Left Ventricular Aneurysm Associated With Mucopolysaccharidosis Type VI Syndrome (Maroteaux–Lamy Syndrome)

Abstract

A 22-year-old man was diagnosed with mucopolysaccharidosis type VI (MPS VI) when he was 2 years old, and he developed several complications of long-standing MPS VI. He had not been treated with enzyme-replacement therapy (not an approved therapy in Canada). Because of persistent dyspnea and poor exercise tolerance (New York Heart Association class III), he was investigated for cardiac disease. He had no risk factors for coronary artery disease, his 12-lead ECG showed a normal sinus rhythm with no Q waves, and there were no elevations in serum creatine kinase-MB, troponin I, or lactate dehydrogenase. Transthoracic echocardiography showed mildly thickened aortic and mitral valves and a grade 2 left ventricle with a well-delineated, thin-walled apical aneurysm measuring 2.6×2.9 cm (Figure 1A). Review of previous echocardiograms suggested that the left ventricular …