Muenzer J, Beekman R H, Profera L M, Bove E L
Division of Biochemical Genetics, University of Michigan Medical School, Ann Arbor 48109.
Pediatr Cardiol. 1993 Mar;14(2):130-2. doi: 10.1007/BF00796996.
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.
本文报告了一名6岁患有Ⅲ - B型黏多糖贮积症（MPS，即Sanfilippo综合征）的女孩，她出现了严重的二尖瓣反流和充血性心力衰竭，需要进行手术（瓣膜成形术）。术后一年，患者状况良好，体力活动有显著改善，且无心力衰竭迹象。这是关于MPSⅢ型中严重二尖瓣反流的第二篇报道，也是首例成功修复MPS发育异常二尖瓣（瓣膜成形术）的报道。对于任何因二尖瓣反流需要手术的MPS患者，应考虑二尖瓣成形术而非瓣膜置换术。
