Anesthesia in a child with Maroteaux-Lamy syndrome undergoing mitral valve replacement

Mucopolysaccharidoses (MPSs) are a group of metabolic diseases transmitted in an autosomal recessive fashion. MPSs are due to deficiencies of the specific enzymes responsible for the catabolism of dermatan sulfate, heparin sulfate, and keratan sulfate, resulting in the accumulation of glycosaminoglycans (GAGs). MPSs have a chronic, progressive course with multisystemic involvement. The incidence of MPSs is approximately 1/50,000 (1). As GAGs begin to accumulate in lysosomes, functional disturbances occur in cells, tissues, and organs. Diagnosis is based on elevated mucopolysaccharide levels in the urine and enzyme deficiencies in the serum or in fibroblast cultures (2). MPS type VI (Maroteaux-Lamy syndrome) is characterized by a deficiency of N-acetylgalactosamine-4-sulfatase, which is responsible for the catabolism of dermatan sulfatase. The clinical features of MPSs include coarse face, short stature, kyphoscoliosis, upper airway thickening, hearing loss, corneal opacity, hepatosplenomegaly (3), and symptoms that vary according to the GAG accumulation sites (1). Sinus tachycardia, atrial dilatation, valve involvement, endocarditis, myocarditis, and ventricular aneurysms might be observed due to cardiovascular system involvement (4,5). In contrast to the other types of MPSs, there is no mental retardation in patients with MPS type VI. There are only a limited number of reports of heart surgery in patients with MPSs (6,7). To the best of our knowledge, the literature is devoid of any reports of pediatric patients with Maroteaux-Lamy syndrome undergoing valve replacement surgery. Herein, we present the anesthetic management of a pediatric patient with Maroteaux-Lamy syndrome during mitral valve replacement surgery and a discussion based on the literature.