Determining Potential Mechanisms of Worse Outcomes in Black HCM Patients
Sharon Cresci, MD, Associate Professor of Medicine and Genetics in the Cardiovascular Division and Associate Director of the WashU Barnes-Jewish Hospital Hypertrophic Cardiomyopathy Center, recently received a five-year R01 grant from the National Institutes of Health/National Heart, Lung and Blood Institute. The grant is entitled “Determining Potential Mechanisms of Worse Outcomes in Black HCM Patients”.
She along with her co-investigators, Nate Huebsch, PhD, from the WashU McKelvey School of Engineering, Mike Province, PhD, Professor and Director from WashU Department of Genetics and Anjali Owens, MD, Associate Professor of Medicine at University of Pennsylvania, will work together.
I am fortunate to have amazing co-investigators on this project — Dr. Nate Huebsch who has developed the unique ‘micro-heart’ technology platform that we will use in this project, Dr. Mike Province who is a world-renowned expert in complex trait human genomics, and Dr. Anjali Owens, who is Medical Director of the Center for Inherited Cardiovascular Disease at the University of Pennsylvania.
Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiac disease. Individuals with HCM have adverse clinical outcomes, including heart failure, arrhythmias, and sudden cardiac death (SCD). Adults with HCM have 3-4-fold higher mortality compared to age-matched peers. It is estimated that, in the U.S., 6 out of 7 (86%) individuals with HCM have not been identified and are unaware of their diagnosis. There are recognized racial disparities in the diagnosis of HCM. While Black individuals have been observed to have more clinical and ECG signs that should promote consideration of the diagnosis of HCM, HCM is underdiagnosed in Black patients.
Furthermore, even once diagnosed, there are well-recognized disparities between Black and White patients with HCM; Black patients have lower rates of referral to HCM Centers of Excellence, referral for genetic testing, referral for SCD risk stratification, and referral for interventions such as septal reduction therapy and implantable cardioverter-defibrillator (ICD) placement. The lower rates of referral are in direct opposition to the data that shows that, compared to Whites, Black individuals with HCM have approximately 2-fold the risk of SCD and development of class III or IV (moderate or severe) heart failure (HF).
“I am so excited to be funded for this work. Racial disparities in hypertrophic cardiomyopathy have been recognized, including that Black individuals with hypertrophic cardiomyopathy have more severe disease and worse outcomes, but potential mechanisms underlying these disparities are not clear and have not been well studied.
Sharon Cresci, MD
This project combines comprehensive patient clinical and biomarker data with powerful in vitro tools of induced pluripotent stem cell (iPSC) technology and tissue engineering to gain important insights and understanding of potential triggers and molecular pathways involved in hypertrophic cardiomyopathy in Black individuals. The ultimate goal of this grant is to improve patient care and patient quality of life in individuals with hypertrophic cardiomyopathy.”