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Cardiovascular studies in the mucopolysaccharidoses.
J Nelson1, M D Shields, H C Mulholland
1Department of Medical Genetics, Belfast City Hospital.
Journal of Medical Genetics
|February 1, 1990
Summary
Cardiovascular disease in mucopolysaccharidosis (MPS) may be overestimated. Echocardiography revealed cardiac thickening due to mucopolysaccharide deposition, not true hypertrophy, with less valvular involvement than previously reported.
Area of Science:
- Cardiology
- Genetics
- Biochemistry
Background:
- Mucopolysaccharidoses (MPS) are a group of rare genetic disorders.
- Cardiovascular complications are frequently reported in MPS patients.
- Previous studies suggested high incidence of cardiac involvement in MPS.
Purpose of the Study:
- To investigate cardiovascular findings in patients with mucopolysaccharidosis.
- To differentiate between infiltrative cardiomyopathy and true ventricular hypertrophy in MPS.
- To assess the extent of valvular involvement in MPS.
Main Methods:
- Echocardiography was performed on 22 patients with MPS.
- Electrocardiography (ECG) and chest X-ray were utilized.
- Patients were identified through an epidemiological study.
Main Results:
- Echocardiography showed interventricular septum and left ventricular posterior wall thickening.
- Reduced QRS voltages were observed in 77% of patients.
- Reduced shortening fraction was noted in 33% of patients, suggesting infiltrative cardiomyopathy rather than hypertrophy.
- Minimal valvular thickening was observed, with no aortic valve disease in Morquio's disease type A.
Conclusions:
- Cardiac thickening in MPS is likely due to mucopolysaccharide deposition (infiltrative cardiomyopathy).
- Clinically significant cardiovascular disease and valvular involvement in MPS may be less common than previously thought.
- The incidence of clinically significant cardiovascular disease in mucopolysaccharidosis has likely been overestimated.