Cardiac manifestations in children with inborn errors of metabolism

Need and purpose

Cardiac involvement is a part of many inborn errors of metabolism, but has not been systematically studied. This review focuses on studies describing cardiac manifestations of inborn errors of metabolism in childhood.

Methods

Two independent reviewers searched the topic using PubMed database. Studies published within 20 years were considered, without applying any restrictions related to study design.Despite the small number of existing systematic studies on the topic, several case series/reports were identified.

Conclusions

Cardiomyopathy is the most frequent heart disorder in most metabolic defects. Heart rhythm disorders are mainly encountered in mitochondrial disorders and acidemias, whereas valvular dysfunction is a prominent finding in storage disorders. Cardiac involvement in mitochondrial disorders, congenital disorders of glycosylation and acidemias usually constitute an early symptom. On the contrary, in storage disorders, heart problems are revealed in later stages during routine multisystemic evaluation, with the exception of Pompe disease. As a variety of cardiac manifestations can be found in inborn errors of metabolism, these children should be systematically screened for heart problems during their follow-up.