title: Effects of bone marrow transplantation on the cardiovascular abnormalities in canine mucopolysaccharidosis VII.
abstract: The genetic mucopolysaccharidoses (MPS) are a family of lysosomal storage diseases resulting from defective catabolism of glycosaminoglycans (GAGs). Echocardiographic abnormalities in dogs with MPS type VII (Sly syndrome, beta-glucuronidase deficiency) included mitral valve thickening and insufficiency, large aortic dimensions in both the long and short axes, and thickened aortic valves. Grossly, at post mortem examination, there was nodular thickening of the mitral valve, a prominent ductus diverticulum, and a dilated aorta with thickened walls. Histologically, cytoplasmic vacuolation was seen in cells of the mitral valves, coronary arteries, and aorta. By electron microscopy, the cells of the mitral valve were packed with electron-lucent cytoplasmic vacuoles. The mean residual activity of beta-glucuronidase in the aorta and myocardium was <1% of normal, the mean hexosaminidase A activity >2. 5 times normal, and the mean GAG concentrations more than twice normal. In three MPS VII dogs that received heterologous BMT at 6 weeks of age, the echocardiographic abnormalities were improved, and the histopathologic and ultrastructural pathology was reduced. In the aorta and myocardium, the mean beta-glucuronidase activity of the BMT group was 4.5% and 11% of normal, respectively, and the hexosaminidase A activity and GAG concentrations were normalized. Bone Marrow Transplantation (2000) 25, 1289-1297.
authors.affiliation: Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
authors.forename: C
authors.initials: C
authors.lastname: Sammarco
authors.forename: M
authors.initials: M
authors.lastname: Weil
authors.forename: C
authors.initials: C
authors.lastname: Just
authors.forename: S
authors.initials: S
authors.lastname: Weimelt
authors.forename: C
authors.initials: C
authors.lastname: Hasson
authors.forename: T
authors.initials: T
authors.lastname: O'Malley
authors.forename: S M
authors.initials: SM
authors.lastname: Evans
authors.forename: P
authors.initials: P
authors.lastname: Wang
authors.forename: M L
authors.initials: ML
authors.lastname: Casal
authors.forename: J
authors.initials: J
authors.lastname: Wolfe
authors.forename: M
authors.initials: M
authors.lastname: Haskins
mesh_terms: D000818:Animals; D016026:Bone Marrow Transplantation; D018376:Cardiovascular Abnormalities / Q000209:etiology / Q000473:pathology / Q000503:physiopathology* / Q000628:therapy*; D004285:Dogs; D008854:Microscopy, Electron; D016538:Mucopolysaccharidosis VII / Q000150:complications / Q000503:physiopathology*