Turk Kardiyol Dern Ars. Ahead of Print: TKDA-44502 | DOI: 10.5543/tkda.2019.44502
Cardiovascular findings and effects of enzyme replacement therapy in patients with mucopolysaccharidosis type VI
, Mehmet Gündüz21
University of Health Sciences, Ankara Child Health and Diseases Hematology Oncology Training and Research Hospital,Department of Pediatric Cardiology2
University of Health Sciences, Ankara Child Health and Diseases Hematology Oncology Training and Research Hospital, Clinic of Pediatric Nutrition and Metabolism
AIM Mucopolysaccharidoses (MPS) are an important group of lysosamal storage diseases. Commonly reported cardiac involvements are mitral leaflet thickening and accompanying prolapsus, regurgitation and rarely stenosis. In this study, it was aimed to evaluate cardiac in involvements in patients with MPS Type VI.Keywords:
METHOD We studied a total of 13 children with MPS type VI who were admitted to our department between 2016 and 2018. Cardiac status was evaluated prospectively with clinical findings, electrocardiography and echocardiography. Standard 2-dimensional Doppler echocardiograms were performed.
RESULTS The ages of the patients (8 boys, 5 girls) ranged between 2-14 years (median 9). No arrhythmia was found in any patient. Thickening of the mitral valve with or without regurgitaion and prolapsus was the most common lesion seen in all patients. Additional involvement of the aortic valve was detected in 12 (92.3%) and additional involvement of tricuspid valve in 4 (30.8%) patients. Isole septal hypertrophy was found in two patient and congestive heart failure in another.
CONCLUSION Cardiac involvement is frequent in MPS. Mitral valve deformation is the most frequent finding. The clinical examination of individuals with MPS is often difficult due to physical and intellectual patient limitations. The absence of precordial murmurs does not exclude the presence of cardiac disease. Therefore, echocardiographic examination should be performed periodically even if the patient has no clinical signs of cardiac disease and the cardiac involvement of these patients should be kept under control with medical treatment.
Mucopolysaccharidoses, children, echocardiography, enzyme replacement theraphy.
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Corresponding Author: Emine Azak, Türkiye