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Getting to the Heart of Genetic Cardiovascular Diseases

Helping Patients with Genetic Heart Diseases Lead More Active Lives

Dr. Sharlene M. Day, MD

Sharlene M. Day, MD, a Presidential Associate Professor of Cardiovascular Medicine and director of Translational Research for the Penn Cardiovascular Institute, focuses her research on trying to unlock and treat the mysteries of genetic heart disease.

As part of her research at the Day Lab, Day integrates translational and clinical science to understand the full spectrum of genetic heart disease evolution and progression, from gene mutations in heart muscle cells to ways of predicting negative outcomes in patients. Clinically, she sees patients with hypertrophic cardiomyopathy, a condition where the heart muscle becomes thick making it harder for blood to leave the heart, and other genetic heart conditions at the Penn Center for Inherited Cardiac Disease, such as inherited arrhythmias, high blood cholesterol, Marfan syndrome and familial amyloidosis. Her research program primarily focuses on these same conditions. 

A physician scientist, Day completed her residency, followed by a cardiology fellowship, and a postdoctoral research fellowship at the University of Michigan before joining the faculty there, and spent 24 years there before coming to Penn. Day was recruited to Penn Medicine to lead initiatives in translational research within the Cardiovascular Institute and to grow the clinical and academic mission in the Penn Center for Inherited Cardiovascular Diseases.

In the Q&A below, Day discussed her research, and what inspired it all many years ago.

What inspired you to do the research you’re doing?


Very early on in my training, I became fascinated with the interplay between genetics and cardiac physiology that manifest in very unique observable cardiac traits and complicated disease trajectories including both heart failure and arrhythmias, also known as irregular heartbeats. Since these are diseases that run in families, I have gotten to know patients and their parents, kids, cousins, and other family members on a very personal level and followed them for many years. 

One of the things that inspired my research early on was the lack of information about exercise for patients with genetic heart conditions and the concern that vigorous physical activity could provoke a sudden and potentially fatal arrhythmia. That is what motivated us to conduct a randomized trial of exercise training in patients with hypertrophic cardiomyopathy. We found that those patients in the exercise training arm of the study significantly improved their exercise performance on a stress test compared to those patients who continued their usual physical activity.  Also there was no increase in heart arrhythmias related to exercise. We found these results to be very reassuring, resulting in a change of clinical practice toward a less restrictive lifestyle. Prior to this work, best practices guided patients away from activities like jogging, going to the gym, or going on hikes or bike rides with their friends and family. Now we know that these activities do not carry excess risk and patients should feel comfortable performing moderate intensity exercise on a regular basis. 

I’m also very intrigued as to how the genetic changes lead to the various features of cardiomyopathies. This is what we study in the laboratory, and we try to come up with new ways to counteract the effects of these genetic variations.

What research are you currently undertaking?

I’m still actively studying recreational exercise and participation in vigorous and/or competitive sports in patients with genetic cardiovascular disease. I am also involved in clinical trials examining existing and new drugs to treat hypertrophic cardiomyopathy. In the laboratory, we have built different experimental models and studied heart tissue from patients who underwent surgery to understand the more fundamental biology behind these heart conditions, and to try to devise ways to counteract the primary effects of genetic variants.

What are the biggest challenges you face as a scientist and where do you see the greatest opportunities?

The balance between clinical practice, research, peer review, and other academic activities is an ongoing challenge, mostly because there are only so many hours in a day. The other substantial challenge is securing research funding in an ever more competitive environment with resources that are not keeping pace with the costs and advancement of science. But the opportunities for conducting translational research and first in human clinical trials of new drug therapies are really exciting, and collaborations between academic and industry partners are key to their success.


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