Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type I

EA Braunlin, JM Berry, CB Whitley - The American journal of cardiology, 2006 - Elsevier
EA Braunlin, JM Berry, CB Whitley
The American journal of cardiology, 2006Elsevier
Mucopolysaccharidosis type I is a lethal autosomal recessive storage disease caused by a
deficiency of lysosomal α-l-iduronidase and the consequent systemic accumulation of
glycosaminoglycan. Cardiomyopathy and valvar insufficiency occur as glycosaminoglycan
accumulates in the myocardium, expands the spongiosa of cardiac valves, and proliferates
within the myointima of the epicardial coronary arteries. Congestive heart failure and death
occur within the first decade of life in the most severe cases. Allogeneic hematopoietic stem …
Mucopolysaccharidosis type I is a lethal autosomal recessive storage disease caused by a deficiency of lysosomal α-l-iduronidase and the consequent systemic accumulation of glycosaminoglycan. Cardiomyopathy and valvar insufficiency occur as glycosaminoglycan accumulates in the myocardium, expands the spongiosa of cardiac valves, and proliferates within the myointima of the epicardial coronary arteries. Congestive heart failure and death occur within the first decade of life in the most severe cases. Allogeneic hematopoietic stem cell transplantation, used in severe forms of the disease, markedly prolongs survival, alleviates ventricular hypertrophy, and preserves cardiac function, but cardiac valves continue to thicken and valvular insufficiency progresses. Enzyme replacement therapy with human recombinant α-l-iduronidase has been proposed as an alternativee therapy for patients with mucopolysaccharidosis type I in whom the risk/benefit ratio of hematopoietic stem cell transplantation seems unfavorable. The investigators report the cardiac findings in a small series of 5 children with mucopolysaccharidosis type I who received enzyme replacement therapy for as long as 7 years. No deaths occurred during treatment. Left ventricular hypertrophy, which was present before therapy, resolved in all cases, and myocardial function remained normal. In contrast, the mitral and aortic valves remained thickened and, in some instances, developed progressive thickening and regurgitation. In conclusion, long-term enzyme replacement therapy has some clear benefits for the myocardium, but the cardiac valves appear unresponsive, and the ultimate effect on the coronary vasculature is unknown.
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