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Two recently published studies on pediatric cardiomyopathy by Steven E. Lipshultz, M.D., professor and chairman of the Department of Pediatrics, could change care for children with heart disease. The study in the journal Pediatrics recommended the diagnostic evaluation for the disease include a thorough family history, echocardiograms, and routine blood and urine testing.

“If a cause is still not found, endomyocardial biopsy should be considered, and in some cases a skeletal muscle biopsy should be done,” says Lipshultz. “We believe one of the main reasons for the poor outcomes is that in the majority of affected children we do not know the cause, so everyone is being treated the same way instead of tailoring a treatment to fit the cause.”

The study published in The Journal of the American Medical Association detailed what happens to children who suffer from dilated cardiomyopathy, which is the most common form of the disease and the leading reason for heart transplants in children and adults. “This study should help doctors caring for these patients decide who would benefit most from cardiac transplantation,” says Lipshultz.

Both studies were based on the Pediatric Cardiomyopathy Registry, funded by the National Heart, Lung and Blood Institute. Lipshultz serves as the principal investigator of the registry, which was set up to study the causes and natural history of the disease.