Amy Kontorovich, MD, PhD

Elucidating the Genetics of Myocarditis-Related Cardiomyopathy
Icahn School of Medicine at Mount Sinai, New York, NY
Amy Kontorovich, MD, PhD – $50,000

Acute myocarditis (AM) is an inflammatory disorder of the heart muscle (myocardium) and is the most common form of cardiomyopathy in children. Most cases of AM are due to infection by common environmental viruses that are otherwise innocuous to the majority of the population. Why some children but not others have serious or fatal cardiac responses to these infections remains unknown. AM has long been considered an arbitrary disease, but current research suggests that genetics and not fate determines one’s vulnerability. The hyptothesis of this study is that human genetic changes can give way to heightened risk of AM, and specific mutations can lead to worse clinical outcomes in this disease. This approach challenges conventional belief that AM is strictly an infectious disease and implies that it is a genetic disease. This project utilizes next generation genetic sequencing to uncover genetic patterns within a population of patients with AM. Identifying causative mutations may allow providers to better evaluate patients, predict the course of AM, offer prophylactic measures to gene-carrying relatives, and intervene before the onset of disease.