work is published and licensed by Dove Medical Press Limited The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed.
spellingShingle Case Report
Alsahli, Saud
Bubshait, Dalal K
Rahbeeni, Zuhair A
Alfadhel, Majid
Aortic calcification in Gaucher disease: a case report
title Aortic calcification in Gaucher disease: a case report
title_full Aortic calcification in Gaucher disease: a case report
title_fullStr Aortic calcification in Gaucher disease: a case report
title_full_unstemmed Aortic calcification in Gaucher disease: a case report
title_short Aortic calcification in Gaucher disease: a case report
title_sort aortic calcification in gaucher disease: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6199969/
https://www.ncbi.nlm.nih.gov/pubmed/30410382
http://dx.doi.org/10.2147/TACG.S180995
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AT bubshaitdalalk aorticcalcificationingaucherdiseaseacasereport
AT rahbeenizuhaira aorticcalcificationingaucherdiseaseacasereport
AT alfadhelmajid aorticcalcificationingaucherdiseaseacasereport

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