Cardiomyopathies in children: Mitochondrial and storage disease

Inborn errors of metabolism are individually rare but account for up to 10% of all childhood cardiomyopathies. This group of diseases is extremely heterogeneous in terms of age of onset, presentation and natural history. This review highlights ‘red flags’ in the presentation, examination or investigations of patients with metabolic storage or mitochondrial disease that can identify particular aetiologies and guide further investigations and management