Department: Cardiovascular Research Institute

Physical work location: 1470 Madison Ave, Hess Bldg, 7th Fl, New York, NY 10029

Details of Research Project: 

The predominant myosin heavy chain expressed in human heart, beta-MyHC, is encoded by the gene. variants are well described in hypertrophic cardiomyopathy and less frequently seen in dilated cardiomyopathy. A recent series of publications link variants in the 5’ end of the gene as implicated in left ventricular noncompaction cardiomyopathy, often in the setting of a dilated ventricle with impaired function. Importantly, premature truncations as well as missense variation within the gene has been linked to LVNC in both population studies and in individuals and families. We hypothesize that specific missense variants identified in LVNC are associated with reduced contractility, rather than hyperdynamic variants seen in hypertrophic cardiomyopathy. Additionally, m...