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Cardiovascular Abnormalities in Egyptian Children with Mucopolysaccharidoses

Laila Selim1, Nehal Abdelhamid2, Emad Salama3

  • 1Professor, Department of Paediatrics, Faculty of Medicine, Cairo University , Cairo, Egypt .

Journal of Clinical and Diagnostic Research : JCDR
|January 5, 2017
PubMed
Abstract

Insights

Cardiac valve disease is common in children with Mucopolysaccharidoses (MPS), even without heart murmurs. Early cardiac monitoring and treatment are crucial as valve dysfunction may be irreversible.

Area of Science:

  • Genetics and rare diseases
  • Pediatric cardiology
  • Metabolic disorders

Background:

  • Mucopolysaccharidoses (MPS) are rare inherited metabolic disorders characterized by progressive glycosaminoglycan (GAG) accumulation.
  • GAG deposition affects cardiac myocardium and valves, potentially leading to dysfunction.
  • Current Enzyme Replacement Therapy (ERT) may not reverse pre-existing cardiac valve disease.

Purpose of the Study:

  • To evaluate the cardiac involvement in Egyptian children diagnosed with various types of MPS.
  • To assess the prevalence and characteristics of cardiac lesions in pediatric MPS patients.

Main Methods:

  • Echocardiograms (ECG) were performed on 34 MPS patients.
  • Diagnosis was confirmed via urinary GAG analysis and enzyme assays.
  • Cardiac evaluation included valve morphology (thickness, regurgitation, stenosis) and ventricular dimensions.

Main Results:

  • The study included 34 children (age 0.9-16 years) with MPS I, II, III, IV, and VI.
  • Cardiac lesions were detected in 44% of patients via ECG, with mitral regurgitation (47%) and pulmonary hypertension (40%) being most common.
  • Heart murmurs were present in only 26% of participants, highlighting limitations in clinical auscultation.

Conclusions:

  • Absence of cardiac murmurs does not rule out cardiac involvement in MPS.
  • Cardiac valve dysfunction in MPS may be irreversible, emphasizing the need for early intervention.
  • Routine echocardiographic monitoring and timely ERT are recommended for children with MPS.
Keywords:
EchocardiographyEnzyme replacement theoryPaediatrics

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