Children with cardiomyopathy represent the most dismal outcome of any group of diseases followed by pediatric cardiologists, with up to 40 percent of infants and children with symptomatic cardiomyopathy failing medical or surgical management in the first year following diagnosis. For 57 percent of children with cardiomyopathy, no etiology is known. Although pediatric cardiomyopathy is common, there is considerable variation in its causes. Therefore, for any specific etiology, no center of pediatric cardiology sees a sufficient number of patients to make major advances in understanding this group of diseases. The registry was developed to collect and organize all relevant data on the condition. Data accrued by and reported by the registry should lead to increased awareness and knowledge of pediatric cardiomyopathy and its causes, as well as the development of new diagnostic and therapeutic approaches.
The registry consists of a prospective, population-based cohort of patients in New England and the Central Southwestern United States and a retrospective cohort of patients diagnosed between 1991 and 1996. Annual follow-up data are collected on all patients.
Specific hypotheses are that l) during the period of the registry, the percentage of cases that are diagnosed as idiopathic will decrease (i.e., etiologies will be found) and 2) at the time of diagnosis of cardiomyopathy, factors such as gender, ethnicity, age, type of cardiomyopathy, and presence or absence of a syndrome can help predict outcomes. Definition of entry and exclusion criteria, clinical quality assurance, and accrual and retention of participating clinical centers are largely under the direction of the University of Rochester in Rochester, New York and Baylor College of Medicine. Virtually all pediatric cardiology centers in the United States, Puerto Rico, and Canada have expressed their willingness to send patient information to such a registry.
The study was continued through May, 2010 to to investigate the natural history of cardiomyopathy and transplantation, establish a longitudinal cohort for investigating the functional status of children with cardiomyopathy, and conduct viral and genetic testing to assess associations of genetic and viral markers of cardiomyopathy with clinical and functional outcomes. There are three specific aims. The first expands on the natural history of cardiomyopathy and transplantation by integrating the Pediatric Cardiomyopathy Registry (PCMR) and the Pediatric Heart Transplant Study databases in order to examine whether and how cardiac transplantation modifies the clinical course of cardiomyopathy in children. The second specific aim focuses on the functional status of pediatric cardiomyopathy patients. The study will establish the longitudinal course of functional status in children with cardiomyopathy, and analyze the relationship to clinical events and outcomes. This will be accomplished by assessment of the functional status of pediatric cardiomyopathy patients, including the subset of children undergoing heart transplantation, by continuation of the current PCMR Functional Status Substudy and extension of the study to children in the post-transplant-period period. The third specific aim relates to viral and genetic testing and will investigate how genetic and viral markers of cardiomyopathy are associated with clinical and functional outcomes. Cardiac tissue and blood samples will be collected from 300 children with cardiomyopathy for viral genome and genetic screening 9G4.5 gene) using the Pediatric Cardiomyopathy Repository, and the results will be correlated to clinical outcome.