Abstract
Mucolipidosis type III α/β is an autosomal recessive lysosomal storage disease, caused by the deficient activity of UDP-N-acetyl glucosamine-1-phosphotransferase. The resultant intralysosomal accumulation of partly degraded mucopolysaccharides and sphingolipids causes multiple-organ damage, including the heart. The most documented cardiac manifestation is the thickening and insufficiency of mitral and aortic valves, but there are very few reports about the myocardial involvement. We report a case with mucolipidosis type III α/β complicated by marked dilatation and dysfunction of the right ventricle, which is quite rare and further broadens the clinical spectrum of the disease.
Copyright © 2020 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.
Publication types
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Case Reports
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Video-Audio Media
MeSH terms
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Adult
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Aortic Valve Insufficiency* / diagnostic imaging
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Aortic Valve Insufficiency* / etiology
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Cardiomegaly* / diagnostic imaging
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Cardiomegaly* / etiology
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Dilatation, Pathologic
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Diuretics / administration & dosage*
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Echocardiography / methods
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Heart Ventricles* / diagnostic imaging
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Heart Ventricles* / pathology
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Heart Ventricles* / physiopathology
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Humans
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Magnetic Resonance Imaging, Cine / methods
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Male
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Mucolipidoses / diagnosis
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Organ Size
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Patient Care Management / methods
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Pulmonary Valve Insufficiency* / diagnostic imaging
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Pulmonary Valve Insufficiency* / etiology
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Pulmonary Valve Insufficiency* / physiopathology
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Ventricular Dysfunction, Right* / diagnosis
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Ventricular Dysfunction, Right* / etiology
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Ventricular Dysfunction, Right* / physiopathology
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Ventricular Dysfunction, Right* / therapy