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Gaucher disease with communicating hydrocephalus and cardiac involvement

N Cindik1, F Ozcay, D Süren

  • 1Division of Pediatric Cardiology, Baskent University Hospital, Ankara, Turkey. kursatokel@baskent-ank.edu.tr

Clinical Cardiology
|October 10, 2009
PubMed

Insights

A severe Gaucher disease mutation (D409H) caused fatal cardiac issues in a young patient. Early identification of this mutation is crucial for timely enzyme replacement and cardiac surgery.

Area of Science:

  • Genetics
  • Cardiology
  • Pediatrics

Background:

  • Gaucher disease is a rare genetic disorder.
  • The D409H mutation is a known variant associated with Gaucher disease.
  • Cardiac involvement can be a severe manifestation of Gaucher disease.

Observation:

  • A 14-year-old female with Gaucher disease presented with hydrocephalus, corneal opacities, cirrhosis, and cardiac valvular involvement.
  • A homozygous D409H mutation was identified in the patient.
  • The patient underwent surgery for aortic and mitral valve replacement, but severe aortic root calcification prevented successful valve replacement.

Findings:

  • The homozygous D409H mutation led to life-threatening cardiac abnormalities.
  • The patient died three days after exploratory cardiac surgery due to complications.

Implications:

  • Cardiac abnormalities are a critical and potentially fatal presentation of the homozygous D409H Gaucher disease mutation.
  • Early identification of the D409H mutation is essential for initiating appropriate enzyme replacement therapy.
  • Prompt cardiac evaluation and surgical planning are vital for managing Gaucher disease patients with cardiac involvement.

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