Reed Pyeritz, MD, PhD (right), with Bill SmilowPHILADELPHIA - Reed Pyeritz, MD, PhD, the William Smilow Professor in the Division of Translational Medicine and Human Genetics at the Perelman School of Medicine at the University of Pennsylvania, has been given the 2018 Hero with Heart Award by the Marfan Foundation.
The award pays tribute to Pyeritz’s four decades of dedication to improving heart health in the 200,000 people in the U.S. living with Marfan syndrome and related disorders. The tribute was presented this month at the Foundation’s 2018 HeartWorks Gala in New York City.
Pyeritz is widely regarded as the preeminent scholar and clinician for this serious genetic condition. He is a major contributor to improving life expectancy in those with Marfan syndrome from 32 years, when he first began researching the condition in 1978, to a nearly normal life span for patients born today.
Marfan syndrome affects the connective tissue in the body, which provides strength and flexibility to key internal structures. It can result in stretching of the aorta, the large blood vessel that distributes blood from the heart to the rest of the body. This can result in an aneurysm—a potentially fatal bulge in the blood vessel wall.
Patients with Marfan syndrome are also susceptible to leaks in the valve that connects two of the four chambers of the heart and the valve that regulates blood flow from the heart into the aorta. This can cause an irregular heartbeat, shortness of breath, and significant fatigue. Other symptoms include curvature of the spine, dislocation of the ocular lens, cataracts in mid-adulthood, glaucoma, a sunken or a protruding chest, collapsed lung, and head, abdominal, and limb pain.
Pyeritz is one of the founders of the Marfan Foundation and has served on its Professional Advisory Board since its inception. In announcing the award, Josephine Grima, PhD, chief science officer for the Foundation, said: “Dr. Pyeritz has been instrumental in many interdisciplinary studies on the clinical, scientific, and ethical considerations of Marfan syndrome and related disorders for his entire 40-plus year career. He has been a champion for individuals and families with Marfan and related disorders and has been a driving force in the Foundation since he helped create it. His contributions to the care of patients, advancement of science, and public awareness are immeasurable.”
Current Marfan syndrome research efforts by Pyeritz include a multicenter trial of angiotensin receptor blockers—drugs that help relax the blood vessels, lowering blood pressure and making it easier for the heart to pump blood. Angiotensin is a protein that can narrow blood vessels, raising blood pressure and forcing the heart to work harder. Angiotensin receptor blockers impede the action of angiotensin, allowing blood vessels to widen. Without medication such as angiotensin receptor blockers and certain beta-blockers, nearly all patients with Marfan syndrome would suffer progressive enlargement of the aorta, leading to a potentially fatal tear or rupture.
Pyeritz earned his MD and PhD in biological chemistry from Harvard. He completed his residency in medicine at Johns Hopkins University, where he became a member of the medical school faculty. He joined the Penn Medicine faculty in 2001.
Penn Medicine is one of the world’s leading academic medical centers, dedicated to the related missions of medical education, biomedical research, excellence in patient care, and community service. The organization consists of the University of Pennsylvania Health System and Penn’s Raymond and Ruth Perelman School of Medicine, founded in 1765 as the nation’s first medical school.
The Perelman School of Medicine is consistently among the nation's top recipients of funding from the National Institutes of Health, with $550 million awarded in the 2022 fiscal year. Home to a proud history of “firsts” in medicine, Penn Medicine teams have pioneered discoveries and innovations that have shaped modern medicine, including recent breakthroughs such as CAR T cell therapy for cancer and the mRNA technology used in COVID-19 vaccines.
The University of Pennsylvania Health System’s patient care facilities stretch from the Susquehanna River in Pennsylvania to the New Jersey shore. These include the Hospital of the University of Pennsylvania, Penn Presbyterian Medical Center, Chester County Hospital, Lancaster General Health, Penn Medicine Princeton Health, and Pennsylvania Hospital—the nation’s first hospital, founded in 1751. Additional facilities and enterprises include Good Shepherd Penn Partners, Penn Medicine at Home, Lancaster Behavioral Health Hospital, and Princeton House Behavioral Health, among others.
Penn Medicine is an $11.1 billion enterprise powered by more than 49,000 talented faculty and staff.