While there has been some progress in the field of adult cardiomyopathy, there have been few national studies on cardiomyopathy in the pediatric population given its rarity and variability. It remains unclear how certain genes, genetic modifiers, double mutations or disease associated variants play a role in the development of pediatric cardiomyopathy. Causes are established in very few children with cardiomyopathy, yet genetic causes are likely to be present.
While research has shown that outcome in pediatric cardiomyopathy is cause specific, there are currently no therapies targeted to the underlying disease. New therapies will depend on identifying novel disease causing genetic mutations and understanding which variables control disease manifestation and progression in children. The Pediatric Cardiomyopathy Registry study network is currently conducting two national studies, “Genotype-Phenotype Associations in Pediatric Cardiomyopathy” and “Cardiac Biomarkers in Pediatric Cardiomyopathy.” These studies will look at the relationship between genetic abnormalities and clinical signs and determine which l risk factors can predict disease severity in an affected child.
The studies can help physicians develop better treatment guidelines and encourage researchers to develop a pediatric DNA testing panel that can more accurately screen children at risk of cardiomyopathy. This can lead to earlier intervention and preventative therapies to reduce disease occurrence and mortality rate.
The number of medical publications on pediatric cardiomyopathy has increased three-fold since CCF’s establishment. Medical abstracts and publications on pediatric cardiomyopathy including specific forms of cardiomyopathy (dilated, hypertrophic, restrictive, left ventricular non-compaction, arrhythmogenic right ventricular) can be accessed through PubMed. PubMed is a service of the National Library of Medicine that includes more than 24 million citations for biomedical articles from MEDLINE, life science journals and online books.
The Foundation also maintains a listing of publications, abstracts and meeting presentations on pediatric cardiomyopathy studies that CCF has funded.