Northwestern University Feinberg School of Medicine

Center for Genetic Medicine

Hypertrophic Cardiomyopathy: Getting to the Heart of the Matter


Richard A. Scott, MD Lecture

Tuesday, November 28, 2017 | 3:30 pm

Northwestern University
Hughes Auditorium
Lurie Medical Research Center
303 E. Superior Street, Chicago, IL

The Center for Genetic Medicine of Northwestern University welcomes you to attend the Richard A. Scott, MD Lecture on Tuesday, November 28, 2017, featuring Christine Seidman, MD, Thomas W. Smith Professor of Medicine and Genetics, Harvard Medical School; Director, Cardiovascular Genetics Center, Brigham and Women’s Hospital; and Investigator, Howard Hughes Medical Institute.

Hypertrophic cardiomyopathy (HCM) is a genetic disorder that causes left ventricular hypertrophy, arrhythmias, progressive symptoms, and adverse clinical outcomes. HCM is caused by dominant pathogenetic variants in genes that encode components of the sarcomere, the unit of contraction in all muscle cells. HCM hearts exhibit hyperdynamic contraction, impaired diastolic relaxation, and increased energy demands. Impaired relaxation is a major driver of HCM symptoms and atrial arrhythmias, while increased energy demands contribute to premature cardiomyocyte death and progression to heart failure. To understand how sarcomere gene mutations alter cardiac morphology, impair cardiac physiology, and cause symptoms we have engineered human HCM pathogenic variants into mice and human iPSC-derived cardiomyocytes. Using these models we have examined newly described biochemical and biophysical properties that underpin sarcomere performance throughout the cardiac cycle. Our findings suggest new interpretations of the mechanisms by which HCM mutations perturb contraction and relaxation, and define the potential for small molecules to improve HCM pathophysiology. 

Christine Seidman, MD, is the Thomas W. Smith Professor of Medicine and Genetics at Harvard Medical School and Brigham and Women’s Hospital and an Investigator of the Howard Hughes Medical Institute. She was an undergraduate at Harvard College and received a M.D. from George Washington University School of Medicine. After clinical training in Internal Medicine at John Hopkins Hospital, she received subspecialty training in cardiology at the Massachusetts General Hospital. Dr. Seidman is a faculty member of Brigham and Women’s Hospital, where she served as Director of the Brigham Biomedical Research Institute. She is also the founding Director of the BWH Cardiovascular Genetics Center.

Dr. Seidman’s laboratory uses genomic strategies to define causes of human cardiovascular disease, including congenital heart malformations and cardiomyopathies. By exploiting model systems to identify pathways impacted by mutations, these studies have enabled gene-based diagnostics and novel strategies to limit the deleterious consequences of human mutations. Dr. Seidman also leads a multi-institution consortium that assess rare and common variants involved in cardiovascular phenotypes and that explore the clinical utility of genomic variation in early diagnosis and prevention of cardiovascular disease.

The recipient of many honors, Dr. Seidman is a Distinguished Scientist of the American Heart Association, Fellow of the American Academy of Arts and Sciences, and member of the Institutes of Medicine and the National Academy of Sciences.



The Scott Lecture Series is co-sponsored by Northwestern University's Driskill Graduate Program (DGP) in Life Sciences, part of the Lectures in Life Sciences series.

The Scott Lecture Series was created as an educational platform to appeal to the medical community of Northwestern University. It is funded under the generous bequest of alum Richard A. Scott, MD. After Dr. Scott passed away, his wife and family established the lecture series in honor of Dr. Scott’s lifelong interest in research and learning.