title: Cardiovascular Abnormalities in Egyptian Children with Mucopolysaccharidoses.
abstract: BACKGROUND
  The Mucopolysaccharidoses (MPS) are rare inherited metabolic disorders. They are characterized by the progressive systemic deposition of Glycosaminoglycans (GAGs). GAGs accumulate in the myocardium and the cardiac valves. Enzyme Replacement Therapy (ERT) is available for MPS I, II, and VI. However, ERT does not appear to improve cardiac valve disease in patients with valve disease present at the start of ERT.
  
  
  OBJECTIVE
  To evaluate the cardiac involvement in Egyptian children with MPS.
  
  
  METHODS
  Echocardiograms (ECG) were done for 34 patients. Both quantitative and qualitative Glycosaminoglycans (GAGs) in urine and enzyme assay confirmed the diagnosis. Mitral, tricuspid and aortic valves were evaluated for increased thickness, regurgitation and/or stenosis, left ventricular chamber dimensions, septal and posterior wall thicknesses.
  
  
  RESULTS
  The patients' age ranged from 0.9-16 years (median age 4 years). They included 19 cases of MPS I (55.9%), 3 cases of MPS II (8.8%), 2 cases of MPS III (5.9%), 6 cases of MPS IV (17.6%) and 4 cases of MPS VI (11.8%). Heart murmur was heard in 9 of the participants (9/34) (26%). However, 15 patients (15/34) (44%) revealed cardiac lesions on ECG examinations. Mitral regurge (47%), followed by pulmonary hypertension (40%), were the most frequent findings.
  
  
  CONCLUSIONS
  The absence of Cardiac murmurs does not exclude the heart involvement. Cardiac valve dysfunction may not be reversible. Regular ECG should be routinely warranted in children with MPS and early ERT are recommended.
authors.affiliation: Professor, Department of Paediatrics, Faculty of Medicine, Cairo University , Cairo, Egypt .
authors.forename: Laila
authors.initials: L
authors.lastname: Selim
authors.affiliation: Researcher, Department of Paediatrics, National Research Center , Cairo, Egypt .
authors.forename: Nehal
authors.initials: N
authors.lastname: Abdelhamid
authors.affiliation: Professor, Department of Paediatrics, National Research Center , Cairo, Egypt .
authors.forename: Emad
authors.initials: E
authors.lastname: Salama
authors.affiliation: Consultant, Department of Paediatrics, Faculty of Medicine, Cairo University , Cairo, Egypt .
authors.forename: Amera
authors.initials: A
authors.lastname: Elbadawy
authors.affiliation: Research Assistant, Department of Paediatrics, Faculty of Medicine, Cairo University , Cairo, Egypt .
authors.forename: Iman
authors.initials: I
authors.lastname: Gamaleldin
authors.affiliation: Lecturer, Department of Clinical Pathology, Faculty of Medicine, Cairo University , Cairo, Egypt .
authors.forename: Mohamed
authors.initials: M
authors.lastname: Abdelmoneim
authors.affiliation: Researcher, Department of Paediatrics, National Research Center , Cairo, Egypt .
authors.forename: Abeer
authors.initials: A
authors.lastname: Selim
keywords: Echocardiography; Enzyme replacement theory; Paediatrics