Aim: The aim of the study was to investigate the frequency and type of cardiac manifestations in a defined group of patients with inborn errors of metabolism. This paper also explores the key role of cardiac manifestations in the diagnosis of inborn errors of metabolism in daily practice.
Methods: Out of the 287 patients with the potential for inborn errors of metabolism who had been referred to the University Hospital of Heraklion (202 children and adolescents and 85 adults), 41 were found to have a variety of cardiac manifestations, including cardiomyopathy, cardiomegaly, atrioventricular conduction disorders and coronary artery disease.
Results: In 15 out of the 41 patients a diagnosis of inborn errors of metabolism was established, while the total number of patients with inborn errors of metabolism was 60 out of the 287. In 6 out of the 15 patients the major symptoms were from the cardiovascular system and 7 of them were adults with symptoms initiating in childhood.
Conclusion: The cardiac findings consist of a neglected area in the diagnosis of the inborn errors of metabolism. Neurologists, pediatricians and internists should cooperate with cardiologists in managing people with unexplained cardiac symptoms and signs and be aware that several inborn errors of metabolism are associated with cardiac abnormalities and mild neurologic findings.