Laila Selim1, Nehal Abdelhamid2, Emad Salama3, Amera Elbadawy4, Iman Gamaleldin5, Mohamed Abdelmoneim6, Abeer Selim2. 1. Professor, Department of Paediatrics, Faculty of Medicine, Cairo University , Cairo, Egypt . 2. Researcher, Department of Paediatrics, National Research Center , Cairo, Egypt . 3. Professor, Department of Paediatrics, National Research Center , Cairo, Egypt . 4. Consultant, Department of Paediatrics, Faculty of Medicine, Cairo University , Cairo, Egypt . 5. Research Assistant, Department of Paediatrics, Faculty of Medicine, Cairo University , Cairo, Egypt . 6. Lecturer, Department of Clinical Pathology, Faculty of Medicine, Cairo University , Cairo, Egypt .
Abstract
INTRODUCTION: 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. AIM: To evaluate the cardiac involvement in Egyptian children with MPS. MATERIALS AND 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. CONCLUSION: 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.
INTRODUCTION: 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. AIM: To evaluate the cardiac involvement in Egyptian children with MPS. MATERIALS AND 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. CONCLUSION: 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: Leonie van den Broek; Ad P C M Backx; Hans Coolen; Frits A Wijburg; Ron Wevers; Eva Morava; Chris Neeleman Journal: Pediatrics Date: 2011-04-04 Impact factor: 7.124
Authors: Raymond Y Wang; Elizabeth A Braunlin; Kyle D Rudser; Donald R Dengel; Andrea M Metzig; Kelly K Covault; Lynda E Polgreen; Elsa Shapiro; Julia Steinberger; Aaron S Kelly Journal: Mol Genet Metab Date: 2013-11-12 Impact factor: 4.797
Authors: Marion M M G Brands; Ingrid M Frohn-Mulder; Marloes L C Hagemans; Wim C J Hop; Esmee Oussoren; Wim A Helbing; Ans T van der Ploeg Journal: J Inherit Metab Dis Date: 2012-01-26 Impact factor: 4.982