Mucopolysaccharidosis presenting as pediatric multiple aortic aneurysm: First reported case

Abstract

Within the pediatric population, the rare aortic aneurysm is most often brought on by congenital cardiovascular malformation or connective tissue disorder, trauma, inflammatory disease, or infection. Thus our 8-year-old patient who had multiple aortic aneurysms and evidence of mucopolysaccharidosis presented a doubly unique case. Three and one-half months after the patient underwent emergency aortic valve replacement, we performed resection and graft replacement of both her descending thoracic aorta and thoracoabdominal aorta. Histologic analysis of the aneurysm wall displayed severe medial degeneration with large deposits of acid mucopolysaccharides. Subsequent evaluation, although negative for connective tissue disorders, showed glycosaminoglycans, chondroitin sulfate, and heparan sulfate in the patient's urine. These findings are diagnostic for a heterogeneous group of storage diseases termed mucopolysaccharidoses, although testing of the patient's cultured fibroblasts failed to reveal any specific previously described enzymatic defect. After reviewing the literature, we believe that this is the first known successfully treated pediatric aortic aneurysm associated with mucopolysaccharidosis.

Widespread Vasculopathy in a Patient with Morquio A Syndrome

“…4,5 Given that long-term data on cardiovascular findings in patients with Morquio syndrome are scarce, our report on one of the oldest patients with the condition indicates that noninvasive imaging for the initial evaluation and monitoring of vasculopathy in these individuals may be appropriate. In addition, although we were unable to evaluate the potential impact of enzyme replacement therapy on our patient's diffuse vasculopathy, further studies are warranted to determine whether such therapy is beneficial and to better characterize the natural history of cardiovascular disease in this population.…”

“…2,7 Vascular disease has also been described in these patients, although it was not present to the extent seen in our patient. 4,5,8 There appears to be a subset of patients with Morquio A syndrome who develop vascular disease, but the actual mechanism of the vascular changes is not known. One potential explanation is that collagen dysplasia of the vessels occurs secondary to the progressive changes in the collagen related to the skeletal system.…”

Clinical characterization of cardiovascular abnormalities associated with feline mucopolysaccharidosis I and VI

“…Aortic aneurysms in the paediatric population are rare; however, they have been reported in a child affected with an unclassified MPS (Engle et al 1997). MPS was presumed because chondroitin sulfate and heparan sulfate were detected with urine electrophoresis, but a definitive diagnosis of MPS type was not reported.…”

Possible Mechanical Roles of Glycosaminoglycans in Thoracic Aortic Dissection and Associations with Dysregulated Transforming Growth Factor-β

“…[65–68]). Of particular note herein, accumulation of GAGs in mucopolysaccharidosis has been associated with aortic aneurysms [69,70]. There have also been reports of significant increases in hyaluronan and dermatan sulfate GAGs in dissecting aortas [5] and significant increases in versican in ascending aortic aneurysms, with no significant increases in biglycan [71].…”