BIDMC investigator receives $50,000 CCF grant for research on pediatric cardiomyopathy

Maria Kontaridis, PhD, an investigator in the Division of Cardiology at Beth Israel Deaconess Medical Center (BIDMC), has received a $50,000 grant from the Children's Cardiomyopathy Foundation (CCF) for her research on pediatric cardiomyopathy.

A chronic and potentially life-threatening inherited heart disease, hypertrophic cardiomyopathy (HCM) is the leading cause of sudden death in young people.

Kontaridis's research focuses on genetic mutations related to HCM, specifically genetic mutations in the PTPN11 gene, which has been linked to nearly all cases of a rare disease known as LEOPARD Syndrome.

"More than 90 percent of LEOPARD syndrome cases exhibit hypertrophic cardiomyopathy," explains Kontaridis. "This grant will enable my laboratory to study how the mutations that cause LEOPARD syndrome affect the heart during development, and how these mutations may lead to the development of pediatric cardiomyopathy in children. Ultimately, we hope that the results of our research will serve as a stepping stone in identifying potential therapies for HCM, and we are very grateful for the CCF's support of our work."