Related Experiment Videos
Mitral and aortic regurgitation in 84 patients with mucopolysaccharidoses
C F Wippermann1, M Beck, D Schranz
1Children's Hospital, Johannes Gutenberg University, Mainz, Germany.
Unlabelled:
In echocardiographic and necropsy studies nodular thickening of the mitral valve and, less frequently, of the aortic valve has been found in 60%-90% of patients with mucopolysaccharidoses (MPS). Little is known about the haemodynamic consequences of these morphological changes. In this study 84 unselected patients with different enzymatically proven MPS and 84 age and sex matched, healthy persons were studied prospectively by colour Doppler flow mapping. The patients' age ranged from 1 to 47 years (median 8.1 years). Mitral and aortic regurgitation were defined as a holosystolic or holodiastolic jet originating from the valve into the left atrium or the left ventricular outflow tract, respectively, with peak velocities exceeding 2.5 m/s. Of the 84 patients with satisfactory studies, mitral regurgitation was detected in 64.3% and aortic regurgitation in 40.5%, respectively. Regurgitation was severe in 4.8% of mitral valves and 8.3% of aortic valves. The frequency of aortic and/or mitral regurgitation was 75% in all patients, 89% in MPS I, 94% in MPS II, 66% in MPS III, 33% in MPS IV, and 100% in MPS VI. Combined mitral and aortic regurgitation was present in 29% of our patients. None of the control persons showed mitral or aortic regurgitation.
Conclusion:
Aortic and mitral regurgitation are more frequent in patients with MPS than previously thought and that therefore these patients should have regular colour Doppler flow mapping and antibiotic prophylaxis when required.
Insights
Mucopolysaccharidoses (MPS) patients frequently experience mitral and aortic regurgitation. Regular Doppler monitoring and antibiotic prophylaxis are recommended for managing these cardiac complications in MPS.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Nodular thickening of heart valves is common in mucopolysaccharidoses (MPS).
- Hemodynamic effects of these valve changes in MPS are not well understood.
Purpose of the Study:
- To prospectively assess the prevalence and severity of mitral and aortic regurgitation in patients with MPS.
- To compare cardiac valve function in MPS patients with healthy controls.
Main Methods:
- Eighty-four patients with diagnosed MPS and 84 healthy controls underwent color Doppler flow mapping.
- Mitral and aortic regurgitation were defined by specific jet characteristics and velocities.
Main Results:
- Mitral regurgitation was found in 64.3% and aortic regurgitation in 40.5% of MPS patients.
- Overall, 75% of MPS patients had aortic and/or mitral regurgitation, with higher rates in specific MPS types (e.g., MPS II, MPS VI).
- Severe regurgitation was noted in a small percentage, and no regurgitation was observed in controls.
Conclusions:
- Aortic and mitral regurgitation are significantly more common in MPS patients than previously recognized.
- Regular color Doppler evaluation and appropriate antibiotic prophylaxis are crucial for managing cardiac complications in MPS.