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[Cardiac involvement in mucopolysaccharidosis. Apropos of an echocardiographic study in 8 cases]
Insights
Mucopolysaccharidosis cardiac involvement is often subtle clinically but significant echocardiographically. Valvular dystrophy, particularly on the left side, is the most common finding in these storage diseases.
Area of Science:
- Cardiology
- Genetics
- Rare Diseases
Background:
- Mucopolysaccharidosis (MPS) are rare genetic storage diseases with poorly understood cardiac implications.
- Cardiac involvement in MPS is often clinically silent, necessitating advanced diagnostic methods.
Purpose of the Study:
- To investigate the cardiac manifestations of mucopolysaccharidosis using echocardiography.
- To characterize the prevalence and nature of heart involvement in MPS patients, including Hunter disease.
Main Methods:
- Echocardiographic assessment of 8 patients with mucopolysaccharidosis.
- Clinical evaluation alongside detailed echocardiographic analysis of cardiac structures and function.
Main Results:
- Echocardiography revealed significant cardiac anomalies despite limited clinical symptoms.
- Valvular dystrophy, predominantly affecting the left heart, was observed in 5 patients.
- Lesions ranged from asymptomatic to causing stenosis or incompetence; one patient showed septal hypertrophy.
Conclusions:
- Echocardiography is crucial for detecting cardiac involvement in mucopolysaccharidosis.
- Valvular disease is the primary cardiac manifestation, impacting heart function.
- Vascular involvement, including coronary arteries, was not evident in this cohort.
Abstract:
Of all the storage diseases, mucopolysaccharidosis is the one whose cardiac manifestations are probably the least well known. Clinical and above all echocardiographic findings of heart involvement were studied in 8 patients with mucopolysaccharidosis, including four with Hunter disease. The paucity of clinical manifestations was in sharp contrast with the highly informative echocardiographic results. Valvular dystrophy, usually of the left side of the heart, was the most common anomaly, with five patients affected. Whereas some valvular lesions had no consequences, others led to stenosis or incompetence. Asymmetrical hypertrophy of the septum was found in one patient. No patient had evidence suggestive of vascular involvement, in particular of the coronary arteries.