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Calcification of Vascular Smooth Muscle Cells and Imaging of Aortic Calcification and Inflammation
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Aortic calcification in Gaucher disease: a case report

Saud Alsahli1,2, Dalal K Bubshait3, Zuhair A Rahbeeni4

  • 1Medical Genomic Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia, dralfadhelm@gmail.com.

The Application of Clinical Genetics
|November 10, 2018
PubMed

Insights

Gaucher disease can cause fatal cardiac issues, particularly in those with the D409H mutation. Annual echocardiograms are crucial for early detection and management of cardiovascular complications in these patients.

Area of Science:

  • Biochemistry
  • Genetics
  • Cardiology

Background:

  • Gaucher disease is a common sphingolipidosis affecting all ethnic groups.
  • Cardiovascular complications are a serious manifestation of Gaucher disease.
  • Gaucher disease type IIIC is associated with oculomotor apraxia and cardiac calcification.

Observation:

  • A Saudi girl with Gaucher disease developed severe valvular and aortic calcification in late childhood.
  • The patient succumbed to her cardiovascular complications.

Findings:

  • This case report reinforces the link between Gaucher disease, specifically the D409H mutation, and cardiac calcification.
  • The D409H mutation in Gaucher disease is associated with significant cardiovascular morbidity.

Implications:

  • Healthcare providers must be vigilant for cardiac complications in Gaucher disease patients.
  • Annual echocardiographic screening is recommended for patients with the D409H mutation to monitor for cardiac calcification.
  • Early detection and management of cardiovascular issues can improve outcomes for Gaucher disease patients.

Keywords:
D409HGaucher diseaseaortic calcification

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