We review cardiomyopathies and their classification due to inborn errors of metabolism. An overview of their clinical presentations, diagnosis, treatment, and long-term outcome is provided. Due to the expansion of newborn screening programs and the widespread availability of genetic testing, many patients are now diagnosed earlier in life allowing for timely initiation of symptomatic or even curative treatment and providing opportunities for long-term survival. Hence, it is important that clinicians are familiar with the evaluation, diagnostic approach, and management of these hitherto often lethal pediatric cases. In addition, clinicians need a basic understanding of genetic concepts to provide for appropriate first tier counseling of patients and their families.
- Inborn errors of metabolism: newborn screening
- Sudden infant death syndrome (SIDS)