Related Experiment Videos
Echocardiographic abnormalities in type IV mucopolysaccharidosis
R M John1, D Hunter, R H Swanton
1Department of Cardiology, Middlesex Hospital, London.
Archives of Disease in Childhood
|July 1, 1990
Summary
Cardiac abnormalities are common in Morquio syndrome (type IV mucopolysaccharidosis), often affecting heart valves silently. Echocardiography is recommended for early detection and management of these cardiovascular issues.
Area of Science:
- Cardiology
- Genetics
- Rare Diseases
Background:
- Cardiac involvement is recognized in mucopolysaccharidoses.
- Documentation of cardiac abnormalities in Morquio syndrome (type IV mucopolysaccharidosis) is limited.
Purpose of the Study:
- To investigate the prevalence and nature of cardiac abnormalities in patients with Morquio syndrome.
- To assess the utility of echocardiography in identifying cardiac involvement.
Main Methods:
- Echocardiographic assessment was performed on ten patients with classic or type A Morquio syndrome.
- Patients had a median age of 12.5 years.
Main Results:
- Cardiac abnormalities were detected in 60% of patients (6 out of 10).
- Mitral valve disease occurred in 5 patients, and aortic valve disease in 4.
- Myocardial involvement (ventricular hypertrophy) was noted in 2 patients; lesions were hemodynamically mild.
- Cardiac murmurs were audible in only 3 affected patients.
Conclusions:
- There is a high prevalence of silent cardiac abnormalities in Morquio syndrome, primarily affecting left-sided valves.
- Echocardiography should be a routine part of patient assessment.
- Bacterial endocarditis prophylaxis is advised for patients with identified cardiac abnormalities.