Severe mitral insufficiency in mucopolysaccharidosis type III-B (Sanfilippo syndrome)
- 48 Downloads
A 6-year-old girl with mucopolysaccharidosis (MPS) III-B (Sanfilippo syndrome) who developed severe mitral regurgitation and congestive heart failure requiring surgery (valvuloplasty) is reported. One year after surgery the patient remains well, with marked improvement in her physical activity, and without signs of heart failure. This is only the second report of severe mitral regurgitation in MPS III, and is the first report of a successful repair (valvuloplasty) of a dysplastic mitral valve in the MPS. Mitral valvuloplasty should be considered instead of valve replacement in any MPS patient with mitral valve regurgitation requiring surgery.
Key WordsMucopolysaccharidoses Sanfilippo syndrome Mitral regurgitation Congestive heart failure Valvuloplasty
Unable to display preview. Download preview PDF.
- 1.Gross DM, Williams JC, Caprioli C, Dominguez B, Howell R (1988) Echocardiographic abnormalities in the mucopolysaccharide storage diseases.Am J Cardiol 61:170–176Google Scholar
- 2.Herd JK, Subramanian S, Robinson H (1973) Type III mucopolysaccharidosis: Report of a case with severe mitral valve invovement.J Pediatr 82:101–104Google Scholar
- 3.Neufeld EF, Muenzer J (1989) The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds)The metabolic basis of inherited disease, 6th ed, McGraw-Hill, New York, pp 1565–1587Google Scholar
- 4.Pyeritz RE (1983) Cardiovascular manifestations of heritable disorders of connective tissue In: Steinberg AG, Bearn AG, Molutsky AG, Childs B (eds.)Progress in medical genetics new series, vol 5. WB Saunders, Philadelphia, pp 191–302Google Scholar