Abstract Background Inherited metabolic diseases (IMDs) are genetic disorders characterized by metabolic defects leading to toxic accumulation or deficiencies in essential molecules. Cardiovascular complications, including cardiomyopathy (CM), valve dysfunction (VD), and arrhythmias, significantly contribute to morbidity and mortality in IMD patients, necessitating comprehensive cardiac evaluation. This study investigates the relationship between IMDs and cardiovascular involvement in pediatric patients to inform clinical management. Methods A retrospective analysis was conducted on 1215 pediatric IMD patients (2012–2021). Cardiovascular involvement was assessed through clinical records, echocardiography, and laboratory findings. Patients with congenital heart defects were excluded. Results Among 85 IMD patients with cardiovascular involvement, the median age was 85 months, with a 20‐month follow‐up. CM was present in 57.6%, most commonly hypertrophic CM. VD was identified in 40%, and vasculopathy in 4.7%. Rhythm abnormalities occurred in 8.2%, with two cases of clinically significant arrhythmias. Energy metabolism disorders were most associated with CM (71.8%), while VD was predominant in lipoprotein metabolism disorders (66.7%). Cardiac involvement was most frequently detected in infancy (45.9%). Disease progression occurred in 60% of intoxication‐type and 41% of energy metabolism disorders. The mortality rate was 21.2%, higher in CM patients (22.4%) than in those with VD (17.6%). Conclusion Cardiovascular complications impose a substantial burden on pediatric IMD patients. Early detection and a multidisciplinary approach are crucial for improving outcomes. Comprehensive cardiac assessment and tailored interventions can mitigate risks, highlighting the need for further multicenter studies to refine management strategies.
Bayramoğlu et al. (Thu,) studied this question.
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