Cardiac involvement as a gateway to the diagnosis of inherited metabolic disorders: A 16-year pediatric experience from a tertiary metabolic center

Objective: Cardiac involvement is a common but often underrecognized feature of inherited metabolic disorders (IMDs), particularly in pediatric populations. Early detection is crucial, since many IMDs have disease-specific treatments that can improve outcomes. This study aimed to evaluate the frequency and spectrum of inherited metabolic disorders among pediatric patients presenting with cardiomyopathy, and to emphasize the importance of early recognition for targeted management. Material and Methods: We retrospectively analyzed the records of 71 pediatric patients referred to a tertiary metabolic center between 2004 and 2020 due to cardiomyopathy or other cardiac findings. Demographic, clinical, and diagnostic data were reviewed, with a focus on final diagnoses and metabolic etiology. Results: The median age at presentation was 17 months (range, 15 days-17 years). Dilated cardiomyopathy was the most common phenotype (57.7%), followed by hypertrophic (21.1%) and non-compaction cardiomyopathy (15.4%). An inherited metabolic disorder was diagnosed in 12 patients (16.9%), most commonly Pompe disease, carnitine transporter deficiency, and very long-chain acyl-CoA dehydrogenase deficiency. Parental consanguinity was present in 50% of diagnosed cases. Despite therapy, four patients died due to cardiac failure. Conclusion: Inherited metabolic disorders account for a substantial proportion of pediatric cardiomyopathy cases. Early metabolic screening should be considered in all children with cardiomyopathy, especially when suggestive features are present. Prompt diagnosis may allow for timely intervention, genetic counselling, and improved outcomes.