Scholar Bazrafshan, a physician trained in Iran, is completing research training at UC. She holds a master’s degree in aerospace medicine from Wright State University in Dayton, Ohio. In Sadayappan’s lab, Bazrafshan is looking at the importance of the stress echo in discovering hidden cardiac traits which play a role in an enlarged heart.
The Sadayappan lab has focused on delineating the role of a genetic variant of myosin binding protein-C (MyBP-C) plays in the regulation, structure and function of cardiac muscles. That genetic variant is predominant in people of South Asian descent and may predispose these individuals to hypertrophic cardiomyopathy.
Hypertrophic cardiomyopathy is a disease in which the heart muscles become abnormally thick or “enlarged.” The disease is estimated to affect one in 500 people.
Bazrafshan along with other researchers invited 26 individuals who were of South Asian descent to perform a stress echocardiography. The group includes carriers and non-carriers for the MYBPC3 gene mutation (25bp deletion).
“The results were striking,” says Bazrafshan. “Though the subjects were asymptomatic and seem to be normal at baseline without any stress, MYBPC3 gene carriers show cardiac dysfunction upon exercise which is an early sign of disease development. Our work supports the importance of genetic screening especially in primary care settings and as part of a precision medicine approach.”
Sadayappan, also a co-author of the abstract presented to the AHA, says the study shows testing would provide valuable information for clinicians who could consider treatment options that might prevent the development of heart disease. “This study had a limited number of subjects and in the future we hope to recruit additional individuals and complete our finding with defined evidence that his MYBPC3 gene mutation is pathogenic.”
Other collaborators on Bazrafshan’s AHA abstract include Singh along with Robert Sibilia; Saavia Girgla, MD; Shiv Kumar Viswanathan, PhD; Megan Puckelwartz, PhD; Elizabeth McNally, MD, PhD; Kiranpal Sangha, PharmD; Mashhood Kakroo, MD; Roman Jandarov, PhD; David Harris, MD; Jack Rubinstein, MD, and Richard Becker, MD.
Feature image shows Brittany Duncan with Sholeh Bazrafshan, MD, and Sakthivel Sadayappan, PhD, in a UC College of Medicine laboratory. Photo by Colleen Kelley/UC Creative + Brand.