Diastolic function and valvar involvement in Mucopolysaccharidosis and Mucolipidosis

  • Dr June Huh, Samsung Medical Center, Department of Pediatrics, Sungkyunkwan University School of Medicine, Korea
  • Dr Soo In Jeong, Samsung Medical Center, Department of Pediatrics, Sungkyunkwan University School of Medicine, Korea
  • Dr I-Seok Kang, Samsung Medical Center, Department of Pediatrics, Sungkyunkwan University School of Medicine, Korea
  • Dr Heung Jae Lee, Samsung Medical Center, Department of Pediatrics, Sungkyunkwan University School of Medicine, Korea
  • Dr Kyung Hoon Paik, Samsung Medical Center, Department of Pediatrics, Sungkyunkwan University School of Medicine, Korea
  • Dr Dong Kyu Jin, Samsung Medical Center, Department of Pediatrics, Sungkyunkwan University School of Medicine, Korea
  • Dr Hye Sun Hyun, Department of Pediatrics, Samsung Medical Center, SungKyunKwan University School of Medicine, Seoul,, Korea

    • Objective: This study was aimed to evaluate ventricular diastolic function as well as valvar involvement in Mucopolysaccharidosis (MPS) and Mucolipidosis.
    Methods: Forty six patients were enrolled (10 patients with MPS I, 27 with MPS II, 2 with MPS III, and 2 with MPS IV, 5 with Mucolipidosis). The mean age was 11.8 years with a range of 2.5 - 32 years. Echocardiographic measurements were preformed.
    Results: Mitral regurgitation was common (mild degree 27, moderate 7, severe 1) and mitral stenosis in 7 patients. Aortic valve involvement were noted in 19 with aortic regurgitation (minimal 11, mild 7, moderate 1), and 7 with aortic stenosis. Mitral valve prolapse was detected in 23 with variable insufficiency. Thickening of mitral valves was noted in 44 and thickening of aortic valves in 40. There was no significant difference of valvar involvement according to subtypes. All showed hypertrophy of both ventricles with normal ventricle dimensions. Deceleration time of left ventricle > 150 msec was recorded in 28 patients. E/A ratio > 1.5 was recorded in 8 patients. E/E’ ratio was high in 31 patients (11 patients with 8=15).
    Conclusions: Diastolic dysfunction of left ventricle as well as valvar involvement in MPS and Mucolipidosis is common. Regular echocardiography is necessary to assess valvar and ventricular function and subsequently to provide early appropriate treatment.