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Extensive vascular and valvular involvement in Gaucher disease

Gokhan Altunbas1, Suleyman Ercan2, Ibrahim Halil Inanç3

  • 1Department of Cardiology, Gaziantep University, School of Medicine, Gaziantep, Turkey.

Asian Cardiovascular & Thoracic Annals
|June 3, 2014
PubMed

Insights

Gaucher disease can cause severe vascular and valvular calcification in young patients, leading to sudden cardiac events. Early surgical referral is crucial for symptomatic severe valvular disease.

Area of Science:

  • Cardiology
  • Genetics
  • Rare Diseases

Background:

  • Gaucher disease is a rare genetic disorder.
  • Type III Gaucher disease presents with neurological and systemic manifestations.
  • Vascular and valvular calcification is an under-recognized complication.

Purpose of the Study:

  • To highlight the association between Gaucher disease and extensive calcification.
  • To emphasize the potential for rapid, fatal cardiac events.
  • To advocate for early surgical intervention in affected patients.

Main Methods:

  • Case report of a 17-year-old patient with type III Gaucher disease.
  • Diagnostic imaging included echocardiography and 3D computed tomography.
  • Clinical course and outcome were documented.

Main Results:

  • The patient presented with syncope and severe aortic and mitral stenosis.
  • Extensive calcification of the aorta (ascending, arcus, abdominal) was observed.
  • Despite medical efforts, the patient experienced bradycardia, cardiogenic shock, and died within 8 hours.

Conclusions:

  • Gaucher disease must be considered in young patients with unexplained vascular and valvular calcification.
  • Prompt surgical evaluation is essential for patients with symptomatic severe valvular disease.
  • This case underscores the critical, life-threatening cardiovascular impact of Gaucher disease.

Keywords:
Aortic valve stenosiscalcinosisfatal outcomegaucher diseasemitral valve stenosis

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