Metabolic cardiomyopathy in Egyptian children : A retrospective hospital based study / Nihal Magdi Almenabawy ; Supervised Zeinab Salah Seliem , Reem Ibrahim Esmail , Mohamed Abdelmoneim Mohamed

Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Pediatrics

Background: Inborn errors of metabolism (IEM) account for 5% of pediatric cardiomyopathy and about 15% of those with known causes. Many of the inborn errors of metabolism (IEM) are currently treatable and in many cases the cardiomyopathy can be reversed. Objectives: The aim of the work is to study the prevalence of different types of metabolic cardiomyopathies among patients gathered from the cardiomyopathy and metabolic clinics and to document their clinical, biochemical and radiological data. Results: In the current study, 57/229 patients with cardiomyopathy representing 24.4% were diagnosed as IEM by metabolic work up. Their mean age at diagnosis was 2.6 years. Within the patients with metabolic cardiomyopathy, (75.4%) patients had hypertrophic cardiomyopathy, (22.8%) patients with dilated cardiomyopathy while only (1.8%) was diagnosed with mixed cardiomyopathy and none of them had restrictive cardiomyopathy. The most common cause of IEM causing metabolic cardiomyopathies were in order of frequency as follows: Glycogen storage diseases (38.6%), followed by mucopolysaccharidoses (26.4%). The least common were both organic acidopathies, lipid storage diseases and aminoacidopathies each (3.5%). Conclusion: Metabolic cardiomyopathies are a potentially treatable group of disorders, so every effort should be done in order to reach the proper diagnosis for an early therapeutic intervention which will have an enormous impact on the quality of patient{u2019}s lives.

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