Left ventricular aneurysm, aortic valve disease and coronary narrowing in a patient with Hunterʹs syndrome

Hunterʹs syndrome (mucopolysaccharidosis type 2, MPS 2) is an inherited disorder of glycosaminoglycan degradation commonly associated with cardiac disease. We present the case of a young man with unusual cardiac manifestations of this syndrome. When mixed aortic valve disease was noted in childhood, other classical features of the milder form of Hunterʹs syndrome were present. There was no symptomatic or echocardiographic cardiovascular deterioration until age 27 when the patient presented in severe biventricular failure. Investigations demonstrated cardiomegaly and a large apical left ventricular aneurysm. The patient died suddenly soon after this diagnosis. Post mortem examination demonstrated a hypertrophied left ventricle with a 6-cm apical aneurysm. Coronary arterial walls were diffusely thickened but with only mild lumenal stenosis. Mitral and aortic valve disease was also present. There is one previous report of ventricular aneurysm in Hunterʹs syndrome. Pathophysiological contributions to aneurysm formation may include abnormal coronary flow, the presence of aortic stenosis and abnormal myocardium. This patientʹs sudden deterioration after a long period of clinical stability reinforces the need for careful follow-up of patients with cardiac manifestations of Hunterʹs disease.