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Severe mitral insufficiency in mucopolysaccharidosis type III-B (Sanfilippo syndrome)
J Muenzer1, R H Beekman, L M Profera
1Division of Biochemical Genetics, University of Michigan Medical School, Ann Arbor 48109.
Insights
A young girl with Sanfilippo syndrome (MPS III-B) experienced severe heart failure due to mitral regurgitation. Successful mitral valvuloplasty improved her condition, suggesting this surgical approach for MPS patients.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Mucopolysaccharidosis (MPS) III-B, also known as Sanfilippo syndrome, is a rare genetic disorder.
- Cardiac complications, including mitral regurgitation, can occur in MPS patients.
- Severe mitral regurgitation can lead to congestive heart failure, significantly impacting quality of life.
Observation:
- A 6-year-old girl diagnosed with MPS III-B presented with severe mitral regurgitation and congestive heart failure.
- The patient required surgical intervention for her cardiac condition.
Findings:
- The patient underwent mitral valvuloplasty, a surgical repair of the mitral valve.
- One year post-surgery, the patient demonstrated significant clinical improvement, with enhanced physical activity and resolution of heart failure symptoms.
- This case represents the second reported instance of severe mitral regurgitation in MPS III and the first documented successful mitral valvuloplasty in an MPS patient.
Implications:
- Mitral valvuloplasty is a viable and potentially superior surgical option compared to valve replacement for managing mitral regurgitation in MPS patients.
- Early consideration of mitral valvuloplasty may improve outcomes and quality of life for children with Sanfilippo syndrome and related cardiac issues.
- Further research into cardiac manifestations and surgical management in MPS is warranted.
Abstract:
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.