Aortic calcification in Gaucher disease: a case report

Appl Clin Genet. 2018 Oct 17;11:107-110. doi: 10.2147/TACG.S180995. eCollection 2018.


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: D409H; Gaucher disease; aortic calcification.

Publication types

  • Case Reports