Chest
Combined Aortic and Mitral Valve Replacement in an Adult with Scheie's Disease
Section snippets
Case Report
A 42-year-old woman with Scheie's disease, documented by high levels of chondroitin sulfate B in the urine and typical clinical features, was admitted for diagnostic studies after recent admissions for chest pain and congestive heart failure. Physical examination was notable for auscultatory findings compatible with significant aortic and mitral stenosis. A faint murmur of aortic insufficiency was also present. The remainder of the history and physical examination was significant for blindness
DISCUSSION
Cardiac involvement in the mucopolysaccharidoses is common and has been reported in all forms.1, 2, 3, 4 Echocardiographic abnormalities in these storage diseases have been reported, with patchy thickening of the valves and other associated echocardiographic abnormalities noted.4, 5, 6 Scheie's syndrome has been associated with mitral and aortic valve involvement, either stenotic, insufficient, or both.5
The clinical manifestations of Scheie's disease include corneal clouding and mild to
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Mucopolysaccharidosis: an unusual cause of cardiac valvular disease.
Am J Cardiol
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A newly recognized forme fruste of Hurler's disease (Gargoylism).
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Cited by (32)
Genetic Infiltrative Cardiomyopathies
2018, Heart Failure ClinicsCitation Excerpt :Approximately 50% to 60% of patients have valvular regurgitation in at least 1 valve, and all patients have abnormal valves. Valve replacement in MPS is common but can be challenging given concomitant respiratory compromise seen in many MPS patients.63,64 Impaired systolic function is less common but present.65,66
Outcome of Combined Mitral and Aortic Valve Replacement in Adults With Mucopolysaccharidosis (the Hurler Syndrome)
2017, American Journal of CardiologyInfiltrative Cardiovascular Diseases. Cardiomyopathies That Look Alike
2010, Journal of the American College of CardiologyCitation Excerpt :Enzyme assays (testing a variety of cells or body fluids in culture for enzyme deficiency) are also used to provide definitive diagnosis of 1 of the mucopolysaccharidoses. Valve replacement has been successful in patients with severe mitral valve disease (58,59). Enzyme replacement therapy and bone marrow transplantation showed improvements in cardiac structure and function in both human and animal studies (60,61).
Left ventricular aneurysm, aortic valve disease and coronary narrowing in a patient with Hunter's syndrome
2002, Cardiovascular PathologyGenetic and Metabolic Causes of Arterial Disease
1993, Annals of Vascular SurgeryEchocardiographic study of paediatric patients with mucopolysaccharidosis
2010, Cardiology in the Young