Left ventricular aneurysm in a patient with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): clinical and pathological correlation

A 22-year-old man was diagnosed with mucopolysaccharidosis type VI, also known as Maroteaux-Lamy syndrome, which is a known cause of cardiac valvular disease. He presented with exercise intolerance and was diagnosed with a large, apical, left ventricular aneurysm (LV aneurysm) and subsequently underwent left ventricular aneurysmectomy with improvement in clinical status. Previous echocardiograms revealed that the LV aneurysm was new and is, therefore, likely acquired rather than congenital. Pathology confirmed a true aneurysm, replacement fibrosis, and PAS-positive material in cardiomyocytes. Subsequent echocardiography revealed progression of valvular heart disease with moderate stenosis of the aortic and mitral valves. We propose that altered metabolism of glycosaminoglycans in the extracellular matrix may have contributed to the development of the LV aneurysm in this patient. (c) 2007 Elsevier Inc. All rights reserved.