Combined aortic and mitral valve replacement in an adult with mucopolysaccharidosis (Maroteaux-Lamy syndrome)

A 41-year-old man with aortic stenosis, mitral stenosis, and tricuspid regurgitation due to Maroteaux-Lamy syndrome underwent aortic and mitral valve replacement with tricuspid annuloplasty. The annular diameter of the aortic and mitral valves was extremely small. The valve prostheses were 19 mm in diameter in the aortic position and 25 mm in the mitral position. Histologically, the valves showed thickening and hyalinization of the collagen fibers, and the presence of foamy cells that contained a large quantity of pure acid mucopolysaccharide. On an echocardiographic examination performed 2 years after the surgery, the peak systolic gradient of the trans-aortic valve was 18 mmHg at rest, and 26 mmHg during exercise. Careful observation of the residual pressure gradient will be needed. The patient's present New York Heart Association (NYHA) status is grade I and he has returned to work.