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Mitral valve prolapse and mitral insufficiency in two siblings with Gaucher's disease
Images in Paediatric Cardiology
|February 28, 2012
Insights
Gaucher's disease, an inherited metabolic disorder, can affect heart valves. This report details two siblings with Gaucher's disease who experienced mitral valve issues, with one sibling succumbing to related complications.
Area of Science:
- Genetics and Genetic Diseases
- Cardiovascular Medicine
- Metabolic Disorders
Background:
- Gaucher's disease is an autosomal recessive lysosomal storage disorder.
- It results from deficient glucocerebrosidase activity, leading to substrate accumulation in various tissues.
- Cardiac involvement, though less common, can occur in Gaucher's disease.
Purpose of the Study:
- To report a rare presentation of Gaucher's disease in siblings.
- To highlight the association between Gaucher's disease and cardiac valve abnormalities.
- To document the clinical course and outcomes in affected individuals.
Main Methods:
- Case report of two siblings diagnosed with Gaucher's disease.
- Clinical evaluation including assessment of cardiac function.
- Review of medical history and outcomes.
Main Results:
- Both siblings presented with Gaucher's disease.
- Both siblings exhibited mitral valve prolapse and mitral insufficiency.
- One sibling experienced fatal complications including bacterial endocarditis and pneumonia.
- The second sibling remains under ongoing medical observation.
Conclusions:
- Gaucher's disease may be associated with significant cardiac valvular pathology.
- Early recognition and management of cardiac complications are crucial in patients with Gaucher's disease.
- This case series underscores the systemic impact of Gaucher's disease, extending to cardiovascular health.
Abstract:
Gaucher's disease is an autosomal recessive storage disorder. We report two siblings with Gaucher's disease, both of which had mitral valve prolapse and mitral insufficiency. One of the siblings died of bacterial endocarditis and pneumonia, while the other continues under followup.
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