Cardiac Manifestations in Children with Inborn Errors of Metabolism

Area of Science:

• Pediatric Cardiology
• Metabolic Disorders
• Genetics

Background:

• Cardiac involvement is a recognized, yet understudied, feature of inborn errors of metabolism (IEMs).
• Understanding the spectrum of cardiac manifestations in pediatric IEMs is crucial for timely diagnosis and management.

Purpose of the Study:

• To systematically review cardiac manifestations of inborn errors of metabolism in childhood.
• To identify patterns of cardiac involvement across different metabolic disorder categories.

Main Methods:

• A comprehensive PubMed database search was conducted by two independent reviewers.
• Studies published within the last 20 years were included, irrespective of study design.
• Case series and reports were identified to gather data on cardiac findings in pediatric IEMs.

Main Results:

• Cardiomyopathy is the most prevalent cardiac disorder across various metabolic defects.
• Heart rhythm abnormalities are common in mitochondrial disorders and acidemias.
• Valvular dysfunction is a key feature of storage disorders, often presenting later.

Conclusions:

• Cardiac involvement in mitochondrial disorders, congenital disorders of glycosylation, and acidemias often appears early.
• In storage disorders, cardiac issues typically manifest later, except in Pompe disease.
• Systematic cardiac screening is essential for children diagnosed with inborn errors of metabolism due to diverse cardiac presentations.