From 1991 to 2002, we managed 72 patients with mucopolysaccharidoses. We retrospectively reviewed the records of 37 for whom detailed physical findings and cardiovascular evaluation were available. Twenty patients had serial electrocardiographic (ECG) examinations, and none had arrhythmias. All 20 patients had low R wave voltage in V6. One type VI patient had ischaemic changes secondary to severe cardiomyopathy at the terminal stage of her disease. Among the 37 patients in whom echocardiography was performed, cardiovascular abnormalities progressed with age, although most had mild clinical signs and symptoms. The most common changes were abnormalities of the mitral and aortic valves hypertrophy of the interventricular septum, especially in types I, II, and VI. During the follow-up period of up to 5 years, 3 type II patients and I type VI patient expired. In at least 3 of these patients, death was related to cardiopulmonary failure. As MPS patients are surviving longer, complete cardiac evaluation at regular intervals is mandatory and should be part of their routine assessment.

HUT can be safely performed with a high specificity in children, with the sensitivity of HUT improved by isoproterenol. Therefore, a positive response to treatment is reassuring to the physician and family. NCS is generally a self-limited condition despite a high recurrence rate.

An 11-year-old boy, who underwent bicaval orthotopic heart transplantation for idiopathic dilated cardiomyopathy, had a focal atrial tachycardia originating from the donor superior vena cava. The pathogenesis of this tachycardia may be related to transplant rejection or transplant vasculopathy. Radiofrequency catheter ablation can eliminate this unique tachycardia and result in hemodynamic improvement.

We describe a neonate with VACTERL association and right-sided congenital diaphragmatic hernia (CDH). Such coexistence is rare. The lack of symptoms during the early neonatal period, the absence of bowel loops herniated into the right thoracic cavity, and an unfinished surgery led to clinical and radiological diagnostic difficulties. Respiratory distress occurred when the patient was 2 months old. Chest radiology plain film revealed typical findings of right-sided CDH. The diagnosis was confirmed after surgical exploration.