Cardiac involvement in children with inborn errors of metabolism: a single-centre cohort study

Abstract Objectives: To determine the prevalence and types of cardiac involvement in children with inborn errors of metabolism and to assess associated clinical characteristics in a single-centre cohort. Methods: Between 1 May 2021 and 1 May 2023, 306 patients aged 0–18 years with inborn errors of metabolism who underwent cardiac evaluation at the Department of Paediatric Metabolism and Nutrition, Ankara Bilkent City Hospital, were retrospectively reviewed. Cardiac assessment included electrocardiography and transthoracic echocardiography. Associations between diagnostic groups, age, and cardiac involvement were analysed. Results: Cardiac involvement was identified in 105 patients (34.3%). Lysosomal storage diseases were the most frequent diagnosis (27.1%), with cardiac involvement in 61.4% and valvular disease in 56.6% of these patients. Valve pathologies were present in 25.2% of all patients, of which 6.5% were haemodynamically significant regurgitations. Cardiomyopathy was observed in 1.7%, myocardial changes in 2.6%, and aortic anomalies in 1.0%. Valvular involvement was more common in patients >6 years of age (34.3%) than in younger age groups ( p < 0.001). No significant difference was found between age groups regarding overall cardiac involvement. Conclusions: Cardiac involvement is common in children with inborn errors of metabolism and may occur at any age. Lysosomal storage diseases show the highest risk, particularly for valvular disease in patients older than 6 years, likely due to progressive substrate accumulation. Routine cardiological evaluation and multidisciplinary follow-up are essential to optimise prognosis in this population.