Related Experiment Videos
Cardiovascular changes in children with mucopolysaccharide disorders
U R Mohan1, A A Hay, M A Cleary
1Departments of Paediatric Cardiology and Paediatric Metabolic Medicine (Willink Biochemical Genetics Unit), Royal Manchester Children's Hospital, Hospital Road, Pendelbury, Manchester, UK. uthara_mohan@hotmail.com
Acta Paediatrica (Oslo, Norway : 1992)
|August 31, 2002
Summary
Cardiac abnormalities are common in mucopolysaccharidoses (MPS). Serial echocardiograms are crucial for monitoring ventricular function and disease progression in MPS patients, as cardiac issues significantly impact mortality.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Mucopolysaccharidoses (MPS) are a group of rare genetic disorders characterized by the deficiency of lysosomal enzymes, leading to the accumulation of glycosaminoglycans.
- Cardiac involvement, particularly valvular abnormalities, is a frequent complication in MPS, impacting patient morbidity and mortality.
Purpose of the Study:
- To evaluate cardiac involvement, including valvular abnormalities, in patients with different types of MPS.
- To assess risk factors for mortality and define the age-related outcome of cardiac abnormalities in MPS.
- To determine the significance of serial echocardiograms in managing cardiac complications in MPS.
Main Methods:
- Retrospective review of echocardiograms from 99 patients with MPS, aged 1-24 years, between 1978 and 2000.
- Analysis of mitral regurgitation (MR) and aortic regurgitation (AR) prevalence and types of MPS.
- Statistical analysis of risk factors for mortality, including age, ejection fraction, and specific MPS types.
Main Results:
- Mitral regurgitation (MR) was detected in 29% of patients, most common in MPS I, II, and III.
- Aortic regurgitation (AR) was observed in 16%, predominantly in MPS II and IV.
- Cardiac abnormalities developed in 65% of patients undergoing serial echocardiograms, showing a significant association with age.
Conclusions:
- Increasing age, MPS I, and impaired ejection fraction are significant risk factors for death in MPS patients.
- While mitral valve lesions are common, they are not significant risk factors for mortality; aortic valve abnormalities show borderline significance.
- Serial echocardiography is essential for monitoring ventricular function and the progression of cardiac abnormalities in MPS.