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Endocardial fibroelastosis in mucopolysaccharidosis type VI
Clinical Cardiology
|June 1, 1987
Summary
Two infants presented with severe dilated cardiomyopathy, later diagnosed with mucopolysaccharidosis type VI. Cardiac issues preceded other symptoms, highlighting the importance of metabolic evaluations for cardiomyopathy.
Area of Science:
- Pediatric Cardiology
- Metabolic Disorders
- Genetics
Background:
- Dilated cardiomyopathy in infants can have various etiologies.
- Early diagnosis of rare genetic disorders is crucial for management.
- Mucopolysaccharidoses are a group of inherited metabolic diseases.
Observation:
- Two siblings under one year old presented with severe dilated cardiomyopathy.
- Peripheral blood examination showed neutrophil granularity suggestive of mucopolysaccharidosis type VI.
- No overt physical features of mucopolysaccharidosis were initially present.
Findings:
- Biochemical evaluation confirmed mucopolysaccharidosis type VI in both siblings.
- Autopsy in one sibling revealed endocardial fibroelastosis.
- Myocardial fibroblast electron microscopy showed vacuoles consistent with mucopolysaccharidosis.
Implications:
- Endocardial fibroelastosis can be an early manifestation of mucopolysaccharidosis type VI.
- Cardiomyopathy may be the initial presenting sign of metabolic diseases in children.
- Screening for metabolic disorders is vital in pediatric cardiomyopathy cases.